Title: Torsion of Ovarian Dermoid Cyst with MRKH Syndrome - A Rare Presentation
Authors: Dr Eram Ali, Dr Tamkin Khan, Dr Dalia Rafat
DOI: http://dx.doi.org/10.18535/jmscr/v3i11.31
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. Women with this syndrome usually present at young age with primary amenorrhoea as first sign. Increasing number of familial cases of MRKH syndrome support the hypothesis of a genetic cause and the syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. However, the etiology of MRKH syndrome still remains unclear. Association of MRKH syndrome with various malignant ovarian masses (sertoli and epithelial cell tumour) have been reported, however vary few cases of MRKH syndrome with dermoid cyst of ovary has been reported till date. At present, ovarian pathologies are not considered to be part of the MRKH or MURCS clinical spectrum, as no association between these pathologies and utero-vaginal aplasia have been reported so far. Hence we are reporting this rare case of torsion of dermoid cyst ovary with MRKH syndrome with late and uncommon presentation. Key Words: MRKH-Mayer-Rokitansky-Küster-Hauser, MURCS - Mullerian duct aplasia, renal dysplasia and cervical somite anomalies
Abstract
