Acne and PCOS are less frequent in women with Mayer-Rokitansky-Küster-Hauser syndrome despite a high rate of hyperandrogenemia: a cross-sectional study

Background Acne is a very common skin condition during adolescence and adulthood. Patients with uterovaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome, MRKH) treated at the Tubingen University Center for Rare Female Genital Malformations, however, clinically appeared to be less frequently affected by acne. The etiology of MRKH syndrome remains unknown. The only known MRKH-associated mutations are located within the WNT4 gene and lead to an atypical form of MRKH syndrome associated with clinical and biochemical hyperandrogenism. Our study aimed to assess the frequency, severity, and self-evaluation of acne in MRKH patients and to correlate the clinical findings with hormone analyses.