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33 Cards in this Set
- Front
- Back
Anterior Pituitary Hormones
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Prolactin, GH, TSH, ACTH, FSH, LH
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Somatostatin inhibits these hormones
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GH and TSH
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Abnormality of the optic nerve, agenesis/hypoplasia of septum pellucidum or corpus callosum or both, and often hypothalamic insufficiency, abnormality in transcription factor HESX1
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Septo-Optic Dysplasia (de Morsier Syndrome)
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Most common tumor to destroy hypothalamus, pituitary, or its stalk
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Craniopharyngioma
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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
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Congenital Hypopituitarism (GH deficiency)
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Normal growth through first 12 mo, slowed to 3rd percentile, normal velocity after 2-3 yrs of age, normal bone age
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Constitutional Growth Delay
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Polyuria, polydipsia, poor feeding, growth failure, irritability, fevers, new onset enuresis
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Diabetes Insipidus
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Hyponatremia, low serum osmolality, inappropriately high urine osmolality, low urine volume, high plasma volume, treat with fluid restriction
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SIADH
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AD inheritance, upward subluxation of lens, tall stature
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Marfan Syndrome
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AR inheritance, downward subluxation of lens, tall stature, mental retardation
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Homocysteinuria
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Born > 90% percentile, grow rapidly over first 12 months to >97%, rapid growth continues through 4-5 yrs, clumsy, mental retardation, normal GH levels
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Sotos Syndrome
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Fetal overgrowth, hypertrophy of organs, macroglossia, hepatosplenomegaly, nephromegaly, pancreatic B cell hyperplasia, predisposed to Wilms tumor and adrenocortical carcinoma
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Beckwith-Wiedemann Syndrome
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Most common brain lesion to cause precocious puberty, ectopic neural tissue that contains GnRH secretory neurons and fxns as an accessory GnRH pulse generator
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Hypothalamic Hamartoma
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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
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McCune-Albright Syndrome
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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
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Familial Male Gonadotropin-Independent Precocious Puberty
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Most common cause of congenital hypothyroidism
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Thyroid dysgenesis
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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)
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Congenital Hypothyroidism
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Autoimmune thyroiditis accompanied with diabetes mellitus with or without adrenal cortical insufficiency
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Schmidt Syndrome
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Only found in Graves disease
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Thyroid Stimulating Immunoglobulin
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Inflammation of thyroid occurring after URI, fever, thyroid tenderness, pain, lasts 2-9 months
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Subacute (de Quervain) Thyroiditis
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High Calcium and high phosphorus
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High Vitamin D
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High Calcium and low phosphorus
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Hyperparathyroidism
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Low Calcium and low phosphorus
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Low Vitamin D
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Low Calcium and high phosphorus
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Hypoparathyroidism
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PTH antagonist, slows down osteoclasts causing decrease in bone resorption, increases renal calcium clearance
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Calcitonin
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Maintain osteoblast function, cause calciuria
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Glucocorticoids
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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
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Autoimmune Polyendocrinopathy Disease Type 1
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Type 1 DM, thyroid disease, Addison's, associated with HLA-D3 and HLA-D4, more common in females
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Autoimmune Polyendocrinopathy Disease Type II
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Medullary stenosis of long bones, short stature, delayed bone age, eye abnormalities, episodic hypocalcemia
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Kenny-Caffey Syndrome
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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
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Pseudohypoparathyroidism Type 1A
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Bony malformation due to abnormalities in production or excretion of calcium and phosphate, disease of growth plate resulting in under-mineralization, elevated alk phos
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Rickets
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This type of rickets does not result in hyperparathyroidism
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Familial Hypophosphatemic Rickets
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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
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Familial Hypophosphatemic Rickets
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