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