Infants born with severe central disorders of the hypothalamic-pituitary-gonadal axis leading to gonadotropin deficiency not only lack pubertal development in adolescence, but also lack infantile mini-puberty. This period of mini-puberty, where infants have gonadotropin and sex steroid concentrations up into the adult range, is vital for future reproductive capacity, particularly in boys. At present, there is no consensus on the diagnosis or management of infants with gonadotropin deficiency due to congenital hypogonadotropic hypogonadism or multiple pituitary hormone deficiency. Case series suggest that gonadotropin treatment in male infants with absent mini-puberty is effective in promoting both testicular descent in those with undescended testes and also facilitating increased penile size. Moreover, replacement with follicle-stimulating hormone increases the testicular Sertoli cell population, measurable as an increase in testicular volume and inhibin B, thus hypothetically increasing the capacity for spermatogenesis in adult life for these patients. However, long-term follow-up data is limited for both outcomes pertaining to fertility and nonreproductive sequelae, including neurodevelopment and psychological well-being. The use of international registries for patients with gonadotropin deficiency is a key element in the collection of high-quality, geographically widespread data to inform best-practice management from birth to adulthood.

中文翻译：

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联合促性腺激素治疗替代先天性低促性腺激素性性腺功能减退症男婴的小青春期


出生时患有下丘脑-垂体-性腺轴严重中枢疾病导致促性腺激素缺乏的婴儿不仅缺乏青春期的青春期发育，而且缺乏婴儿期的小青春期。在这个小青春期，婴儿的促性腺激素和性类固醇浓度达到成人范围，对于未来的生殖能力至关重要，尤其是男孩。目前，对于先天性低促性腺激素缺乏症或多种垂体激素缺乏症所致婴儿促性腺激素缺乏症的诊断或治疗尚无共识。病例系列表明，对缺乏迷你青春期的男性婴儿进行促性腺激素治疗，可有效促进睾丸未降患者的睾丸下降，并促进阴茎尺寸增大。此外，用促卵泡激素替代会增加睾丸支持细胞数量，可通过睾丸体积和抑制素 B 的增加来测量，因此假设增加了这些患者成年后的生精能力。然而，与生育和非生育后遗症相关的结果（包括神经发育和心理健康）的长期随访数据有限。使用促性腺激素缺乏症患者的国际登记是收集高质量、地理广泛的数据的关键要素，以便为从出生到成年的最佳实践管理提供信息。