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对一名1型不完全性男性假两性畸形青春期男孩的临床及内分泌评估。

The clinical and endocrine evaluation of a pubertal boy with incomplete male pseudohermaphroditism type 1.

作者信息

Viinikka L, Hammond G L, Hortling H, Leinonen P, Vihko R

出版信息

Ann Clin Res. 1981 Feb;13(1):34-8.

PMID:7247323
Abstract

Serum LH, FSH, prolactin, oestradiol, testosterone, 5 alpha-dihydrotestosterone, androstenedione, androsterone, progesterone, 17-hydroxyprogesterone and cortisol concentrations were measured in a pubertal boy suffering from gynaecomastia. At birth he had hypospadias, a scrotal anomaly, an abnormally small penis and unilateral cryptorchidism. At puberty, a small ejaculate volume with normal sperm concentration was recorded. Under basal conditions the serum concentrations of testosterone, oestradiol, 5 alpha-dihydrotestosterone, 17-hydroxyprogesterone and androsterone were clearly above normal, and they were not suppressed by dexamethasone as was the serum cortisol, which also showed normal diurnal variation. This suggested that the overproduction of sex steroids was of testicular origin. The serum LH was also elevated under basal conditions, while the serum FSH was in the reference range. The serum LH was not suppressed by ethinyl oestradiol administration, as the serum FSH was. The clinical observations and endocrine data are interpreted as indicating a partial failure in androgen action, responsible for the genital abnormalities observed and the deficiency in the hypothalamo-pituitary regulation of gonadotropin secretion, and are indicative of the findings described in connection with an unusual form of incomplete male pseudohermaphroditism type 1.

摘要

对一名患有男性乳房发育症的青春期男孩测定了血清促黄体生成素(LH)、促卵泡生成素(FSH)、催乳素、雌二醇、睾酮、5α-双氢睾酮、雄烯二酮、雄酮、孕酮、17-羟孕酮和皮质醇的浓度。他出生时患有尿道下裂、阴囊异常、阴茎异常小和单侧隐睾症。青春期时,记录到射精量少但精子浓度正常。在基础条件下,睾酮、雌二醇、5α-双氢睾酮、17-羟孕酮和雄酮的血清浓度明显高于正常水平,且它们不像血清皮质醇那样被地塞米松抑制,血清皮质醇也显示出正常的昼夜变化。这表明性类固醇的过量产生源于睾丸。基础条件下血清LH也升高,而血清FSH在参考范围内。血清LH不像血清FSH那样被乙炔雌二醇抑制。临床观察和内分泌数据被解释为表明雄激素作用部分失败,这导致了所观察到的生殖器异常以及下丘脑-垂体对促性腺激素分泌调节的缺陷,并且表明了与一种不寻常形式的1型不完全男性假两性畸形相关的发现。

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