Male Fertility Is Compatible with an Arg840Cys Substitution in the AR in a Large Chinese Family Affected with Divergent Phenotypes of AR Insensitivity Syndrome | Zendy

Jianhua Chu | Zendy; Rongmei Zhang | Zendy; Zhimin Zhao | Zendy; Wei Zou | Zendy; Yefei Han | Zendy; Qingquan Qi | Zendy; Hongtao Zhang | Zendy; Jiucun Wang | Zendy; Shiheng Tao | Zendy; Xiaoming Liu | Zendy; Zewei Luo | Zendy

Open Access

Male Fertility Is Compatible with an Arg840Cys Substitution in the AR in a Large Chinese Family Affected with Divergent Phenotypes of AR Insensitivity Syndrome

Author(s) -

Jianhua Chu,

Rongmei Zhang,

Zhimin Zhao,

Wei Zou,

Yefei Han,

Qingquan Qi,

Hongtao Zhang,

Jiucun Wang,

Shiheng Tao,

Xiaoming Liu,

Zewei Luo

Publication year - 2002

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jcem.87.1.8167

Subject(s) - androgen insensitivity syndrome , endocrinology , medicine , hypospadias , fertility , infertility , androgen , dysfunctional family , mutation , biology , gonadotropin , gene , genetics , androgen receptor , hormone , pregnancy , population , clinical psychology , environmental health , prostate cancer , cancer

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 Arg840Cys 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.

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