Inherited endocrine syndromes and MEN

P. Newey
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Abstract

This chapter begins with genetic testing for monogenic endocrine disorders, and then goes on to define the diagnosis, treatment, and management of McCune-Albright syndrome, neurofibromatosis, von Hippel-Lindau disease, Carney complex, Cowden syndrome, and POEMS syndrome. It then goes on to the clinical features and management of MEN type 1 and MEN type 2, and MEN type 4. Inherited primary hyperparathyroidism, phaeochromocytoma-paraganglioma syndromes, and renal calculi.
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遗传性内分泌综合征与男性
本章从单基因内分泌紊乱的基因检测开始,然后继续定义McCune-Albright综合征、神经纤维瘤病、von Hippel-Lindau病、Carney complex、Cowden综合征和POEMS综合征的诊断、治疗和管理。接着是男性1型,男性2型和男性4型的临床特征和管理。遗传性原发性甲状旁腺功能亢进,嗜铬细胞-副神经节瘤综合征和肾结石。
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Inherited endocrine syndromes and MEN Endocrinology in pregnancy Lipids and hyperlipidaemia Adrenal Obesity
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