Endocrine Abstracts

The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is characterized by congenital absence or underdevelopment of the uterus and upper two thirds of the vagina in females with karyotype XX, alongside normal external genitalia. The prevalence is 1 in 4000 to 5000. It can be divided into two major categories. Type 1 occurs in isolation whilst type 2 involves other organ systems, particularly the renal, vertebral, auditory and cardiac systems. Whilst sporadic in nature, the familial tendency raises the possibility of a genetic aetiology. Here, we report two unrelated cases of MRKH syndrome who are currently under the endocrine follow up at Royal Manchester Children’s Hospital. Case 1 is a 22 month old female who was born at 40 weeks’ gestation weighing 3.2 kg. She was found to have an imperforate anus at birth and cystoscopy demonstrated an absent vaginal opening. Ultrasound scan showed no müllerian structures nor ovaries. Laparoscopy revealed a hemiuterus and a fallopian tube, with normal ovarian appearances on each side. The karyotype was 46 XX, but disorder of sex development gene panel identified no pathogenic mutations. Investigations showed a serum oestradiol of <3 pmol/L at 4 weeks of age, luteinizing hormone (LH) of 0.3 U/L and follicle stimulating hormone (FSH) of 6.9 U/L at 9 months of age, anti mullerian hormone (AMH) of <0.2 pmol/L and inhibin B <9.8 pg/mL. Urology input is ongoing as a crucial part of the multi-disciplinary team management. Case 2 is a 4 year old female who was born at 38 weeks’ gestation weighing 2.06 kg. At birth, an anteriorly placed anus, an appropriately placed urethral meatus and a vagina and a faecal fistula in the vaginal vestibule were identified. Neither a uterus nor a vagina could be identified on the ultrasound or magnetic resonance scan. Renal ultrasound scan was normal but echocardiogram showed pulmonary valve stenosis. Her blood investigations showed an oestradiol of <10 pmol/L, LH 0.6 U/L, FSH 26.2 U/L, AMH 0.34 pmol/L and Inhibin B <9.8 pg/mL at 6 months of age. She is awaiting audiology assessment, due to concerns related to hearing.