Background: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in patients with a normal female phenotype and 46, XX karyotype. Various anomalies may accompany MRKH. The number of cases with accompanying hyperandrogenemia is limited.
Case presentation: We describe a combination of Mullerian agenesis and hyperandrogenemia (total testosterone level 0.85 ng/ml) in a patient presenting with primary amenorrhea and mild hirsutism.
Conclusion: Mullerian agenesis describes a broad spectrum that may also be accompanied by hyperandrogenemia. Androgen levels should be investigated in patients with Mullerian agenesis when even mild findings of clinical hyperandrogenemia are present, and these case should be monitored to see whether or not hyperandrogenemia accompanies the syndrome.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology