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298 Cards in this Set
- Front
- Back
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How often does cerebral edema occur in DKA?
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1-5% of DKA episodes
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In what time frame does cerebral edema occur in DKA?
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6-12 hours after initiation of treatment.
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What presents as headache, altered mental status, emesis, delirium, lethargy, incontinence, seizures, pupillary changes, decreasing heart rate, and increasing BP?
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cerebral edema associated with DKA
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What is the treatment of cerebral edema associated with DKA?
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mannitol and hyperventilation
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What are the risk factors for DKA associated cerebral edema?
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< 5 years of age
new-onset diabetes low initial PCO2 high initial BUN lesser increase in Na2+ with txt |
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What is the strongest osmotic stimulus for the ADH osmoreceptors? and the next?
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Sodium is strongest.
Mannitol is next. |
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How does nausea affect ADH?
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It is the most potent stimulus of ADH known and can increase it to several hundred times normal!
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What are the 6 hormones of the anterior pituitary?
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TSH, GH, ACTH, LH, FSH and prolactin
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What is another name for corticotropin?
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ACTH
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At what times does ACTH peak and bottom out?
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peaks at 3-4 am and
bottoms out at 10-11pm |
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What causes release of Growth Hormone, and what inhibits it's release?
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GHRH (growth hormone releasing hormone) stimulates
Somatostatin inhibits GH release. |
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What increases release of GHRH?
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dopamine
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What controls the release of LH and FSH?
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GnRH (and its pulsatile secretion)
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What increases during sleep and with stress?
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Prolactin - also increased with lactation and stimulation of the nipple.
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What drugs can increase the prolactin?
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Anti-dopaminergic drugs (metoclopramide and phenothiazines) also risperidone
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How does prolactin differ from the other hormones that are produced in the anterior pituitary gland?
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It is under tonic hypothalamic inhibition by dopamine sent down the pituitaty stalk.
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Is prolactin high in hyperthyroid or hypothyroid states.
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Prolactin is high with hypothyroidism
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What Syndrom is the absence of the pituitary gland with hypothalamic hamartoblastoma, postaxial polydactyly, nail dysplasia, bifid epiglottis, imperforate anus, hear, lung and kidney anomalies?
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Hall-Pallister syndrome
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What syndrome can include deficiency of anterior pituitary hormones with the classic findings of colobomas of the iris, glaucoma, kidney, GI or umbilical anomalies?
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Rieger Syndrome
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What Syndrome includes an abnormality of the optic nerve (absence of the optic chiasm, optic nerve hypoplasia or both); agenesis or hypoplasia of the septum pellucidum or corpus callosum or both; and often hypothalamic insufficiency?
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Septo-optic dysplasia or
de Morsier Syndrome |
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What do midfacial anomalies or the finding of a solitary maxillary central incisor indicate a high likelihood of?
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GH deficiency
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What percent of patients with cleft lip or cleft palate have GH deficiency?
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4%
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What is the most common tumor to cause pituitary hormone deficiency?
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craniopharyngioma
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What is growth hormone receptor defect known as?
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Laron syndrome
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True or False?
Ingants with congenital hypopituitaryism (GH deficiency) have normal weight and length at birth? |
True.
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How do infants with congenital hypopituitarism present in the neonatal period?
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neonatal apnea or cyanosis, or the can have sepsis, hypoglycemia and direct hyperbilirubinemia. Males may have micropenis
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What is the characteristic facies of congenital hypopituitarism?
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Round head and short, broad face. The frontal bone is prominant and they have a depressed, saddle-shaped nose. The eyes appear to be bulging.
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Falling off the growth curve after what age is a huge red flag and deserves evaluation?
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After age 3.
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Definitive diagnosis of Growth Hormone deficiency is obtained with what?
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lack of response to stimulation of GH production
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What is the typical bone age with GH deficiency?
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About 75% of chronologic age.
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True or False?
Constitutional growth delay is a variant of normal growth? |
True
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How do you differentiate constitutional growth delay and genetic short stature?
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Bone age -- it is normal in genetic short stature and and delayed with constitutional growth delay.
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If a patient has a normal growth velocity, a delayed bone age, and a family history of delayed puberty, what is the diagnosis?
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Constitutional Growth Delay
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If a patient has normal growth velocity, normal bone age and family history of short stature, what is the diagnosis?
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Genetic short stature.
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If a patient has decreased growth velocity, delayed bone age and a family history of hormone issues (sometimes), what is the diagnosis?
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Hormonal deficiency
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What syndrome causes short stature, frontal bossing, triangular facies, shortened and incurved 5th fingers, and asymmetry with low birth weight?
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Russell-Silver syndrome.
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When is treatment for growth hormone initiated?
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As soon as the diagnosis is made. It is stopped when growth less than 1 inch/year and bone age is greater than 14 in girls and 16 in boys.
