Term
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Definition
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Term
increased GH w/ decreased GHBP (plasma) |
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Definition
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Term
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Definition
IGF1 (still can't reach full heigh potential) |
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Term
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Definition
PENDRIN (transports I into follicular lumen); it's a I-/Cl- antiporter |
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Term
goiter & sensorineural hearing loss |
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Definition
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Term
congenital hypothyroidism gene |
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Definition
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Term
increased ACTH, virilization, salt wasting |
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Definition
21-hydroxylase deficiency |
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Term
virilization, HTN (hypokalemia), high 11DOC low aldosterone |
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Definition
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Term
congenital hypoaldosteronism (usually fatal in utero) |
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Definition
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Term
Females: amenorrhea w/ no secondary sex characteristics
Males: ambiguous genitalia
Tx w/ GCC & sex steroids |
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Definition
17 hydroxylase deficiency |
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Term
hypogonadism, hypertension, no glucocorticoids |
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Definition
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Term
high DHEA
No T, estrogens, cortisol, MCC
ambiguous genitalia in both sexes |
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Definition
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Term
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Definition
primary aldosteronism (usually unilateral aldosterone-secreting tumor)
-headaches, hypokal (U-waves), diastolic HTN, muscle weakness/fatigue |
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Term
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Definition
11 beta hydroxysteroid dehydrogenase |
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Term
glucocorticoid remediable aldosteronism |
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Definition
promotor region of p450c11 transposed in front of p450aldo --> ACTH regulates aldosterone synthesis
- give dexamethasone chronically to suppress ACTH |
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Term
HTN, low K+, Fatigue --> resolves w/ dexamethasone |
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Definition
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Term
things that can inhibit 11B-HSD |
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Definition
licorice, oral tobacco, carbenoxelone |
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Term
4 genetic syndromes that can cause pheochromocytoma |
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Definition
MEN2, VHL, Neurofibromatosis, familial pheochromocytoma |
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Term
- Most common symptom is headache - Get lactic acidosis w/ diabetes |
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Definition
Pheochromocytoma
(don't forget paroxysmal HTN) |
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Term
Sudden death in pheochromocytoma |
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Definition
CVA, MI, ventricular arrythmias, surgery |
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Term
Autoimmune polyendocrine syndrome 1 symptoms (3) |
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Definition
- mucocutaneous candidiasis - polyendocrinopathies: (hypoparathyroidism, adrenalitis, hypogonadism, pernicious anemia) - "ectodermal dystrophies: skin/dental/nail abnormalities
hypocalcemia is common in this one |
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Term
Autoimmune polyendocrine syndrome 1 mutation |
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Definition
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Term
Autoimmune polyendocrine syndrome 2 |
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Definition
Adrenal insufficiency + Autoimmune thyroiditis OR DM1
(almost any other autoimmune syndrome possible) |
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Term
hemorrhage during pregnancy --> panhypopituitarism |
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Definition
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Term
defect in diaphragm sella --> arachnoid & CSF herniates into sella --> expands sella (seen on MRI) |
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Definition
Empty sella syndrome type I
(usually asymptomatic) |
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Term
Empty sella syndrome type I |
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Definition
defect in diaphragm sella --> arachnoid & CSF herniates into sella --> expands sella (seen on MRI) |
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Term
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Definition
Wilms tumor Aniridia Gonadal dysgenesis Retardation (mental)
deletion of WT1 & PAX6 (germline) |
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Term
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Definition
WAGR syndrome w/out WT1 component: Get aniridia |
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Term
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Definition
- dominant mutation of Zn-finger of WT1 (germline)
- gonadal dysgenesis & early onset nephropathy (mesangial sclerosis)
- if you get a gonadal blastoma, think Fraiser syndrome |
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Term
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Definition
WT1 mutation (Zn finger);AD
get gonadoblastoma (& gonadal dysgenesis, pseudohermaphrodism, etc) |
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Term
WT1 w/ nephropathy instead of WT |
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Definition
Denys drash syndrome (also gonadal dysgenesis) |
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Term
WT1 w/ gonadoblastoma instead of WT |
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Definition
Frasier syndrome (still get gonadal dysgenesis) |
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Term
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Definition
