41. Diagnosis of 46,XY Difference of Sex Development Condition by Retail Direct-to-Consumer Genetic Testing

Approximately 1:4000 women are diagnosed with M üllerian agenesis, typically when they are evaluated for primary amenorrhea. The most common conditions associated with Müllerian agenesis are Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) and Androgen Insensitivity Syndrome (AIS). A serum testosterone and karyotype should be performed to differ entiate between these 46,XX and 46,XY conditions. With the advent of direct-to-consumer genetic testing companies, patients may discover they have a 46,XY karyotype without genetic counseling to explain the implications.

Source: Journal of Pediatric and Adolescent Gynecology - March 29, 2020 Category: OBGYN Authors: Anne-Marie Amies Oelschlager, Sarah Miller, Katie Canalichio, Paul Merguerian, Patricia Fechner, Linda Ramsdell, Amy Lossie Source Type: research