The rectum, bladder and both kidneys appeared normal. This led to the diagnosis of MRKH syndrome. Karyotyping was performed and showed normal female karyotype. Her factor VIII level at this stage was 2 IU dL−1 and VWF antigen and activity levels were both <1 IU dL−1. The findings of MRKH were discussed with the patient and her parents by a multidisciplinary team including consultant gynaecologist, haematologist, Nutlin-3 in vivo haemophilia nurse specialist, family therapist and counsellor. This
was performed in a stepwise manner and required regular meetings with the team. The patient was then given an open access to the clinic, to attend for discussion whenever she had any queries or required medical advice. The implications of having type 3 VWD also discussed, absence of uterus meant that she would not have
menstruations. However, her ovarian cycle would be normal and she would be at risk of ovulation bleeding and recurrence of ovarian haemorrhagic cysts. To prevent BMS-354825 solubility dmso recurrent ovarian bleeding and haemorrhagic ovarian cysts, the option of combined oral contraceptive pill (OCP) was discussed and commenced. A repeat MRI, 3 months later showed resolution of majority of ovarian cysts and recognition of normal ovarian tissue in both ovaries. Long-term implications and management of MRKH discussed. This included the need for vaginal dilatation and/or reconstruction when she becomes sexually active as well as her future reproductive options. We describe the first case of MRKH syndrome in a young girl with type 3 VWD. To our knowledge, coexistence of MRKH syndrome and type 3 VWD had not been previously reported. The fallopian tubes, uterus, cervix and upper two-thirds
MCE of the vagina arise from the müllerian ducts. The manifestations of müllerian abnormalities can range from minor anatomical variations in uterus up to total organ aplasia, the latter is caused by MRKH syndrome in 90% of affected women . MRKH syndrome is subdivided into two types; type 1, where MRKH occurs in isolation, and the more common type 2 where there is incomplete aplasia of the uterus and vagina together with other associated malformations. The most common associated abnormalities are of the urinary system and skeletal system abnormalities . Other abnormalities include hearing loss and rarely cardiac defects. Diagnosis of MRKH is made by physical examination and imaging techniques in adolescent girls presenting with primary amenorrhoea despite normal secondary sex characteristics. Trans abdominal ultrasonography is a non-invasive first-line investigation. MRI is used to accurately delineate uterine aplasia and the extent of vaginal aplasia. MRI can also be used to screen for other associated malformations. In this case, there was no associated abnormality of the urinary tract, echocardiography, and auditory function assessment were also normal.