Background: Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital failure of the Mullerian duct to develop, resulting in complete or partial absence of the cervix, uterus, and vagina. It can be isolated (MRKH type I) or associated with renal, vertebral, and, to a lesser extent, auditory and cardiac defects (MRKH type II). Pituitary disease is not a known association. We report a patient who has isolated MRKH syndrome (MRKH type I) and a pituitary adenoma, diagnosed concomitantly.
Case: Young female was referred with primary amenorrhoea. On assessment she had normal secondary female sexual characteristics. There was no significant family history. Investigations were organised to rule out structural or genetic abnormalities and hypothalamic causes in view of low BMI (19). Oestradiol was low, 70 (931400 pmol/l) with inappropriately lownormal gonadotrophins. Other pituitary hormone axes were normal. MRI of pituitary showed 6mm pituitary adenoma. MRI pelvis showed absent uterus/cervix with severely hypoplastic vagina, confirming Mullerian hypoplasia. Cytogenetics showed 46XX. Her renal ultrasound was normal. The gonadotrophins and oestradiol normalised spontaneously, presumably with weight gain. Moreover, she had features of adequate oestrogenisation with normal secondary sexual characters. Future fertility and surrogacy options were discussed in a gynaecology clinic setting, in addition to providing details of support groups. The pituitary adenoma is under review from the endocrine clinic.
Discussion: The estimated prevalence of MRKH syndrome is one in 4500 female births. The etiology of MRKH syndrome remains unclear. The patients often require considerable psychological support following diagnosis. There is no known association with pituitary disease. To the best of our knowledge this is the first case of co-existing MRKH syndrome and pituitary adenoma from reported from the Western world.