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Is there an increased risk of leukemia in patients treated with growth hormone?
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NO
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What hormonal problem needs monitored for in patients receiving growth hormone?
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hypothyroidism (it can occur transiently in the first three months).
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What are the FDA approved uses of growth hormone?
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growth hormone deficiency, chronic renal insufficiency, Turner Syndrome, Prader-Willi syndrome, Noonan syndrome, SGA, Idiopathic short stature, AIDS wasting syndrome and SHOX deficiency
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When is growth hormone contraindicated in patients with Prader-Willi and why?
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If the patient is severely obese or has severe respiratory impairment, because deaths have occured in these patients with GH usage.
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ADH release from the posterior pituitary is controlled primarily by what?
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plasma osmolality
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Where are ADH receptors?
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All throughout the body, but especially the collecting duct of the nephron.
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What occurs in the collecting ducts of the kidney without ADH?
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they exhibit extremely low water permeability.
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What endocrine disorder can occur due to deficiency of arginine vasopressin or the inability of the ADH-sensitive epithelial cells of the kidney collecting duct to repsond normally to the hormone?
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Diabetes Insipidus
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Which is more common in central DI? Primary or secondary?
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Secondary by far - usually from a tumor or head injury or infection.
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What drug is the most widely known to induce nephrogenic DI?
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Lithium
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What disorders are associated with nephrognic DI?
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Polycystic kidney disorder, sickle-cell, chronic pyelonephritis, sarcoidosis, amyloidosis and urinary tract obstructions.
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What are the classic signs of DI?
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polyuria and polydipsia
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What can present in infants with poor feeding, growth failure, irritability, and high fevers?
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DI
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When do you use DDAVP for Diabetes Insipidus?
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In central DI,
It does nothing in nephrogenic DI |
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What presents with hyponatremia, low serum osmolality, inappropriately high urine osmolality, low urine volume and high plasma volume.
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SIADH
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What diseases can induce SIADH?
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pneumonia, tumors, TB, cystic fibrosis, meningitis, encephalitis and head trauma.
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What is the treatment for SIADH?
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FLUID RESTRICTION.
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What are common abnormal causes of tall stature?
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Klinefelter syndrome (XXY)
Marfan syndrome (AD) homocystinuria (AR) |
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If epiphyses are open and there is GH excess, what will occur?
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giantism
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If epiphyses are closed and there is GH excess, what will occur?
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acromegaly
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What hormone causes growth plates to fuse?
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Estrogen
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What is a weird syndrome with rapid growth early in childhood but no evidence of an endocrine disorder? What causes it?
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Sotos Syndrome - caused by a mutation in one of the NSD1 genes located at 5q35 leaving them with one normal and one abnormal NSD1 gene)
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What are the most common anterior pituitary tumors in adolescents?
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Prolactin secreting tumors
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What are the three most common symptoms of in adolescents with prolactin secreting adenomas?
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headaches, amenorrhea and galactorhea.
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What is different between prolactin secreting tumors in children versus adolescents.
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Visual field defects are more common in children.
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What are the three types of cancer that are at higher risk in patients with Beckwidth Wiedemann Syndrome?
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1) Wilm's tumor
2) Adrenocortical carcinoma 3) Hepatoblastoma |
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What should be checked and when in patients with Beckwith-Weidemann Syndrome?
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Abdominal U/S Q3 mos until 8
AFP every 6 weeks until 6 year |
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What is the most commonly described "overgrowth" disorder?
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Beckwith-Wiedemann Syndrome
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What hormone is responsible for the onset and progression of puberty?
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hypothalamic gonadotropin-releasing hormone (GnRH)
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Pubertal progression from Tanner 2 to Tanner 5 generally takes what time frame?
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2-5 years
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When does peak height velocity occur in female puberty?
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Breast Tanner stage 2-3 (11-12) and always precedes menarche.
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What is mean meanarche age?
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12.75 years
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Once menarche occurs, how many inches of growth generally occur?
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3 more inches
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What Tanner stage does menarche usually occur?
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Tanner stage 4.
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What is the first sign of puberty in a male?
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Testes growth and thinning of the scrotum
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When does the pubertal growth spurt occur in boys?
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Usually during genital stages IV - V between 13-14 years of age
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What is the definition of precocious puberty?
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onset of secondary sexual characteristics before the age of 8 in girls and 9 years in boys.
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When is a workup of precocious puberty recommended in females?
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- the pubertal progression is rapid
-there are neurological concerns -the bone age is advanced 2 years - the predicted adult height is less than 59 inches - or the parents are concerned |
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What is the most common cause of precocious puberty?
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idiopathic or sporadic
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What is the most common pathologic cause of precocious puberty?
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brain tumor - accounts for
10% of pp in girls 25-75% pp in boys |
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What hormone spikes help determine precocious puberty?
