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33 Cards in this Set

  • Front
  • Back
Anterior Pituitary Hormones
Prolactin, GH, TSH, ACTH, FSH, LH
Somatostatin inhibits these hormones
GH and TSH
Abnormality of the optic nerve, agenesis/hypoplasia of septum pellucidum or corpus callosum or both, and often hypothalamic insufficiency, abnormality in transcription factor HESX1
Septo-Optic Dysplasia (de Morsier Syndrome)
Most common tumor to destroy hypothalamus, pituitary, or its stalk
Craniopharyngioma
Normal weight/length at birth, fall <4 standard deviations by 1 yr of age, microphallus, hypoglycemia, direct hyperbilirubinemia, round head, short, broad face, frontal bone prominence, depressed "saddle-shaped" nos," bulging eyes, high pitched voice, small gonads, scant facial/axillary/pubic hair
Congenital Hypopituitarism (GH deficiency)
Normal growth through first 12 mo, slowed to 3rd percentile, normal velocity after 2-3 yrs of age, normal bone age
Constitutional Growth Delay
Polyuria, polydipsia, poor feeding, growth failure, irritability, fevers, new onset enuresis
Diabetes Insipidus
Hyponatremia, low serum osmolality, inappropriately high urine osmolality, low urine volume, high plasma volume, treat with fluid restriction
SIADH
AD inheritance, upward subluxation of lens, tall stature
Marfan Syndrome
AR inheritance, downward subluxation of lens, tall stature, mental retardation
Homocysteinuria
Born > 90% percentile, grow rapidly over first 12 months to >97%, rapid growth continues through 4-5 yrs, clumsy, mental retardation, normal GH levels
Sotos Syndrome
Fetal overgrowth, hypertrophy of organs, macroglossia, hepatosplenomegaly, nephromegaly, pancreatic B cell hyperplasia, predisposed to Wilms tumor and adrenocortical carcinoma
Beckwith-Wiedemann Syndrome
Most common brain lesion to cause precocious puberty, ectopic neural tissue that contains GnRH secretory neurons and fxns as an accessory GnRH pulse generator
Hypothalamic Hamartoma
Patchy skin pigmentation, fibrous dysplasia of skeletal system, missense mutation in gene that encodes alpha subunit of GS (protein that triggers cAMP formation), affects TSH, FSH, LH, and ACTH, precocious puberty - starts with vaginal bleeding
McCune-Albright Syndrome
AD inheritance, precocious puberty not due to GnRH stimulation but rather to missense mutation of LH receptor, high testosterone, tx with ketoconazole - inhibits 17,20-lyase and testosterone synthesis
Familial Male Gonadotropin-Independent Precocious Puberty
Most common cause of congenital hypothyroidism
Thyroid dysgenesis
Short extremities, wide open fontanelles esp posterior fontanelle, delayed dentition, large tongue, yellow skin discoloration from carotenemia, dev delay, hypotonic muscles or pseudohypertrophy (Kocher-Debre-Semelaigne syndrome)
Congenital Hypothyroidism
Autoimmune thyroiditis accompanied with diabetes mellitus with or without adrenal cortical insufficiency
Schmidt Syndrome
Only found in Graves disease
Thyroid Stimulating Immunoglobulin
Inflammation of thyroid occurring after URI, fever, thyroid tenderness, pain, lasts 2-9 months
Subacute (de Quervain) Thyroiditis
High Calcium and high phosphorus
High Vitamin D
High Calcium and low phosphorus
Hyperparathyroidism
Low Calcium and low phosphorus
Low Vitamin D
Low Calcium and high phosphorus
Hypoparathyroidism
PTH antagonist, slows down osteoclasts causing decrease in bone resorption, increases renal calcium clearance
Calcitonin
Maintain osteoblast function, cause calciuria
Glucocorticoids
2 of 3 of: autoimmune hypoparathyroidism, Addison diseae, chronic mucocutaneous candidiasis, other sx include alopecia areata, chronic active hepatitis, vitiligo, and diabetes, AR on gene 21q22.3
Autoimmune Polyendocrinopathy Disease Type 1
Type 1 DM, thyroid disease, Addison's, associated with HLA-D3 and HLA-D4, more common in females
Autoimmune Polyendocrinopathy Disease Type II
Medullary stenosis of long bones, short stature, delayed bone age, eye abnormalities, episodic hypocalcemia
Kenny-Caffey Syndrome
AD defect of alpha subunit of coupling factor required for PTH to bind to cell surface receptors, round faces, short, stocky build, short fingers with dimpling of dorsum of hand, mental retardation
Pseudohypoparathyroidism Type 1A
Bony malformation due to abnormalities in production or excretion of calcium and phosphate, disease of growth plate resulting in under-mineralization, elevated alk phos
Rickets
This type of rickets does not result in hyperparathyroidism
Familial Hypophosphatemic Rickets
X-linked, low serum phosphorus due to decreased renal tubular resorption, high urine phosphorus, elevated alk phos, normal PTH, tx with calcitriol and phosphate replacement
Familial Hypophosphatemic Rickets