伴CHD7基因突变的男性性腺功能减退1例报告并文献复习

CHD7 gene mutation and male hypogonadism:a case report and literatures review

目的探讨染色质结构域解旋酶DNA7基因(CHD7)与男性低促性腺功能减退症相关性。方法我们分析1例男性低促性腺功能减退症(HH)患者,因性发育不良就诊,发现小阴茎、小睾丸、阴毛稀疏,全基因外显子测序发现CHD7基因错义突变,应用注射用绒促性素(hCG)、注射用尿促性素(h MG)联合十一酸睾酮软胶丸治疗。先证者父母行Sanger测序未发现CHD7基因杂合突变。结果患者男性第二性征明显改善,阴茎增长,勃起频繁,阴毛增多,睾丸增大,出现精液。结论CHD7基因突变与男性性腺功能减退症关系密切,自然妊娠后代遗传概率高。

Objective To explore the correlation between chromatin domain helicase DNA7 gene(CHD7)and male hypogonadotropic hypogonadism.Methods We analyzed a male hypogonadotropic hypogonadism(HH)patient who was diagnosed with sexual dysplasia and found that the patient had small penis,small testes,and sparse pubic hair.Whole gene exon sequencing revealed a missense mutation in the CHD7 gene.The patient received h GG,hMG and testosterone Undecanoate soft pills treatment.Sanger sequencing of the parents of the proband showed no heterozygous mutations in the CHD7 gene.Results The patient’s secondary sexual characteristics improved significantly,the penis grew,the erection was frequent,the pubic hair increased,the testicles enlarged,and semen appeared.Conclusion CHD7 gene mutation may be related to male hypogonadism,and the genetic probability of natural pregnancy offspring is high.