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Medicine

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Endocrine

Question
10 out of 10
 

A patient presents with hyperparathyroidism. He has a family history of his siblings having pituitary involvement, pancreatic involvement, parathyroid hyperplasia and cutaneous angiofibromas. Most likely diagnosis:



A MEN 1
B MEN 2A
C MEN 2B
D MEN 2C

Ans. A

MEN 1

Multiple endocrine neoplasia (MEN)

The MEN syndromes are a group of genetic syndromes inherited in an autosomal dominant manner.

They comprise of:

1). MEN l & 2

2). Von Hippel Lindau syndrome.

3). Peutz-Jeghers' syndrome

4). Carney complex: This consists of spotty skin pigmentation, schwannomas, myxoma of skin, mucosa or heart (especially atrial myxoma), and endocrine tumours: eg pituitary adenoma, adrenal hyperplasia, testicular tumour.

MEN type-l: (Werner syndrome) (AIPG 11)

1). Parathyroid hyperplasia/adenoma (most common feature).

2). Pancreatic endocrine tumours -usually gastrinoma

3). Pituitary adenoma

MEN 2a: Sipple syndrome MEN 2b

1). Thyroid: Medullary thyroid carcinoma 1). Thyroid: Medullary thyroid carcinoma

2). Pheochromocytoma 2). Pheochromocytoma

3). Parathyroid hyperplasia 3). Mucosal neuromas and Marfanoid appearance

EXTRA EDGE: Cutaneous findings in:

1). MEN- 1 :- Cutaneous angio fibromas

2). MEN - 2a :- Cutaneous lichen amyloidosis.

3). MEN - 2b :- Cutaneous neuromas.

Extra Edge: MEN-I is caused by MEN-I gene which is a tumour suppressor gene. Menin, its protein alters transcription activation. Gene involved in MEN 2a and 2b is RET – proto oncogene, a receptor tyrosine kinase.

RET mutation do not contribute to parathyroid tumor.

Von Hippel – Lindau disease (VHL)

It is a autosomal dominant, characterize by abnormal angiogenesis, leading to retinal angioma, CNS hemangioblastoma, pheochromocytoma & renal cell carcinoma. (AIIMS May 08)

Autoimmune polyendocrine syndromes

Autoimmune disorders cluster into two defined syndromes:

Type 1: Autosomal recessive, due to mutation in AIRE (Auto immune Regulator) Gene in chromosome 21

Features:

1). Addison's disease.

2). Chronic mucocutaneous candidiasis

3). Hypoparathyroidism.

Type 2: HLA-DR3 & DR4

Features:

1). Addison's disease.

2). Type 1 diabetes mellitus.

3). Autoimmune thyroid disease – hypothyroidism or graves’ disease.

Important Points: APECED Syndrome:- Autoimmune Poly Endocrinopathy Candidiasis Ectodermal Dystrophy

Endocrine Flashcard List

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