ea0050cc03 | Featured Clinical Cases | SFEBES2017
Iacovazzo Donato
, Kumar Ajith
, Abbs Stephen
, Solomon Andrew
, Korbonits Marta
, Druce Maralyn
Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...