Abstract

先天性低促性腺激素性性腺功能减退症(CHH)是罕见的影响青春期发育和成年期生育的疾病。述评通过儿童期开展CHH诊治的意义、面临的困难、遗传学研究助力儿童CHH诊断及未来的研究方向4个方面呼吁从事儿童性腺疾病诊疗的医师进行更多和深入的大型临床研究以获得更多证据,为减少性腺疾病对患儿心理、骨代谢及成年期心血管风险等的影响,为成年期生育力提升提供更多保障,为家庭避免再发生此类疾病提供背景知识。.

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