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

Laboratory of Population and Quantitative Genetics, State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences, Fudan University (J.C., R.Z., W.Z., Y.H., Q.Q., H.Z., J.-C.W., S.T., X.L., Z.L.), Shanghai 200433, People’s Republic of China; Department of Surgery, First Affiliated Hospital of Guiyang Traditional Chinese Medicine College (Z.Z.), Guiyang 550001, People’s Republic of China; and University of Birmingham School of Biosciences (Z.L.), Edgbaston, United Kingdom B15 2TT

Address all correspondence and requests for reprints to: Dr. Zewei Luo, University of Birmingham School of Biosciences (Z.L.), Edgbaston, United Kingdom B15 2TT. or z.luo{at}bham.ac.uk

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.

This work was supported by China’s Basic Research Project (Grant G199805100) and the National Natural Science Foundation of China (Grant 39993420).

¹ J.C. and R.Z. contributed equally to this work.

Abbreviations: AIS, Androgen insensitivity syndrome.

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