An isolated hypogonadotropic hypogonadism male with a novel de novoFGFR1mutation fathered a normal son evidenced by prenatal genetic diagnosis
ANDROLOGIA
Authors: Xu, Hao; Li, Zongzhe; Sun, Taotao; Chen, Yingwei; Wang, Daoqi; Wang, Tao; Wang, Shaogang; Liu, Jihong
Abstract
Isolated hypogonadotropic hypogonadism (IHH) is a rare but treatable form of male infertility caused by congenital defect in gonadotropin-releasing hormone (GnRH) secretion or action. We report a Chinese IHH male with a novelFGFR1mutation who successfully fathered a normal son. Targeted next-generation sequencing, bioinformatics analysis and Sanger sequencing were performed by using the DNA extracted from the pedigree. The patient was treated with gonadotropin and was able to impregnant his wife during the treatment. Amniocentesis was performed at the 18 weeks of gestation. A novel de novo pathogenic missense variant (c.980A>G, p.Asn327Ser) in exon 8 inFGFR1gene (NM_001174067.1) was identified in the patient but not in his normal parents. This variant was also absent in the DNA obtained from the amniocentesis sample. His son has normal growth and development at the age of 2 years. This is the first case of prenatal genetic diagnosis based on the genetic testing of the IHH father by combining targeted next-generation and Sanger sequencing in IHH family. We extended the mutation spectrum ofFGFR1in IHH patients. Prenatal genetic diagnosis based on the results of genetic testing of the IHH patients may be helpful in the genetic counselling for the IHH families.
CONCOMITANT TESTOSTERONE BASED ON HCG TREATMENT RESULTED IN EARLIER MASCULINIZATION AND NO INFERIOR SPERMATOGENESIS COMPARED TO HCG ALONE IN TREATMENT OF IHH PATIENTS
JOURNAL OF UROLOGY
Authors: Chen, Yinwei; Niu, Yonghua; Xu, Hao; Wang, Daoqi; Jiang, Hongyang; Pokhrel, Gaurab; Wang, Tao; Wang, Shaogang; Liu, Jihong
Abstract
COA
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