特发性低促性腺激素性性腺功能减退症诊治专家共识解读

Interpretation of the expert consensus on idiopathic hypogonadotropic hypogonadism

特发性低促性腺激素性性腺功能减退症(简称IHH),是下丘脑促性腺激素释放激素(GnRH)分泌或作用障碍导致的一种疾病,以青春不发育和配子生成障碍为主要临床表现。性激素替代治疗可促进第二性征发育。当患者有生育需求时,促性腺激素或GnRH泵治疗,有助于配子产生。2015年中华内分泌学分会性腺学组专家,针对此病制定了专家共识。文章针对共识中存在的一些争议问题进行探讨,这些问题包括疾病命名、基因诊断、儿童IHH的识别和治疗、生精治疗中的问题等,旨在增加内分泌医生对此疾病的认识,提高诊治水平。

Idiopathic hypogonadotropic hypogonadism（IHH） is a disease caused by dysfunction of hypothalamic GnRH secretion or action. It presents with no puberty development and gametes dysgenesis. Sex hormone replacement therapy may promote secondary sex characteristics development. When fertility is required, combined gonadotropins（human chorionic gonadotropin and human menopausal gonadotropin） or pulsatile GnRH infusion is effective in gametes genesis. In 2015, a committee from the China Society of Endocrinology made an expert consensus on this disease. The following article will make a discussion on the topics arising from this expert consensus, focusing on IHH-associated genes, diagnosis and treatment of child IHH and difficulties in the treatment for spermatogenesis. The information may provide more practical knowledge for clinical endocrinologists.