Isolated hypogonadotropic hypogonadism by GnRHR gene mutation: a pedigree report and literature review

VernacularTitle:GnRHR基因突变的低促性腺激素性性功能减退症一家系报告及文献复习
Author: Qing CHENG ; Xin LI ; Juan LI ; Yu DING ; Jian WANG ; Xiuming WANG
Keywords: isolated hypogonadotropic hypogonadism; gonadotropin releasing hormone receptor; gene mutation
From: Journal of Clinical Pediatrics 2017;35(3):203-206
CountryChina
Language:Chinese
Abstract: 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.