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LH - 50-70% in girls and more in boys
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What are gonadotropin-independent etiologies for precocious puberty in girls?
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- ovarian tumors
- ovarian cysts that over produce hormones - feminizing adrenal tumors - McCune-Albright syndrome - exogenous estrogen ingestion |
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What are gonadotropin-independent etiologies for precocious puberty in boys?
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- Congenital adrenal hyperplasia
- Adrenal tumors - Leydig cell tumors - familial male precocious puberty |
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When do menses and ovulatory cycles return after stopping leupron therapy?
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6-18 months
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What is the most common brain lesion that causes true precocious puberty?
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Hypothalamic hamartoma
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What consists of ectopic neural tissue that contains GnRH secretory neurons and functions as an accessory GnRH pulse generator?
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Hypothalamic hamartoma
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What presents on MRI as a small, pedunculated mass attached to the tuber cinereum or on the floor of the 3rd ventricle?
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Hypothalamic hamartoma
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When does LH become detectable?
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Undetectable in prepuberty,
then increases during sleep, then present during day |
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Is GnRH stimulation test more helpful in girls or boys during the evaluation of precocious puberty?
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boys
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What genetic condition makes children particularly at risk for indolent optic gliomas?
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Neurofibromatosis 1
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What test should be done if symptoms such as DI, adipsia, hyperthermia, unnatural laughing, obesity or cachexia occur? (especially with visual changes)
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MRI to look for tumors
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When is surgical intervention recommended for hypothalamic hamartomas?
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Only if intractable seizures
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What syndrome is an endocrine disorder associated with patchy pigmentation of the skin and fibrous dysplasia of the skeletal system with multiple endocrine problems
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McCune-Albright syndrome
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What is the classic endocrine presentation of vaginal bleeding alone associated with?
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McCune-Albright syndrome
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What can McCune Albright lead to?
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Precocious puberty, vaginal bleeding, hyperthyroidism, Cushing Syndrome, giantism or acromegaly, phosphaturia leads to rickets or osteomalacia, cardiac and liver damage
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What is premature thelarche?
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The isolated breast development that occurs in the first 2 years of life (diagnosis of exclusion)
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Which of the following is not a variant of normal?
- premature thelarche - premature adrenarche - premature menarche - premature testalarche |
Premature testalarche
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What chromosomal anomaly makes boys more prone to gynecomastia.
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Klinefelter syndrome
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What is premature testalarche?
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NO SUCH ENTITY
If there is a boy younger than age 9 with enlarged testes, the patient has a 25-75% chance of having a brain tumor. ORDER MRI ASAP. |
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At what age is premature Thelarche not normal and require workup?
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> age 3
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With premature adrenarche what should be monitored?
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increased risk of PCO and hyperandrogenisms as adults.
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What other conditions should be concerning in association with premature adrenarche?
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Accelerated growth,
accelerated bone age, clitoromegaly, or phallic enlargement. |
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At birth, when does the surge of TSH peak?
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12 hours of age
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What is used to differentiate non-pituitary thyrotoxic states especially Graves/hot nodules vs. thyroiditis/factitious.
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Radioiodine uptake (RAIU)
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RAIU is increased in what conditions?
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Graves disease
hot nodules (multinodular goiter, toxic solitary nodule, hCG-secreting tumor) |
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RAIU in decrease in what conditions?
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Pain-less chronic thyroiditis
Postpartum thyroiditis subacute thyroiditis thyroiditis factitia amiodarone |
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What conditions increase TBG?
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PT BENCH
pregnancy, tamoxifen biliary cirrhosis, estrogen, narcotics, clofibarate, hepatitis |
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What conditions decrease TBG?
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GANG
glucocorticoids androgens nephrotic syndrome genetics/familial |
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What blocks peripheral conversion of T4 to T3?
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GAPP
glucocorticoids amiodarone propranolol propylthiouracil |
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What blocks thyroidal release of T4 to T3?
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LIFE IMPRISONMENT
lithium iodine |
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What does amiodarone due to thyroid?
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It can cause a patient to be HYPER or HYPOthyroid but either way, RAIU will be low.
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What is the most useful test to determine whether a nodule is hot or cold?
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Thyroid scan
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How common is congenital hypothyroidism?
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1/4000
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What is the most common cause of congenital hypothyroidism?
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thyroid dysgenesis (this includes dysgenesis, agenesis and ectopic thyroid)
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What thyroid disorder has a high worldwide incidence EXCEPT in North America.
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Transient congenital hypothyroidism (usually due to iodine deficiency)
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How common is congenital hypothyroidism?
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1/30,000 infants
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Is congenital hypothyroidism more common in males or females?
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females are 2x more common
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When is the optimal time to treat congenital hypothyroidism?
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Start treatment within the first two weeks of life.