decreased Leydig/sertoli cell development & function --> gonadal dysgenesis in XY |
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Term
decrease sertoli & leydig cell development and function leading to gonadal dysgenesis in XY |
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Definition
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Term
causes of SWYER syndrome (XY gonadal dysgenesis) |
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Definition
- SRY - SF1 - WT1 (denys-drash, frasier, WAGR) - DAX1 (duplication) - WNT4 (duplication) - SOX9 - DHH |
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Term
abrupt downward shift in height/weight %-tiles starting ~6-9 mo |
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Definition
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Term
cause of downward shift in %-tiles in childhood/early adolescence (e.g. 7y.o.) |
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Definition
Craniopharyngioma causing GH deficiency |
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Term
craniopharyngioma in adolescence effect on growth? |
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Definition
downward shift in height/weight %-tiles (b.c. of GH deficiency) |
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Term
3 genes that can cause GH deficiency? |
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Definition
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Term
Prader Willi has a deletion of which parent's allele? |
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Definition
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Term
Short, fat, down-turned mouth, almond eyes, acromicria, adiposity, hypotonia |
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Definition
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Term
Single inciser & wide nose bridge & hypoglycemia |
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Definition
congenital defect in midline facies --> may lead to pituitary agenesis
(lack of GH causes the hypoglycemia) |
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Term
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Definition
SHOX gene
short w/ mesothelioma & wrist deformities |
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Term
SHOX gene defect w/ short stature, mesothelioma, & wrist deformities |
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Definition
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Term
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Definition
SHOX gene
Severe limb aplasia (t-rex arms) & short stature |
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Term
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Definition
Langer dysplasia (SHOX)
Thalidomide |
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Term
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Definition
1-alpha hydroxylase deficiency |
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Term
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Definition
VDR gene mutation --> non responsive to vitamin D |
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Term
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Definition
PHEX gene --> proximal tubule phophate transport messed up b.c. no endopeptidase to cleave FGF23
- FGF23 mutation (AD, activation) or secretion by tumor (fibrous dysplasia, GNAS mutation like McCune Albright)
- Na/Pi pump mutation; hypophosphatemic hypercalciuric |
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Term
short stature w/ triangle facies |
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Definition
Russel-silver syndrome
Chr7 (11p5) hypomethylation (opposite of BWS) |
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Term
Short stature w/ cusing's-like growth pattern. Retinitis pigmentosum & mental retardation. |
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Definition
Bardet Biedl
These autosomal recessive conditions are characterized by obesity, short stature, mental retardation, and retinitis pigmentosa. |
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Term
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Definition
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Term
lumbosacral dural ectasia |
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Definition
MARFANS
also: aortic dissection, ectopic lens, lumbosacral dural ectasia, long limbs & hypermobile joints |
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Term
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Definition
nuclear receptor–binding SET domain protein 1 (NSD1) gene and is not associated with GH excess. Mentation is usually impaired. The growth rate decreases to normal in later childhood, but stature remains tall. |
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Term
fast early growth, slows later, but final stature is tall.
macrocephaly |
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Definition
SOTOS syndrome (NSD1 gene, AD) |
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Term
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Definition
Beckwidth Widemann syndrome (IGF-2)
macrosomia (big baby) visceromegaly, macroglossia, ear creases, hemihyperplasia - rapid childhood growth; maybe tall compared to MPH |
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Term
macrosomia (big baby) visceromegaly, macroglossia, ear creases, hemihyperplasia - rapid childhood growth; maybe tall compared to MPH |
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Definition
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Term
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Definition
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Term
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Definition
McCune albright (polyostic fibrous dysplasia of bone) |
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Term
3 things in MAS (& the gene for bonus points) |
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Definition
GNAS
1) polyostic fibrous dysplasia (shepard's crook) 2) Cafe au Lait (coast of maine) 3) Precocious puberty
many other endocrine disturbances possible (even phosphaturia w/ rickets!) |
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Term
Exogenous obesity w/ tall stature |
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Definition
Insulin resistance increases insulin & increases early growth, but final height is normal |
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Term
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Definition
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Term
defect in VLCFA oxidation --> Addisons precedes neural problems |
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Definition
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