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47 Cards in this Set
- Front
- Back
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hypopituitarism etiology
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congenital
acquired --> radiation therapy (ALL), hypothalamic pituitary stalk or anterior pituitary lesions (craniopharymgioma), other tumors, TB, sarcoidosis, trauma, anoxia |
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congenital hypopituitarism presentation
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normal size and weight at birth followed by severe growth failure in first year
neonatal emergencies (apnea, hypoglycemic seizures) dysmorphic features and pudgy appearance |
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acquired hypopituitarism presentation
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gradual and progressive
weight loss cold sensitivity mental stupor no sexual maturation amenorrhea hypoglycemia decreased growth diabetes insipidus |
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hypopituitarism diagnosis
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screening --> low IGF-1 and IGF-BP3
definitive --> GH stimulation test MRI --> indicated in all patients with hypopituitarism other tests --> TSH/T4, ACTH, cortisol DHEA-S, gonadotropins x-ray --> destructive lesions are seen as erosions and calcifications bone age --> skeletal maturation markedly delayed (75% of CA) |
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hypopituitarism differential diagnosis
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systemic conditions
constitutional delay genetic short stature primary hypothyroidism emotional deprivation |
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hypopituitarism treatment
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if classic GH deficiency --> weekly recombinant GH
need periodic thyroid evaluation |
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indications of growth hormone therapy
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documented GH deficiency
Turner end-stage renal disease before transplant Prader-Willi IUGR without catch-up growth by 2 years |
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tall stature differential diagnosis
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familial tall stature (MCC)
fetal overgrowth --> infant of diabetic mother, Beckwith-Wiedmann, cerebral gigantism postnatal --> exogenous obesity, excess GH, precocious puberty, Marfan, hyperthyroidism |
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hyperpituitarism etiology
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primary --> adenomas (rare)
secondary --> deficiencies of target organ, excessive prolactin (MCC) and GH secretion |
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hyperpituitarism diagnosis
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screening --> IGF-1 and IGF-BP3
confirmation --> glucose suppression test all patients need MRI of pituitary chromosome testing for XXY and fragile X thyroid tests |
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hyperpituitarism management
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treat only if prediction of adult height > 3 SD above mean or evidence of severe psychosocial impairment
trial of sex steroids to accelerate puberty and closure of epiphyseal plates |
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precocious puberty definition
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girls --> sexual development before 8
boys --> sexual development before 9 |
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precocious puberty presentation
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advanced height, weight and bone age with early epiphyseal closure
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precocious puberty diagnosis
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screening --> significant increase in LH
definitive --> GnRH stimulation test (IV GnRH with increase in LH) if positive --> MRI |
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congenital hypothyroidism etiology
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most are primary
thyroid dysgenesis defect in thyroid hormone synthesis transient neonatal hypothyroidism (resolves by 3 months) transplacental passage of maternal thyrotropin central hypopituitarism exposure to radioiodine, iodine, antithyroid drugs |
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congenital hypothyroidism presentation
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prolonged jaundice
macroglosia umbilical hernia edema mental retardation developmental retardation wide anterior and posterior fontanels open mouth hypotonia |
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congenital hypothyroidism diagnosis and treatment
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diagnosis --> low T4 with high TSH
treat --> sodium thyroxine |
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acquired hypothyroidism etiology
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Hashimoto
Down Turner Klinefelter iatrogenic --> medications, radiation, surgery) systemic diseases --> cystinosis, histiocytosis |
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acquired hypothyroidism presentation
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usually in adolescence
deceleration of growth myxedema constipation cold intolerance incresed sleep delayed puberty |
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acquired hypothyroidism diagnosis and treatment
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diagnosis --> low T4 with high TSH
treat --> sodium thyroxine |
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autoimmune polyglandular disease type I
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hypoparathyroidism
Addison mucocutaneous candidiasis autoimmune thyroiditis |
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autoimmune polyglandular disease type II
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Schmidt syndrome
Addison + type I diabetes +- thyroiditis |
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hyperthyroidism presentation
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gradual onset of:
exopthalmus (lymphocytic infiltration of retro-orbital tissue lymphadenopathy and splenomegaly thymic hyperplasia emotional lability and motor hyperactivity decreased school performance tremors increased apetitie with weight loss tachycardia, arrhythmias, palpitations thyroid storm --> acute onset hyperthermia, severe tachycardia, restlessness to coma |