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What phenotypic presentation of congenital hypothyroidism?
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Short extremities
Enlarged posteriior fontanelle Delayed dentition Large/thick tongue. |
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Where is myxedema most commonly seen on the body?
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skin of the eyelids, back of hands and external genitalia
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What is it called when children with hypothyroidism have pseudohypertrophy?
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Kocher-Debre-Semelaigne Syndrome
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What is the diagnosis and treatment if there is low T4, increased T3R uptake, free T4 and TSH are normal?
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Congenitally low TBG and it is important NOT TO TREAT as this is not true hypothyroidism.
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What should be considered if the distal femoral epiphysis is absent at birth?
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Congenital hypothyroidism
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What skeletal abnormalities are common in congenital hypothyroidism?
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absent distal femoral epiphysis, deformed thoracic or L1, L2 vertebrae, and large sutures seen on the skull.
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What food cannot be mixed with thyroxine tablets?
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Soy protein formula and iron.
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What is the hallmark of acquired hypothyroidism?
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Growth failure (it practically ceases)
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If there is a high TSH and a low free T4 with hypothyroidism, what is the primary abnormality?
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thyroid deficiency state
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If there is a low TSH and a low free T4 with hypothyroidism, what is the primary abnormality?
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Hypothalamic or pituitary problem.
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Is autoimmune thyroiditis more common in males or females?
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females
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What is the most common cause of goiter and hypothyroidism in children > 6 years of age.
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Autoimmune thyroiditis
(Hashimoto's) |
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What is the syndrome with autoimmune thyroiditis, diabetes mellitus with or without adrenal cortical insufficiency.
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Schmidt syndrome
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A high TSH value in a patient on levothyroxine indicates what?
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Noncompliance until proven otherwise.
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What is the treatment of low T3 syndrome?
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Euthyroid sick or low T3 syndrome is a result of chronic illness. The treatment is to treat the underlying illness.
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What presents with fever and thyroid gland tenderness and pain along with signs of hyperthyroidism followed by a longer period of hypothyroidism?
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Subacute thyroiditis which is a self-limited inflammation of the thyroid that follows a URI
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Which lobe of the thyroid is affected in suppurative thyroiditis?
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left lobe
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How are thyroid functions affected by suppurative thyroiditis?
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they are normal
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What organisms commonly cause suppurative thyroiditis?
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Staph aureus, strep pyogenes and strep pneumoniae.
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What presents in children with muscle weakness, increasing anxiety, palpitations and increased appetite.
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Thyrotoxicosis
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What is the medical treatment of hyperthyroidism?
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PTU was until 2009, now methimazole is the drug of choice.
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What is the most common and most worriesome side efect of medical treatment of hyperthyroidism with PTU or methimazole?
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skin rashes are most common, granulocytopenia is the most worrisome.
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What can present in a newborn with irritability, flushing, tachycardia, hypertension, thyroid enlargement, exopthalmos and in severe disease cardiac arrhythmias.
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Neonatal thyrotoxicosis
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What is the death rate of neonatal thyrotoxicosis?
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25%
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What occurs with neonatal graves disease?
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It resolves over 3-12 weeks.
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Is a solitary thyroid nodule more likely to be malignant in someone under 20 or over 20?
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Under 20
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Hypocalcemia and hyperphosphatemia suggests what endocrine disorder?
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Hypothyroidism
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How frequently are thyroid nodules in children malignant?
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1/3 of the time
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What percent of solitary thyroid nodules are cystic lesions or benign adenomas?
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50%
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Of the thyroid nodules that are cancerous in children greater than 90% are what type?
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well-differentiated follicular carcinoma
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On a thyroid scan, which is more likely to be cancerous, hot or cold nodules?
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cold
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What is unique about medullary carcinoma?
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Its production of calcitonin (from the parafollicular or C cells of the thyroid gland)
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When is a surgical excision prefered insead of a FNA?
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If the following malignancy criteria are met:
- history of radiation to head or neck - rapidly growing nodule that is firm or hard - satellite lymph nodes - hoarseness or dysphagia - evidence of distant metastasis |
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What causes high calcium and high phosphorous?
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High levels of vitamin D
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What causes low calcium and low phosphorous?
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Low levels of vitamin D
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What causes high calcium and low phosphorus?
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Hyperparathyroidism
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What causes low calcium and high phosphorus?
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Hypoparathyroidism
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Which cells produce Calcitonin?
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Thyroid C cells
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How do glucocorticoids affect bone function?
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They help maintain osteoblast (build bone) function, but large amounts will decreases the bone matrix and cause calciuria.
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How commonly does transient neonatal hypocalcemia occur?
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60% of patient but it is usually short-lived
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How does hypomagnesemia cause hypocalcemia?
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By not permitting release of PTH.
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What do you always have to correct before you can fix hypocalcemia?
