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An 18-year-old virginal woman was referred to the reproductive endocrinology clinic with primary amenorrhoea and secondary sexual development in the absence of pelvic pain. Additionally, she had significant congenital sensorineural hearing loss, autism, bipolar disorder and class III obesity. On physical examination, secondary sexual development was confirmed (Tanner 5 breasts and Tanner 4 pubic hair). She refused further pelvic examination following prior attempts by the referring physicians. Serum leutinizing hormone (LH), follicle sitmulating hormone (FSH). prolactin, estradiol and total testosterone values were within normal limits. Karyotype was 46,XX. MRI demonstrated complete uterine agenesis, short vagina, sacral dysgenesis with complete absence of the coccyx and a horseshoe kidney. Diagnosis of Mayer-Rokitansky-Küster-Hauser Syndrome type 2 was established based on clinical, laboratory and MRI findings. The patient and family were counselled regarding the disease process, techniques for vaginal elongation, sexual activity and future reproductive options.

bmj case reports

Multiorgan system structural malformations associated with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) type 2: avoiding pitfalls in diagnosis, counseling and treatment