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Endocrine Fellowship Board Review > Endocrine genetics > Flashcards

Endocrine genetics Flashcards

1
Q

ACC gene

A

TP53

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2
Q

APS1 gene

A

AIRE

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3
Q

CNC Carney complex gene

A

PRKAR1A

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4
Q

PPNAD gene

A

PRKAR1A, PDE11A

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5
Q

Congenital 21-OH CAH gene

A

CYP21A1

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6
Q

HPTH gene

A

CDC73

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7
Q

Neonatal hyperparathyroidism gene

A

CASR

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8
Q

FHH gene

A

CASR, GNA11, AP2s21

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9
Q

Pseudohypoparathyroidism gene

A

GNAS

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10
Q

Autosomal dominant hypophosphatemic rickets gene

A

FGF23

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11
Q

XLH gene

A

PHEX

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12
Q

Combined pituitary hormone deficiency genes

A

PROP1
POU1F1
HESX1

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13
Q

Familial isolated pituitary adenoma gene

A

AIP

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14
Q

MODY 1 gene

A

HNF1A

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15
Q

MODY 2 gene

A

GCK

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16
Q

MODY 3 gene

A

HNF4A

17
Q

Familial hyperinsulinemic hypoglycemia/congenital hyperinsulinism

A

ABCC8

KCNJ11

18
Q

MEN1 gene

A

MEN1

19
Q

MEN1 pattern of inheritance

A

autosomal dominant

20
Q

MEN2 gene

A

RET

21
Q

MEN2 pattern of inheritance

A

autosomal dominant

22
Q

MEN3 gene

A

?

23
Q

MEN 4 gene

A

CDKN1B

24
Q

von Hippel-Lindau gene

A

VHL

25
Q

Paraganglioma/pheo gen

A 
MAX
SDHa
SDHAF2
SDHB
etc...
26
Q

McCune-Albright syndrome gene

A

GNAS1

27
Q

McCune-Albright endocrine associations

A 
Cafe au lait spots
GnRH-independent precocious puberty
Fibrous dysplasia
Acromegaly
Thyroid dysfunction
Hypercortisolism (adrenal nodularity)
Hypophosphatemic ricketts
28
Q

pseudohypoparathyroidism 1a genetic defect

A

GNAS loss of function

29
Q

pseudohypoparathyroidism 1b genetic defect

A

GNAS regulatory element (rather than GNAS itself)

30
Q

pseudohypoparathyroidism 1c genetic defect

A

abnormality in G-protein receptor coupling to PTH receptor

Endocrine Fellowship Board Review (11 decks)

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