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Hypomagnesemia
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In severe cases of hypocalcemia, what EKG findings occur?
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Prolonged QT interval
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In what disease is there a normal parathyroid gland and an elevated PTH
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Pseudohypoparathyroidism
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What is the most common type of pseudohypoparathyroidism.
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Type IA
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How do patients with Type IA pseudohypoparathyroidism present?
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tetany. They have round faces and short, stocky builds with short fingers with dimpling on the dorsum of the hand.
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What is pseudopseudohypoparathyroidism?
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When a patient has the physical characteristics of pseudohypoparathyroidism, but normal calcium and phosphorous levels (abnormal genes)
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What disease has normal appearance, calcium and phosphorous, but resistance to PTH?
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Pseudohypoparathyroidism Type IB
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What disease is phenotypically normal but has hypocalcemia?
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Type II pseudohypoparathyroidism
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What is a disease of the growth plate that results in under-mineralization of the open growth plate
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Rickets
only with OPEN growth plate |
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What presents with irritability, weakness, fractures, growth retardation, frontal bossing, craniotabes, widened sutures, a rachitic rosary and flared wrists?
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Rickets
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What is the Xray finding that occurs with rickets
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Irregularity of calcification, cupping of the metaphysic, fraying and widening of the growth plate and diffuse osteomalacia and nodules on the ribs.
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Familial hypophosphatemic rickets does/does not result in hyperparathyroidism?
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does not
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What percent of a person's vitamin D is endogenously produced?
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80-90%
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What is the most common form of rickets in North America?
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Hypophosphatemic rickets
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What is the underlying disorder in hypophosphatemic rickets?
|
It is actually a kidney disease - a phosphorus-wasting disease due to decreased renal tubular resorption of phosphorus.
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What presents with
~ extremely low serum phosphorus ~ high urine phosphorus ~ elevated alkaline phosphatase ~ and normal PTH? |
Hypophosphatemic rickets
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How is Hypophosphatemic rickets inherited?
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X-linked so look for short males in the family
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MEN Type I is associated with what?
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Hyperplasia or neoplasm of
-- pancrease -- pituitary -- parathyroid |
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How is MEN Type I inherited?
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Autosomal dominant
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What is the triad of
MEN Type IIA |
Pheochromocytoma
Medullar carcinoma Hyperparathyroidism |
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What is the triad of
MEN Type IIB? |
Medullary thyroid carcinoma, pheochromocytoma
mucosal neuromas NO hyperparathyroidism |
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What presents with muscular weakness, nausea, vomiting, constipation, fever with bedwetting and polyuria?
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Hyperparathyroidism
(sx due to increased calcium) |
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If a patient is in bed immobilized in a cast with nausea, emesis, and bed wetting, what abnormality is likely to be present?
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Hypercalcemia
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What is the "classic" finding on physical exam with hyperparathyroidism?
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Abdominal pain which can be associated with acute pancreatitis
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What neurologic issues can present with long-standing hypercalcemia?
|
seizures and mental retardation.
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What is the most common etiology of hypercalcemia?
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Hyperparathyroidism
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What are common causes of hypercalcemia?
|
Hyperparathyroidism, malignancy, hypervitaminosis D, thyrotoxicosis, sarcoidosis, William syndrome and prolonged immobilization.
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What laboratory abnormalities define primary hyperparathyroidism?
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Low serum phosphorous
high serum calcium high PTH |
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What is produced by the zona Glomerulosa?
|
mineralocorticoids
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What is produced by the zona fasiculata?
|
mostly cortisol with some androgens
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What is produced by the zona reticularis?
|
mostly androgens with some cortisol
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Where on the body is pigmentation first noted with adrenocortical deficiency?
|
hands and face are first noted, but genitals, umbilicus, axilla, nipples and joints are most severe
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What are the two hormonal causes of increased pigmentation?
|
cortisol deficiency
or excessive secretion of ACTH |
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Does increased pigmentation occur with ACTH deficiency?
|
NO
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What is the most common cause of ACTH deficiency?
|
idiopathic hypopituitarism or destructive lesions such as craniopharyngioma
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What presents with increased pigmentation, salt-wasting and symptoms due to low levels of adrenaal steroids and cryptorchidism?
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Congenital Adrenal Hypoplasia due to the DAX1 gene on chromosome Xp21.
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What most commonly presents as a degenerative neurologic disorder that begins in childhood or adolescence and progresses to severe dementia with loss of vision, hearing, speech and gait and then to death within a matter of years?
|
Adrenoleukodystrophy
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What presents with scrotal hematoma?
|
hemorrhage into the adrenal glands
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When are the most definitive tests for adrenocortical deficiency conducted?
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Plasma/serum levels of cortisol before and after ACTH is given.
