methimazole and 46--XX-Disorders-of-Sex-Development

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by aplasia of the uterus and the upper part of the vagina in an XX individual with normal development of secondary sexual characteristics. Individuals with this syndrome may also present with renal and skeletal abnormalities. We report a case of a 16-year-old girl presenting with thyrotoxicosis and primary amenorrhea. After being diagnosed with Graves disease, this patient was placed on antithyroid medication. Although her thyroid function normalized, she did not start to menstruate. Therefore, we assessed her primary amenorrhea and diagnosed the patient with MRKH syndrome through pelvic imaging. To our knowledge, an association between Graves disease and MRKH syndrome has not yet been reported.

Topics: 46, XX Disorders of Sex Development; Abnormalities, Multiple; Adolescent; Amenorrhea; Antithyroid Agents; Congenital Abnormalities; Diagnosis, Differential; Female; Graves Disease; Humans; Kidney; Methimazole; Mullerian Ducts; Pelvis; Somites; Spine; Thyrotoxicosis; Tomography, X-Ray Computed; Uterus; Vagina