title: Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome.
abstract: Androgen insensitivity syndrome (AIS) is a disorder of male sexual development caused by an absent or dysfunctional AR. Fertile cases with mild AIS and slightly impaired AR activity had been reported in literature, and their external genitalia were documented to be usually normal or subnormal. We reported here an Arg(840)Cys substitution in the AR gene in a large Chinese pedigree affected with AIS. The mutant gene may result in infertility for some affected males with or without hypospadias. However, it was also observed that the mutation did not affect the fertility of the other patients. The gonadotropin levels for one of these patients were within the normal range. Thus, whether normal levels of the gonadotropins are necessary for the preserved fertility of patients affected with this genetic disorder remains to be elucidated.
authors.affiliation: Laboratory of Population and Quantitative Genetics, State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences, Fudan University, Shanghai 200433, People's Republic of China.
authors.forename: Jianhua
authors.initials: J
authors.lastname: Chu
authors.forename: Rongmei
authors.initials: R
authors.lastname: Zhang
authors.forename: Zhimin
authors.initials: Z
authors.lastname: Zhao
authors.forename: Wei
authors.initials: W
authors.lastname: Zou
authors.forename: Yefei
authors.initials: Y
authors.lastname: Han
authors.forename: Qingquan
authors.initials: Q
authors.lastname: Qi
authors.forename: Hongtao
authors.initials: H
authors.lastname: Zhang
authors.forename: Jiu-Cun
authors.initials: JC
authors.lastname: Wang
authors.forename: Shiheng
authors.initials: S
authors.lastname: Tao
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Liu
authors.forename: Zewei
authors.initials: Z
authors.lastname: Luo
mesh_terms: D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D001120:Arginine / Q000737:chemistry; D002681:China; D003553:Cystine / Q000737:chemistry; D005298:Fertility / Q000235:genetics*; D006177:Gynecomastia / Q000235:genetics / Q000601:surgery; D006801:Humans; D007021:Hypospadias / Q000235:genetics / Q000601:surgery; D008297:Male; D010334:Paternity; D010375:Pedigree; D010641:Phenotype; D011944:Receptors, Androgen / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D011944:Receptors, Androgen; D003553:Cystine; D001120:Arginine