010 DSD: The gynecologist perspective

Abstract

The gynecologist has a role in the Difference of Sex Development (DSD) expert team in many DSD conditions. The gynecologists’ involvement can be related to the diagnostic workup, diagnosis of associated anomalies, medical or surgical therapy, patient support, follow-up and scientific research; in 46XX disorders (ovarian development, androgen excess conditions, vaginal and Müllerian agenesis, cloacal exstrophy), 46XY disorders (testicular development, disorders of androgen synthesis and action), Turner syndrome (45X), mixed gonadal dysgenesis (45X/46XY), ovotesticular disorders (46XX/46XY or 45X/46XY), and Klinefelter syndrome (45XXY). For the women with MRKH-syndrome, the gynecologist will often act as primary attending physician, whereas in Klinefelter syndrome, this role may not go any further than the semen preservation during adolescence.