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How do plasma/serum levels of cortisol change before and after ACTH is given in adrenocortical deficiency
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Resting levels are low and NO INCREASE with exogenous ACTH.
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How is congenital adrenal hyperplasia (CAH) inherited?
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Autosomal recessive
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What is deficient in CAH?
|
cortisol
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What is the cause of 90% of congenital adrenal hyperplasia?
|
21-hydroxylase deficiency
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How can you differentiate 11 - beta from 21-hydroxylase deficiency?
|
11 - beta hydroxylase deficiency does not have salt-wasting.
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Males with what deficiency present with clinical findings
of premature isosexual development, appear normal at birth, then have signs of precocious puberty? |
21- hydroxylase deficiency
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What is abnormal in 21-hydroxylase deficiency GU exam?
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Testes are normal, but penis is small
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What is abnormal about the internal organs of a female with 21-hydroxylase deficiency?
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Nothing - they are normal inside, with virilization of the external genetalia.
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What presents soon after birth with failure to thrive, progressive weight loss, dehydration, vomiting and anorexia?
|
Salt-losing congeniral adrenal hyperplasia. Cardiac abnormalities are common due to electrolyte abnormalities and death can occur in the first few weeks of life.
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What is the difference in presentation between males and females with salt-wasting Congenital Adrenal Hyperplasia?
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Females have ambiguous genetalia and that usually gives them a better opportunity to be treated before they go into shock like the males.
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With classic 21-hydroxylase deficiency, with laboratory finding is very high?
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17- hydroxyprogesterone
(that is why it is used in most newborn screening tests for CAH) |
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What can frequently be confused with 21-hydroxylase deficeincy because of high 17-hydroxyprogesterone?
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3 beta-HSD defect
(which is differentiated by checking the ratio of delta 5 to delta 4 steroids in plasma and urine) |
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Who is much more likely to get CAH?
|
Someone whose sibling is affected.
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What is the treatment for CAH?
|
Hydricortisone must be continued for life with classic CAH
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What can present with virilization, accelerated growth, development of muscles, acne, and penis size but is not CAH
|
Adrenocortical tumors in children. Can also lead to Cushing's, Hemihypertrophy and Beckwith-Widemann.
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How are adrenocortical tumors treated?
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Treat with surgical and follow with radiation. They do not respond at all to chemo.
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What's the clinical difference between obesity and Cushing syndrome?
|
In Cushing syndrome there is poor height velocity and in obesity there is normal growth/height velocity.
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What is the most common cause of Cushing syndrome in infants?
|
A functioning adrenocortical tumor which is usually malignant
(50% occur under age 3) |
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What is the Carey complex?
|
blue nevi
cardiac and skin myxomas sexual precocity in boys frequently involving thyroid, pituitary tumors or melanotic schwannomas) (AD inheritance) |
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What syndrome begins in infancy/childhood and results in adrenal nodular hyperplasia and adenoma formation. Adrenal manifestations are independent of ACTH action.
|
McCune-Albright Syndrome
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In older chldren, is unilateral or bilateral adrenal hyperplasia more common?
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bilateral
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What is lost in Cushng syndrome?
|
The diurnal patter of cortisol is lost so cortisol is elevated continuously.
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In Cushings, afternoon cortisol should be?
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Extremely high
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How is the diagnosis made for Cusings if cortisol levels are inconclusive?
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Conduct a dexamethasone supression test (give dexamethasone at 11pm and check plasma cortisol level at 8 am. If level is above 5, cushings is confirmed.
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How is ACTH-dependent Glucocorticoid-suppressible aldosteronism inherited ?
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Autosomal dominant hyperaldosteronism.
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What has the classic findings of hypertension, hypokalemia and suppressed plasma renin levels? (Metabolic alkalosis is often present and calcium levels are normal)
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Hyperaldosteronism
(Plasma and urine aldosterone are increased and plasma renin is low) |
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What syndromes are commonly associated with hyperaldosteronism?
|
Bartter syndrome &
Gitelman Syndrome |
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What syndromes are commonly associated with hypoaldosteronism?
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Liddle syndrome
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Bartter and Gitelman have what in common?
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increased aldosterone,
increased renin, no hypertension |
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What is the difference between Bartter and Gitelman Syndromes?
|
Age of onset
Bartter = babies Gitelman = GIs are older |
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What is characterized by HTN, hypoK+, decreased renin, decreased aldosterone
|
Liddle Syndrome (AD inheritance)
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Where does pheochromocytoma originate from?
|
the chromaffin cells of the adrennal medulla
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What percentage of pheochromocytomas occur in children?
|
10%
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What is the peak age of pheochromocytoma in a kid?
|
6-14
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Where are most pheochromocytomas?
|
Most on the right side of the body but 1 in 5 are bilateral.
