Endo Flashcards

(13 cards)

1
Q

bilateral macronodular adrenal hyperplasia gene

A

ARMC5

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2
Q

primary pigmented nodular adrenocortical disease gene (micronodular)

A

PRKAR1A

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3
Q

IHC to determine thyroid origin in undiff thyroid CA

A

TTF-1

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4
Q

21-hydroxylase def mutation

A

CYP21A2

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5
Q

adrenoleukodystrophy gene

A

ABCD1

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6
Q

congenital adrenal hypoplasia

A

ABCD1 (ATP-binding cassette)

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7
Q

genes in panNEN

A

MEN1
TSC2
ATRX, DAXX

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8
Q

AD hypoparathyroidism

A

CASR

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9
Q

APS-1 (autoimmune polyglandular syndrome-1)

A

hypoparathyroidism, candidiasis, adrenal insufficiency

AIRE gene

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10
Q

sporadic parathyroid adenoma mutations

A

cyclin D1 (CCND1)
MEN1
CDC73 - parafibromin

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11
Q

Thyroid follicular CA genes

A

RAS, PAX8::PPARG fusions

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12
Q

mutations in follicular thyroid neoplasms

A

RAS
PAX8::PPARG

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13
Q

variant of MECA in thyroid with Hashimoto

A

Sclerosing MECA with eosinophilia (SMECE)

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