Section 1: Case history: A 17 year old lady who was referred to our endocrinology clinic due to primary amenorrhoea in 2019. She had well-established secondary sexual characteristics and hyperprolactinaemia. Patient mentioned one episode of PV bleed when she was about 10 years old.
Section 2: Investigations: Bloods (Feb2020) showed: FSH: 6.2 IU/l; LH: 5.1IU/l; prolactin 1.048 mIU/l; testosterone 1.3 nmol/l. MRI pituitary: lipoma of corpus calosum and pituitary gland asymmetry likely microprolactinoma; MRI pelvis: agenesis of the uterus and upper two thirds of her vagina; minimal lower vaginal vault; bilateral intra-pelvic ovaries Genetic testing: 46 XX with no mosaicism; Bone densitometry DXA: normal.
Section 3: Results and treatment: Diagnosis made as MRKH (Mayer-Rokitansky-Küster-Hauser) syndrome type 2. As we know MRKH is a congenital abnormality (1:4,500 live births) affecting the uterus and upper vagina and can be of two sub-types. In type 1 there is isolated congenital aplasia of uterus and two thirds of vagina, while in type 2, there is at least one other organ involvement such as vertebral defect, renal abnormality, hearing defect and cardiac involvement. She was referred for further management to the MRKH national centre in London. Echocardiogram was normal, renogram was normal. MRI spine showed normal spinal cord but a right carotid body tissue lesion suggestive of carotid body paraganglioma. MRI neck pointed towards schwannoma with normal metanephrines and she is under follow up. She was started on Microginon 30 for 6 months which increased her uterine size significantly from 29 to 49 mm.
Section 4: Conclusions and points for discussion: Endocrinology clinic follow up: brought up a relevant and important question regarding fertility option. She has intact and functioning ovaries but agenetic uterus and vaginal structure. Therefore options and expectation management are vital in such a presentation. Referring to fertility clinic for possibility of donor egg and IVF surrogacy or even egg freezing for future. This is line with the possibility of ovarian failure. Fertility might be achieve via egg collection and IVF surrogacy or even uterus transplantation. We face a few challenges in this situation regarding her oestrogen replacement for bone protection as her ovaries are still producing oestrogens.
References: 1. Diminished ovarian reserve and ectopic ovaries in patients with MRKH syndrome candidates for Uterus Transplantation: our experience; Author: Basilio Pecorino;Clinical and Experimental Obstetrics & Gynecology,(2021)2. Uterine transplantation in women with MRKH; Author: Weyers, S; EJOG 273; Netherlands, Amsterdam; 2022