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What is the inheritance mode of pheochromocytoma?
|
autosomal dominant
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What disorders are pheochromocytomas more common in?
|
Neurofibromatosis, von Hippel-Lindau disease, MEN IIA and IIB, tuberous sclerosis, Sturge-Weber, and ataxia-telangiectasia.
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How is the clinical presentation of pheochromocytoma different in children than in adults?
|
In adults, HTN is paroxysmal, and in kids its sustained hypertention.
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Blood pressure elevations with this tumor can reach systolic levels of 180-260 and diastolic levels of 120-210?
|
Pheochromocytoma
|
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What lab finding in pheochromocytoma differs between kids and adults?
|
The primary catecholamine in children is norepinephrine and in adults it is epinephrine.
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What does the presence of urinary vanillylmandelic acid and metanephrine in the urine raise concern for?
|
Pheochromocytoma or neuroblastoma. Difference is pheo levels are higher and neuro has no HTN.
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What is very important to give to patients pre-op before they undergo removal of their pheochromocytoma?
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alpha and beta blockers and expansion of blood volume.
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Are pheochromocytomas usually malignant or benign?
|
benign, very rarely are malignant.
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What is also known as vanishing testes syndrome?
|
Primary hypogonadism: hypergonadotropic hypogonadism in males
|
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How is hypergonadotropic hypogonadism diagnosis confirmed?
|
high FSH and LH levels without a compensatory increase in testosterone with introduction of hCG?
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What is the phenotypic presentation of hypergonadotropic hypgonadism?
|
eunuchoid
(facial, pubic and axillary hair do not develop, the voice changes don't occur and the epiphyses don't close til later so they have long limbs.) |
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What syndrome results from a defect of chromosome 12 q and is an autosomal dominant trait with variable expression?
|
Noonan syndrome
|
|
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What is the most common sex chromosome abnormality seen in males?
|
47XXY
(1/500-1/1000) |
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What percent of patients with Noonan syndrome have mental retardation?
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25%
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How does the learning issues differ in Turners vs Noonan?
|
In Turner's, there is a learning disability for math, in Noonan's there is mental retardation.
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Which has sensorineural hearing loss, Turner or Noonan syndromes?
|
Noonan
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What clinically presents with mental retardation and psychiatric problems early and particularly fire-setting behavior.
|
Klinefelter Syndrome
|
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What has the classic physical presentation of tall, slim, underweight males with small testes (they stall out), small penis and gynecomastia?
|
Klinefelter's Syndrome
|
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|
What testicular problems are common in Klinefelter's Syndrome?
|
spermatogenic arrest and sertoli cell predominance, azoospermia and infertility
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When does management of Klinefelter's syndrome include testosterone?
|
Starting around 11-12
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What is the definition of microphallus?
|
< 2.5 cm
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What is the classic IQ range for patients with Prader-Willi?
|
20-80
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When does pubertal gynecomastia need to be evaluated?
|
If it is Tanner 1 or Tanner 5, younger than 10 or older than 16, chronic illness: liver, thyroid, renal; abnormal puberatal progression or greater than breast Tanner stage 3.
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What is the recommended workup for gynecomastia that is not physiologic pubertal development?
|
Thyroid, CMP, testosterone, estradidol, LH, hCG, DHEAS and chromosomes if concerned with Klinefelter's.
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If there is increased pigmentation of the nipple and areola, what should be suspected?
|
exogenous estrogen as the etiology
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If gynecomastia is associated with galactorrhea what should be suspected?
|
prolactinoma
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For girls with Turner Syndrome, when are the oocytes depleted?
|
by age 2
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What percent of fetuses with 45 X karyotype spontaneously abort?
|
99%
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What percent of girls with Turner Syndrome have 45 X chromosomal abnormality?
|
50%
|
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Does advanced maternal/paternal age affect the risk of Turner's?
|
no
|
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What are the biggest presenting features of Turner's at birth?
|
marked edema of the doorsa of the hands/feet and loose skin folds at the nape of the neck?
|
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|
What features of Turner's present in childhood?
|
webbing of the neck, low posterior hairline, small mandible, prominent ears, epicanthal folds, high-arched palate, broad chest with wide-spaced nipples, cubitus valgus, and hyper-convexity (spooning) of the fingernails
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What occurs in girls with Turners who fail to be detected prior to puberty?
|
Ther is no sexual maturation, and they present with ovarian failure.
|
|
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How do you diagnose Turners syndrome?
|
You must get a karyotype for diagnosis - a buccal smear is no longer appropriate
|
|
|
What is the most common cause of primary amenorrhea and gonadal dysgenesis?
|
Turner Syndrome
|
|
|
What heart findings are classic in Turners?
|
Non-stenotic bicuspid aortic valves (50%)
Coarctation (20%) Fewer have AS, MVP and anomalous pulmonary return. |
|
|
What renal findings are common in Turners?
