Mullerian agenesis coexisting with gonadal dysgenesis in a lady with 46, XX karyotype: A rare case report

Abstract

Mullerian agenesis also known as Mayer-Rokitansky-Kauster-Hauser (MRKH) syndrome is a congenital disorder associated with aplasia of the upper part of vagina, cervix in a female with normal karyotype (46, XX) and well developed secondary sexual characteristics. This was a rare case of combined Mullerian agenesis and gonadal dysgenesis in an eighteen-year-old Nigerian lady who presented with primary amenorrhoea and poorly developed secondary sexual features. She had no history of cyclical abdominal pain, and attempts at penetrative vaginal intercourse. Physical examination revealed a phenotypical female with height and weight of 155cm and 42 kg respectively. Hormone profile revealed markedly elevated Luteinizing Hormone (LH) and Follicle stimulating Hormone (FSH); and raised testosterone, normal prolactin and thyroid function test. Magnetic resonance imaging revealed an absent uterus, tubes and ovaries. Chromosomal studies revealed normal female karyotype 46, XX. Intravenous urography, ultrasonography and skeletal survey showed no associated renal and skeletal abnormalities. Hormone replacement therapy with estrogen was instituted for development and maturation of secondary sexual characteristics followed by serial vaginal dilatation to enhance sexual activities. Patient is on follow up and doing well. MRKH syndrome is a rare case and can coexist with gonadal dysgenesis. This knowledge would be helpful to clinicians in the diagnosis and management of primary amenorrhoea.