MRKH syndrome and microprolactinoma co-presentation: an unusual cause of primary amenorrhoea

R Swain, B Inayat, N Haya, A Qureshi, Royal United Hospital, Bath

Mayer-Rokitansky-Kustner-Hauser (MRKH) syndrome, otherwise known as Mullerian agenesis is a congenital disorder characterised by aplasia of the uterus and upper part of the vagina in females with otherwise normal secondary sexual characteristics and normal female karyotype. It is the most common cause of primary amenorrhoea, affecting 1 in 5000 live female births. There are two subtypes; type 1 is limited to utero-vaginal agenesis whereas type 2 is associated with additional extragenital anomalies, which most commonly include renal, skeletal, cardiac, digital malformations and hearing impairments. The most severe type of MRKH type 2 is Mullerian hypoplasia, Renal agenesis and Cervicothoracic somite dysplasia (MURCS) association.

The aetiology of this condition remains unknown but is currently considered to be sporadic with a multifactorial, polygenic inheritance pattern. As in-vitro fertilisation using surrogacy and uterine transplantation become increasingly available, it is hoped that more affected women will be able to have their own biological children and that further genetic linkage may subsequently be revealed.

We present the case of a 17 year old female referred to endocrinology by GP (via gynaecology team) for mild hyperprolactinemia, primary amenorrhoea and pre-pubertal uterus on pelvic US.

Her past medical history was unremarkable; she was not sport enthusiast and was on no regular medications. She had a normal BMI and age appropriate normal secondary sexual characteristics. Her pituitary profile in August 2019 was as follows; TSH 2.3, FSH 6.2, LH 5.8, prolactin 647 (102-496), testosterone 1.5, SHBG 55. In February 2020; FSH 6.2, LH 5.1, prolactin 1048 (macroprolactin negative), Oestradiol 103pmol/l. Genetics showed normal female karyotype 46XX. US pelvis demonstrated a pre-pubertal uterus and repeat US pelvis after 6 months of oestrogen therapy showed no meaningful changes in pelvic organs. Pelvic MRI showed features suggestive of MRKH syndrome: agenesis of the uterus and upper two thirds of vagina, with minimal lower vaginal vault and normal kidneys. Left ureter was dilated and there was pseudo-arthrosis at L5/S1 level. MRI pituitary showed incidental curvilinear lipoma of corpus callosum with no evidence of hypoplasia. The pituitary gland showed asymmetry, with more tissue on the left side. X-rays confirmed adult bone age.Diagnosis of MRKH syndrome in association with pituitary microprolactinoma is secured. Literature search showed two previous case reports of this unusual co-presentation. The aetiology of this concurrence, whether it is a mere co-incidence or if there is a genetic linkage, remains elusive. Further research is needed.

Further plans for this patientís follow up include: 1) ECHO and cardiac MR, 2) hearing test, 3) referral to MRKH MDT clinic for counselling and attend forum meeting, 3) gynae to discuss optimization of existing vaginal structure and family planning options, 4) treatment for hyperprolactinemia, 5) urologist review and 7) whole spine MRI and 8) DEXA.