Men with partial androgen insensitivity syndrome (PAIS) are typically infertile, despite undergoing androgen therapy. However, although rare, there have been reported cases of fertile men with mild forms of PAIS and slightly impaired androgen receptor (AR) activity. In these cases, the external genitalia have usually been normal or very mildly affected.
There has also been a recently reported case of a man with PAIS having high-dose, prolonged testosterone therapy which resulted in significant improvement in sperm count and characteristics. In combination with an assisted reproductive technique called intracytoplasmic sperm injection (ICSI), this treatment resulted in fertility in the affected individual.
Last updated: 10/16/2013
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James E Griffin, Jean D. Wilson. Clinical manifestations and pathogenesis of disorders of the androgen receptor. UpToDate. Waltham, MA: UpToDate; 2013;
J Chu, et al. 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. J Clin Endocrinol Metab. January 2002; 87(1):347-351.
Tordjman KM, Yaron M, Berkovitz A, Botchan A, Sultan C, Lumbroso S. Fertility after high-dose testosterone and intracytoplasmic sperm injection in a patient with androgen insensitivity syndrome with a previously unreported androgen receptor mutation. Andrologia. June 30, 2013; [Epub ahead of print]: