摘要
目的探讨孤立性低促性腺激素性性功能减退症(IHH)的临床特点、基因突变及治疗。方法回顾分析1例IHH患儿及其家系的临床资料,并复习相关文献。结果先证者为7岁男性患儿,因阴茎和睾丸小而就诊;其弟5岁,也有阴茎小并曾有隐睾。两兄弟睾酮、黄体生成素(LH)、卵泡刺激素(FSH)水平均低下,且GnRH激发试验无反应。患儿父母非近亲结婚。Illumina测序发现兄弟俩均存在GnRHR受体(GnRHR)基因C.806C>T纯合突变,父母为C.806C>T杂合突变。明确诊断后予绒毛膜促性腺激素(hCG)治疗,6周后睾酮及双氢睾酮水平明显升高。结论结合临床表型、生化特征分析,以及基因检测,有助于早期诊断IHH。
Objective To explore the clinical feature, gene mutations and treatment of isolated hypogonadotropic hypogonadism （IHH）. Methods The clinical data from a case of IHH and his families were retrospectively analyzed. The related literatures were reviewed. Results The propositus was a 7-year-old boy with a small penis and testes, whose younger brother was 5-year-old with a small penis and cryptorchidism. In both boys testosterone, luteinizing hormone （LH）, follicle stimulating hormone （FSH） levels were low. The GnRH provocation test was not reactive. Their parents denied the consanguineous marriage. Illumina sequencing revealed that both of the brothers had homozygous mutation of GnRHR gene in C.806C〉T, and their parents were heterozygous mutations in C.806C〉T gene. After confirmation of the diagnosis, human choronic gonadotropin （hCG） treatment was given. The levels of testosterone and dihydrotestosterone were significantly increased after 6 weeks. Conclusion The combination of clinical phenotype, biochemical analysis, and gene detection is helpful for early diagnosis of IHH.
出处
《临床儿科杂志》
CSCD
北大核心
2017年第3期203-206,共4页
Journal of Clinical Pediatrics
基金
国家自然科学基金资助项目(No.81370930
81201353
81472051)
