查看文章

Mutations in cyclin dependent kinase inhibitor 1B (CDKN1B) are associated with multiple endocrine neoplasia type 4 (MEN4), in which patients typically develop parathyroid and anterior pituitary tumours, and occasionally tumours of the pancreas, adrenals, kidneys and reproductive organs. Here, we report a family with a missense mutation of CDKN1B (p. Pro69Leu) that did not have MEN4-associated tumours, but instead had hypomagnesaemia. The proband, presented with fatigue, cramps, thirst, hypomagnesaemia, and Hashimoto’s thyroiditis, and subsequently also developed uterine fibromas and episodic frontal alopecia. The proband, mother and stepsister had hypomagnesaemia, due to renal magnesium wasting, and Hashimoto’s thyroiditis; but none of them had primary hyperparathyroidism, pituitary tumours, pancreatic neuroendocrine tumours or phaeochromocytoma; a maternal aunt had Hashimoto’s …