Departement de Pédiatrie Endocrinienne, Hôpital Bicêtre-University Paris-Sud, 78 Rue du Général Leclerc, F-94275 Le Kremlin-Bicêtre, France.
Nat Rev Endocrinol. 2011 Oct 18;8(3):172-82. doi: 10.1038/nrendo.2011.164.
Congenital hypogonadotropic hypogonadism (CHH) causes pubertal failure and infertility in both women and men due to partial or total secretory failure of the two pituitary gonadotropins lutropin (LH) and follitropin (FSH) during periods of physiological activation of the gonadotropic axis. Men and women with CHH frequently seek treatment for infertility after hypogonadism therapy. Some etiologies, such as autosomal dominant or X-linked Kallmann syndrome, raise the question of hereditary transmission, leading to increasing demands for genetic counseling and monitoring of medically assisted pregnancies. Diagnosis and treatment of newborn boys is, therefore, becoming an increasingly important issue. In male individuals with complete forms of CHH, the antenatal and neonatal gonadotropin deficit leads to formation of a micropenis and cryptorchidism, which could undermine future sexual and reproductive functions. Standard treatments, usually started after the age of puberty, often only partially correct the genital abnormalities and spermatogenesis. The aim of this Review is to examine the possible additional benefits of neonatal gonadotropin therapy in male patients with CHH. Encouraging results of neonatal therapy, together with a few reports of prepubertal treatment, support the use of this novel therapeutic strategy aimed at improving sexual and reproductive functions in adulthood.
先天性促性腺激素低下性性腺功能减退症（CHH）可导致女性和男性在青春期时因两种垂体促性腺激素促黄体生成素（LH）和卵泡刺激素（FSH）的部分或完全分泌失败而导致性腺轴生理性激活期间发生青春期失败和不育。患有 CHH 的男性和女性经常在促性腺激素治疗后因不育而寻求治疗。一些病因，如常染色体显性或 X 连锁性卡尔曼综合征，提出了遗传传递的问题，导致对遗传咨询和医学辅助妊娠监测的需求增加。因此，对新生儿男孩的诊断和治疗正成为一个日益重要的问题。在完全性 CHH 的男性个体中，产前和新生儿促性腺激素缺乏会导致小阴茎和隐睾的形成，这可能会破坏未来的性和生殖功能。标准治疗方法通常在青春期后开始，通常只能部分纠正生殖器异常和生精作用。本综述的目的是探讨新生儿促性腺激素治疗对 CHH 男性患者可能带来的额外益处。新生儿治疗的令人鼓舞的结果，加上少数青春期前治疗的报告，支持使用这种旨在改善成年后性和生殖功能的新的治疗策略。
