A Case of Mayer-Rokitansky-Küster-Hauser Syndrome Diagnosed in Infancy After Evaluation of Palpable Gonads

Abstract Background Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is defined as incomplete development of Mullerian structures (uterus, fallopian tubes, proximal vagina) in an otherwise phenotypic female. MRKH syndrome typically presents in adolescence with primary amenorrhea but has been diagnosed in younger patients who present with other associated abnormalities, most commonly renal and skeletal. Case Here we describe a 46,XX female infant with prenatally diagnosed renal anomalies found to have bilateral inguinal ovarian hernias at one month of age. Imaging of the genitourinary system revealed absence of the uterus and proximal vagina, consistent with MRKH syndrome. Summary and Conclusions This case highlights the importance of a thorough physical examination and an interdisciplinary team evaluation of infants with genitourinary anomalies, particularly when there is concern for differences in sexual development.