特发性低促性腺激素性性腺功能减退症的逆转治疗

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中国医学论坛报/2007年/8月/30日/第D03版

新英格兰医学杂志文章选登

特发性低促性腺激素性性腺功能减退症的逆转治疗研究

Reversal of Idiopathic Hypogonadotropic Hypogonadism

Taneli Raivio,M.D.,Ph.D. 等美国马萨诸塞州总医院哈佛生殖内分泌科学中心

等蒋鸿鑫译

背景特发性低促性腺激素性性功能减退症是一种可以治疗的男性不育症,它是由先天性促性腺素释放激素(GnRH)分泌缺陷或作用缺陷引起的,可伴有嗅觉丧失(Kallmann综合征)或嗅觉正常。病人18岁时性功能仍不成熟或性成熟不完全。以前认为特发性低促性腺激素性性功能减退症的患者需要终生治疗。我们报告15例特发性低促性腺激素性性功能减退症的男性病人,他们的病情经激素治疗后逆转,停用激素疗法后疗效继续维持。

BACKGROUND Idiopathic hy-pogonadotropic hypogonadism,which maybe associated with anosmia(the Kallmannsyndrome)or with a normal sense ofsmell,is a treatable form of male inferti -lity caused by a congenital defect in thesecretion or action of gonadotropinrelea-sing hormone (GnRH). Patients have ab-sent or incomplete sexual maturation bythe age of 18. Idiopathic hypogo-nadotropic hypogonadism was previouslythought to require lifelong therapy. Wedescribe 15 men in whom reversal of id-iopathic hypogonadotropic hypogonadismwas sustained after discontinuation ofhormonal therapy.

方法我们将特发性低促性腺激素性性功能减退症持续逆转定义为:停用激素治疗后的辜酮水平保持在正常成人水平。

METHODS We defined the sus-tained reversal of idiopathic hypogo-nadotropic hypogonadism as the presenceof normal adult testosterone levels afterhormonal therapy was discontinued.

结果回顾性研究发现10例病人达到持续逆转。前瞻性研究发现,在50例特发性低促性腺激素性性功能减退症的男性病人中,平均(±SD)中断治疗(6±3)周后,5例病人维持逆转状态。在这15例病情持续逆转的男性患者中,4例有嗅觉丧失。在最初评估时,6例病人没有青春期特征,9例病人有部分青春期特征,所有病人存在GnRH诱导的黄体生成素分泌异常。15例病人以前都曾接受过激素治疗来诱导男性第二性征和(或)生育力。在性腺功能减退被逆转的病人中,平均血清内源性塞酮水平从(55±29)ng/dl(1.9±1.0 nmol/L)升至(386±91)ng/dl [(13.4±3.2)nmol/L,P<0.001),黄体生成素的水平从(2.7±2.0)IU/L升至(8.5±4.6) IU/L (P<0.001),促卵泡激素的水平从(2.5±1.7)IU/L升至(9.5±12.2)IU/L(P<0.01),睾丸体积从(8±5)ml增至(16±7)ml(P<0.001)。有脉冲式黄体生成素分泌和精子生成的证据。

RESULTS Ten sustained reversalswere identified retrospectively. Five sus-tained reversals were identified prospec-tively among 50 men with idiopathic hy-pogonadotropic hypogonadism after amean(±SD)duration of treatment inter-ruption of 6±3 weeks. Of the. 15 men whohad a sustained reversal,4 had anosmia.At initial evaluation,6 men had absentpuberty,9 had partial puberty, and allhad abnormal secretion of GnRH-in-duced luteinizing hormone. All 15 menhad received previous hormonal therapyto induce virilization, fertility, or both.Among those whose hypogonadism wasreversed, the mean serum level of en-dogenous testosterone increased from 55±29 ng per deciliter(1.9±1.0 nmol perliter) to 386±91 ng per deciliter(13.4±3.2 nmol per liter,P<0.001),the luteiniz-ing hormone level increased from 2.7±2.0to 8.5±4.6 IU per liter(P<0.001), thelevel of follicle-stimulating hormone in-creased from 2.5±1.7 to 9.5±12.2 IU perliter(P<0.01),and

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