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hyperthyroidism diagnosis
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high T4 + low TSH
anti-peroxidase antibodies anti-TSH receptor antibodies |
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hyperthyroidism treatment
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PTU or methimazole
beta blocker for acute symptoms if medical treatment fails --> radioablation or surgery + thyroid replacement |
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hypoparathyroidism etiology
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parathyroid aplasia or hypoplasia --> DiGeorge
X-linked recessive --> embryogenesis defect AD --> mutation in calcium-sensing recptor thyroid surgery polyglandular disease idiopathic |
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hypoparathyroidism presentation
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muscle pain, cramps, numbness
laryngeal and carpopedal spasm hypocalcemic seizures |
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hypoparathyroidism diagnosis
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low serum calcium
increased serum phosphorus low alkaline phosphatase low calcitriol low PTH QT prolongation |
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hypoparathyroidsm treatment
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emergency for neonatal tetany --> IV 10% calcium gluconate + 1,25OH D3
maintainance treatment --> calcitriol + adequate calcium intake |
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hypoparathyroidism differential diagnosis
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magnesium deficiency
inorganic phosphorus poisoning ALL chemo |
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21 hydroxylase deficiency presentation
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hypoglycemia
hyponatremia hyperkalemia weakness hypotension weight loss in females --> masculinization (high androgens) |
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21 hydroxylase deficiency diagnosis
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increased 17-OH progesterone
hyponatremia hypoglycemia hyperkalemia high renin low aldosterone definitive test --> 17-OH progesterone measurement after ACTH bolus (ACTH stimulation test) |
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21 hydroxylase deficiency treatment
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hydrocortisone + fludrocortisone
corrective surgery for females |
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congenital adrenal hyperplasia causes
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21 hydroxylase deficiency
11 beta hydroxylase deficiency 17 alpha hydroxylase deficiency 3 beta hydroxysteroid deficiency |
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3 beta hydroxysteroid deficiency
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salt-wasting
male and female pseudohermaphroditism postnatal virilization precocious pubarche increased 17-OH pregnenolone and DHEA |
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11-beta-hydroxylase deficiency
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female pseudohermaphroditism
postnatal virilization hypertension from high corticosterone high androgens hypokalemia |
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17-OH deficiency
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male pseudohermaphroditism
hypertension from high deoxycorticosterone hypokalemia |
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Cushing syndrome etiology
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exogenous glucocorticoid administration (MCC)
adrenocortical tumor pituitary adenoma --> Cushing disease |
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Cushing syndrome presentation
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moon facies
truncal obesity impaired growth striae delayed puberty and amenorrhea hyperglycemia hypertension osteoporosis with pathologic fractures |
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Cushing syndrome diagnosis
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initial test: 1mg overnight dexamethasone suppression test; if abnormal or false+ -->
24-hour urine free cortisol; if normal, exclude Cushing, if abnormal Cushing syndrome diagnosis etiology high dose dexamethasone suppression --> if supression to <50% of control then pituitary adenoma if no response --> ACTH-producing tumor or adrenal hyperplasia --> ACTH level if high, then it's ACTH-producing tumor (do chest CT) if low it's adrenal hyperplasia --> urinary 17KS, DHEA-S, abdominal CT if high and >4cm mass then its adrenal CA if normal or <4cm mass then adrenal adenoma |
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Cushing syndrome treatment
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remove tumor or adrenals
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type I diabetes etiology
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T-cell mediated destruction of islet cells, insulin autoantibodies, glutamic acid decarboxylase
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type I diabetes pathophysiology
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hyperglycemia --> osmotic diuresis and glycosuria
loss of fluids, electrolytes and calories accelerated lipolysis --> increased fatty acids --> ketone bodies --> metabolic acidosis and Kusmaul respiration --> coma |
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type I diabetes presenattion
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polyuria
polydipsia polyphagia weight loss 20-40% present with diabetic ketoacidosis |
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type I diabetes diagnosis
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impaired glucose test --> fasting glucose > 110-126mg/dL OR glucose 125-200mg/dL after 2 hours on glucose tolerance test
diabetes --> symptoms + 2 fasting glucose > 126mg/dL OR 2-hour OGTT > 200mg/dL diabetic ketoacidosis --> hyperglycemia, ketonuria, increased anion gap metabolic acidosis, hyperosmolarity |
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type I diabetes treatment
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insulin + diet modification + exercise
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type 2 diabetes
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most common cause is childhood obesity
insidious onset of weight gain, fatigue, glycosuria and acanthosis nigrans |
