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Genetic and Rare Diseases Information Center (GARD)

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Partial androgen insensitivity syndrome


Other Names for this Disease

  • Androgen insensitivity syndrome, partial
  • Androgen insensitivity, partial, with or without breast cancer
  • Androgen resistance syndrome, partial
  • PAIS
  • Reifenstein syndrome, partial
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Your Question

Can a boy born with partial androgen insensitivity syndrome still have kids or are they always infertile?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Are all males with partial androgen insensitivity syndrome infertile?

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.[1][2]

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.[3]
Last updated: 10/16/2013

References
  • 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]:
Other Names for this Disease
  • Androgen insensitivity syndrome, partial
  • Androgen insensitivity, partial, with or without breast cancer
  • Androgen resistance syndrome, partial
  • PAIS
  • Reifenstein syndrome, partial
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.