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[男性低促性腺激素性性腺功能减退的遗传学]

[The genetics of hypogonadotropic hypogonadism in the male].

作者信息

Sievers C, Schneider H J, Stalla G K

机构信息

Max-Planck-Institut für Psychiatrie, München.

出版信息

MMW Fortschr Med. 2005 Nov 10;147(45):32-4, 36.

Abstract

Underlying causes of hypogonadotropic hypogonadism are acquired or congenital disorders of the hypothalamus or pituitary (e.g. pituitary adenoma, craniopharyngioma, prior radiotherapy, trauma, severe general diseases, extreme stress, genetic mutations). In addition to a comprehensive history and physical examination, the diagnostic work-up includes measurement of testosterone, LH and FSH, with the aim of differentiating between primary and secondary hypogonadism. Where indicated, investigation of pituitary function, the use of imaging procedures, possibly an olfactory test, a GnRH stimulation test or genetic analyses may be added. Depending upon the indication, treatment is effected with testosterone, GnRH or gonadotropines.

摘要

低促性腺激素性性腺功能减退的潜在病因是下丘脑或垂体的后天性或先天性疾病(如垂体腺瘤、颅咽管瘤、既往放疗史、创伤、严重全身性疾病、极度应激、基因突变)。除了全面的病史和体格检查外,诊断性检查还包括测定睾酮、促黄体生成素(LH)和促卵泡生成素(FSH),目的是区分原发性和继发性性腺功能减退。在有指征的情况下,可能会增加垂体功能检查、影像学检查、嗅觉测试、促性腺激素释放激素(GnRH)刺激试验或基因分析。根据指征,采用睾酮、GnRH或促性腺激素进行治疗。

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