Endocrine Abstracts

Case History: A 20-year-old lady was referred by GP to the endocrine clinic with frequent and gradually worsening non-specific headaches and primary amenorrhoea. She denied cyclical pelvic pain, acne, hirsutism or anosmia. She consulted her GP for delay in menarche when she was 16 years old but was advised to wait until the age of 18 years but unfortunately it was the middle of the Covid-19 pandemic and hence the delay in the referral. There was past medical history of migraine, Depression, asthma and behavioural problems. At the age of 2 years, she was diagnosed with cystic kidney which became non-functional later. Her medications included sumatriptan, steroid inhalers and SSRIs. There is no significant family history. On examination breast development, axillary and pubic hair development were normal indicating Tanner stage 5, BMI 24.5 with height (166 cm) and weight (63 kg) and no virilisation. She had normal peripheral visual fields.

Investigations: Her initial investigations showed elevated prolactin and serum testosterone with normal gonadotropins. Initially diagnostic focus was to rule out anatomical abnormalities and PCOS. SSRIs were stopped. Transvaginal and Transabdominal Ultrasound and showed no endometrium with normal ovaries with likely diagnosis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Subsequent MRI demonstrated that vaginal vault was partly missing and confirmed Type A MRKH syndrome. On follow up assessment prolactin was normal and headache improved following psychological therapy and she was referred to gynaecology.

Conclusions and points for discussion: MRKH syndrome, also referred to as Mullerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of vagina with normal secondary sexual characteristics and a normal female karyotype (46, XX). Diagnosis is often made during adolescence and it has an estimated prevalence of 1 in 5000 live female births. A good history and examination can narrow down the differentials significantly. In our case, the diagnosis was significantly delayed due to the factors described leading to increased stress and anxiety. The psychosexual impact of this syndrome should never be underestimated. A multi-disciplinary approach with vaginal agenesis therapy and therapeutic counselling and education with non-invasive vaginal dilations are recommended as first-line therapy and surgery as the last option.