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Endocrine > Endocrine Genetics > Flashcards

Endocrine Genetics Flashcards

1
Q

What is a monogenic disorder?

A

Single gene aetiology

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2
Q

What patterns of inheritance can be seen in monogenic disorders?

A 
Autosomal dominant
Autosomal recissive
X-linked recessive
X-linked dominant
Y-linked
Mitochondrial
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3
Q

What is a polygenic disorder?

A

Multiple genes often with environmental influences

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4
Q

What are indications for genetic testing in the endocrine clinic?

A 
Hyperparathyroidism/calcium related disorders
Hypoparathyroidism/hypocalcaemia
MEN1 and 2
FIPA
VHL
Phaeochromocytoma/paraganglioma
CAH 
Klienfelter/Turner's 
Disorders of sexual development
Metabolic bone disease/ skeletal dysplasia
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5
Q

What is the mode of inheritance of MEN1?

A

Autosomal dominant - MEN1 gene on chromosome 11q

Tumour suppressor gene

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6
Q

What are the 3 P’s of MEN1?

A

Parathyroid
Pituitary
Pancreas (e.g. insulinoma, gastrinoma)
Also adrenal and thyroid

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7
Q

What are the 2 P’s of MEN2?

A

Medullary thyroid cancer
Parathyroid
Pheochromocytoma

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8
Q

What does MEN1 commonly present with?

A

Hypercalcaemia

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9
Q

What mode of inheritance does MEN2a show?

A

Autosomal dominant
RET gene on choromosome 10q
Proto-oncogene - RET

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10
Q

What are the characteristics of MEN2b?

A

Medullary thyroid cancer
Phaeochromocytoma
Mafranoid body habitus
Neurommas

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11
Q

How can MEN1 cause death?

A

Malignant pancreatic neuroendocrine tumours

Thymic carcinoids

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12
Q

Classical presentation of MEN1?

A

Oligomenorrhea - prolactinoma

Raised calcium and PTH - primary hyperparathyroidism

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13
Q

How is medullary thyroid cancer treated in MEN2?

A

Prophylactic thyroidectomy

Depends on risk of RET mutation (highest risk < 1yr, moderate risk >5yrs but screening)

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14
Q

What are classical clinical features of carney complex?

A

PPNAD - primary pigmented nodular adrenocortical disease
Acromegaly due to GH-producing adenoma
Thyroid carcinoma

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15
Q

What are the symptoms of mccune albright syndrome?

A 
Cafe au lait skin pigmentation
Precocious puberty
Thyroid nodules
Pituitary - GH excess
Cushing's - adrenal
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16
Q

What is Von Hippel-Lindau?

A

Tumour suppressor gene

17
Q

What is the mode of inheritance of VHL?

A

Autosomal dominant - leads to accumulation of HIF proteins and stimulation of cellular proliferation leading to range of vascular tumors

18
Q

What are the signs of neurofibromatosis type 1?

A 
Axillary freckling
Cafe au lait patches
Neurofibromas
Optic gliomas
Scoliosis
Phaeo
19
Q

What is a paraganglioma?

A

Extra-adrenal phaeo in the sympathetic ganglion chains

Endocrine (35 decks)

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