|
Pelvic kidney
Horseshoe kidney Double collecting system Absence of a kidney(1/3-1/2) Hypertension |
|
|
Can girls with Turners have menses? breast development?
|
10-20% have breast development, and fewer have menses
|
|
|
What Thyroid abnormalities are common in Turners?
|
antithyroid antibodies, thyroid peroxidase, or thyroglobulin antibodies (>33% and increases with age) and 10% have autoimmune thyroid disease.
|
|
|
What skeletal abnormalities are common in Turners?
|
Shortening of the 4th metatarsal and metacarpal bones, epiphyseal dysgenesis of joints of knees and elbows, scoliosis, Madelung deformity.
|
|
|
What developmental abnormalities are common in Turners?
|
Sensorineural hearing deficits
Bilateral otitis media Gross motor delay Fine motor delay NORMAL INTELLIGENCE math difficulty |
|
|
What type of neoplasm is common in mosaic Turners?
|
These girse have a Y chromosome and are at a high risk of gonadoblastoma
|
|
|
How does Noonan syndrome present in girls?
|
Phenotypically have several feature is common with Turners except there is mental retardation and the cardiac defects are usually pulmonic, and they do go through normal sexual maturatioin that is delayed two years
|
|
|
What congenital inborn error of metabolism can lead to ovarian failure?
|
Galactosemia
|
|
|
What is classically described as obesity, hirsutism and secondary amenorrhea with bilateral bilaterally enlarged ovaries?
|
Polycystic Ovaries -PCOS also known as Stein-Leventhal Syndrome.
|
|
|
What is the most common cause of anovulatory infertility?
|
PCOS
|
|
|
What labs are present in PCOS?
|
high testosterone
high LH:FSH ratio (3-5:1) hyperinsulinemia |
|
|
What medication is used to reduce hirsutism in patient's with PCOS?
|
Spironolactone
|
|
|
What is the most common genital neoplasm in adolescents?
|
Ovarian tumors
|
|
|
What hormone is secreted by almost all genital neoplasms?
|
Estrogen, but others are alpha fetoprotein, hCG, CEA and occasionally androgens.
|
|
|
What is the most common tumor that secretes estrogen?
|
Juvenile granulosa cell tumor
|
|
|
What should be checked if a girl presents with gonadoblastoma?
|
Chromosomes because ALL OF THEM will have a Y chromosome.
|
|
|
When does Mullerian-Inhibiting substance get produced?
|
6-7weeks gestation. Without this, the female develops as a default.
|
|
|
In female pseudohermaphrodites are XX; what GU organs and appearance develops.
|
They have ovaries, uterus and fallopian tubes, but are viralized externally.
|
|
|
What causes most cases of female pseudohermaphroditism?
|
Most occur because of fetal exposure to exogenous or endogenous androgens
(ie: Congenital Adrenal Hyperplasia, maternal tumors that secrete androgens, and medications such as danazol) |
|
|
What maternal medication is is known for causing infant females with ambiguous genitalia?
|
Danazol
(used for endometriosis) |
|
|
If there is a deletion of the short arm of chromosome Y what is the affect on the infant?
|
male differentiation will not occur.
|
|
|
If there is a deletion of the long arm of chromosome Y what is the affect on the infant?
|
azoospermia & short stature
|
|
|
What syndrome occurs in 46,XY individuals and is associated with nephropathy and ambiguous genitalia or Wilms tumor?
|
Denys-Drash syndrome
|
|
|
What syndrome occurs in 46 XY infants with short-limbed dysplasia and a very high mortality in infancy?
|
Camptomelic syndrome
|
|
|
What is known as "pure" gonadal dysgenesis because it is not of chromosomal origin and is not associated with physical or growth findings?
|
Swyer syndrome
|
|
|
What presents as a normal female with normal stature and complete female phenotype at birth, with vagina, uterus and fallopian tubes, but at puberty they do not develop breasts or menstrate?
|
Swyer syndrome
|
|
|
What is the biggest concern for Swyer syndrome?
|
The gonads are undifferentiated steaks and at high risk for malignancy (at least 25%) - most often gonadoblastoma
|
|
|
What is the major defect that occurs from Leydig Cell Aplasia?
|
The affected child has testes, epididymis and vas diferens, and female phenotype but secondary sexual changes do not occur at puberty.
|
|
|
How does the patient with Leydig Cell Aplasia respond to administration of hCG?
|
It does not respond at all. This is how it is diagnosed.
|
|
|
What is the most severe form of congenital adrenal hyperplasia?
|
Lipoid adrenal hypoplasia
|
|
|
What is the last enzyme in the synthesis of testosterone?
|
17 ketosteroid reductase
|
|
|
What syndrome occurs in completely virilized males, so that they are males phenotypically and have Mulllerian ducts?
|
Persistent Mullerian Duct Syndrome.
|
