Fertility after high-dose testosterone and intracytoplasmic sperm injection in a patient with androgen insensitivity syndrome with a previously unreported androgen receptor mutation

K. M. Tordjman*, M. Yaron, A. Berkovitz, A. Botchan, C. Sultan, S. Lumbroso

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Summary: We report on a case of a man with familial, X-linked, partial androgen insensitivity, in whom a new point mutation in the androgen receptor (AR) ligand-binding domain (causing a valine-to-alanine substitution at codon 686) was identified. High-dose prolonged testosterone therapy resulted in marked progression in patient's appearance and great improvement in sperm count and characteristics. In combination with intracytoplasmic microinjection, treatment resulted in fertility. This is believed to be the first report of such a case. This case supports high-dose testosterone therapeutic trial in this condition. Furthermore, it underscores the possibility of achieving fertility with current endocrine and assisted reproduction modalities, making some of these X-linked AR mutations paternally transmissible.

Original languageEnglish
Pages (from-to)703-706
Number of pages4
JournalAndrologia
Volume46
Issue number6
DOIs
StatePublished - Aug 2014

Keywords

  • Androgen insensitivity syndrome
  • Androgen receptor mutation
  • Fertility
  • High-dose testosterone
  • ICSI

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