Thyroid dysfunction in Mayer–Rokitansky–Kuster–Hauser syndrome: A case report and brief review of literature

ABSTRACT Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS) is a congenital disorder characterized by aplasia of the uterus and the upper part of the vagina in a phenotypic woman with a 46, XX karyotype and normal development of secondary sexual characteristics. Individuals with this syndrome may also present with renal and skeletal abnormalities. It affects 1/4500 women, and primary amenorrhea is the first sign in young women. We report a case of a 21-year-old woman with MRKHS along with autoimmune clinical hypothyroidism. This provides us with an opportunity to discuss other forms of thyroid diseases reported in MRKHS.