先天性肾上腺皮质增生伴男性不育诊治一例及相关文献复习

Congenital Adrenal Hyperplasia Combined with Male Infertility: A Case Report

先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)患者肾上腺皮质类固醇激素合成障碍,是一种常染色体隐性遗传病,最常见为21-羟化酶缺陷型,可影响男性生育力。男性CAH患者不育主要是由于肾上腺残余瘤和促性腺激素水平的改变。CAH罕见发病,症状常不典型,临床容易漏诊,早期发现并治疗可改善男性患儿成年后的生殖功能。CAH主要使用糖皮质激素治疗,部分成年患者可恢复生育能力;不能恢复自然生育能力的可通过辅助生殖技术生育;明确诊断后尽早进行精子冷冻保存。报道我院2018年诊治的1例CAH男性不育患者的辅助生殖助孕治疗过程,对其临床资料进行整理和分析,通过文献复习该疾病的发病机制和对男性生育力的影响。

Congenital adrenal hyperplasia(CAH), an autosomal recessive disease, is characterized by the adrenocortical steroid hormone synthesis disorder. The most common type is 21-hydroxylase deficiency. This disease is generally accompanied with male infertility, which is mainly due to adrenal residual tumors and the change of gonadotropins. The diagnosis of CAH is often missed due to its rarity and atypical symptoms. The early diagnosis and treatment in childhood can improve the reproductive function of male patients in adults. CAH is mainly treated with glucocorticoid, and some of adult male patients can restore their fertility. For those male patients who can not restore their natural fertility, the assisted reproductive technology can be recommended.Meanwhile, if the diagnosis of CAH in adults was definite, the sperm cryopreservation should be done as soon as possible. In this article, we report a case of CAH with male infertility and provide a short review.