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SYNDROMES
For endocrine final
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Kindergarten
02/23/2012

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Cards

Term
Defective GH receptor
Definition
Laron dwarfism
Term
increased GH w/ decreased GHBP (plasma)
Definition
Laron
Term
Tx for Laron dwarfism?
Definition
IGF1 (still can't reach full heigh potential)
Term
Pendrin syndrome gene
Definition
PENDRIN (transports I into follicular lumen); it's a I-/Cl- antiporter
Term
goiter & sensorineural hearing loss
Definition
Pendrin syndrome
Term
congenital hypothyroidism gene
Definition
NIS (Na+/I- symporter)
Term
increased ACTH, virilization, salt wasting
Definition
21-hydroxylase deficiency
Term
virilization, HTN (hypokalemia), high 11DOC low aldosterone
Definition
11 hydroxylase def
Term
congenital hypoaldosteronism (usually fatal in utero)
Definition
CYP11B2
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
17 hydroxylase def
Term
high DHEA

No T, estrogens, cortisol, MCC

ambiguous genitalia in both sexes
Definition
3B-HSD def
Term
Conn's syndrome
Definition
primary aldosteronism (usually unilateral aldosterone-secreting tumor)

-headaches, hypokal (U-waves), diastolic HTN, muscle weakness/fatigue
Term
licorice inhibits this
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
GRA
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
AIRE
Term
Autoimmune polyendocrine syndrome 2
Definition
Adrenal insufficiency + Autoimmune thyroiditis OR DM1

(almost any other autoimmune syndrome possible)
Term
hemorrhage during pregnancy --> panhypopituitarism
Definition
Sheehan's syndrome
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
WAGR
Definition
Wilms tumor
Aniridia
Gonadal dysgenesis
Retardation (mental)

deletion of WT1 & PAX6 (germline)
Term
mutation in PAX6
Definition
WAGR syndrome w/out WT1 component: Get aniridia
Term
Denys Drash syndrome
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
Frasier syndrome
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
SWYER syndrome
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
SWYER syndrome
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
congenital GH deficiency
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
GH1
PROP1
PIT1
Term
Prader Willi has a deletion of which parent's allele?
Definition
Paternal
Term
Short, fat, down-turned mouth, almond eyes, acromicria, adiposity, hypotonia
Definition
Prader Willi Syndrome
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
Leri-Weill syndrome gene
Definition
SHOX gene

short w/ mesothelioma & wrist deformities
Term
SHOX gene defect w/ short stature, mesothelioma, & wrist deformities
Definition
Leri-Weill syndrome
Term
Langer Dysplasia
Definition
SHOX gene

Severe limb aplasia (t-rex arms) & short stature
Term
T-rex arms
Definition
Langer dysplasia (SHOX)

Thalidomide
Term
VDDR1
Definition
1-alpha hydroxylase deficiency
Term
VDDR2
Definition
VDR gene mutation --> non responsive to vitamin D
Term
Hypophosphatemic rickets
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
Marfan mutation
Definition
FBN1 (AD!)
Term
lumbosacral dural ectasia
Definition
MARFANS

also: aortic dissection, ectopic lens, lumbosacral dural ectasia, long limbs & hypermobile joints
Term
SOTOS syndrome gene
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
WT2
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
BWS
Term
GNAS activation
Definition
McCune Albright
Term
Shepard's crook
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
Anosmia & hypo hypo
Definition
Kallman
Term
defect in VLCFA oxidation --> Addisons precedes neural problems
Definition
Adrenoleukodystrophy
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