CYP21A2基因复合杂合突变及多基因突变的男性无精症一例并文献复习

Male Azoospermia Caused by Compound Heterozygous Mutation in CYP21A2 Gene and Multi-Gene Mutations:A Case Report and Literature Review

CYP21A2基因突变可引起21-羟化酶缺乏症,导致先天性肾上腺皮质增生症和性腺发育异常。根据CYP21A2基因突变位点不同,21-羟化酶缺乏症的临床表型存在异质性,成年患者常以生育障碍为首诊原因。CYP21A2基因突变同时合并多基因突变的复杂病例,国内外尚少见报道。报道1例CYP21A2基因c.518T>A/c.293-13A>G复合杂合突变的男性无精症病例,该患者合并DNAJB13/DNAI1/QRICH2J/FSIP2/HYDIN多基因突变,临床表型为男性不育症,经3个月糖皮质激素治疗后获得生精功能。该病例丰富了有关男性不育症的基因型,也为此类复合杂合基因突变疾病的诊治提供了临床经验。

CYP21A2 mutation causes 21-hydroxylase deficiency(21-OHD),leading to congenital adrenal hyperplasia and gonadal dysplasia.There is heterogeneity in clinical phenotype due to the different gene mutation sites.Infertility appears to be the leading cause for adult 21-OHD outpatients.The complicated cases of the CYP21A2 mutation combined with multiple gene mutations were rarely reported in the worldwide.We reported a case of male azoospermia with the compound heterozygous mutation of c.518T>A/c.293-13A>G coding CYP21A2.Interestingly,this case was complicated with DNAJB13/DNAI1/QRICH2J/FSIP2/HYDIN multi-gene mutations.The clinical phenotype was male infertility,and spermatogenesis was established by the treatment with glucocorticoid for three months.This case report enriched the genotypes of male infertility,and provided us with experience in the clinical diagnosis and treatment of these diseases.