Medical Journal of Dr. D.Y. Patil Vidyapeeth

: 2015  |  Volume : 8  |  Issue : 2  |  Page : 206--209

Role of imaging in Mayer-Rokitansky-Kuster-Hauser syndrome

Sanjay M Khaladkar, Rajesh Kuber, Dhaval K Thakkar, Anubhav Kamal, VM Kulkarni 
 Department of Radio-diagnosis, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pimpri, Pune, Maharashtra, India

Correspondence Address:
Sanjay M Khaladkar
Flat No. 5, Plot No. 8, S. No. - 26/A, Tejas Bldg., Sahawas Society, Karve Nagar, Pune - 411 052, Maharashtra

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital absence of the uterus and upper 2/3 rd of vagina with a normal 46, XX karyotype and normally developed secondary sexual characteristics. It affects 1:4000 women. It may be isolated (Type I) or frequently associated with renal, vertebral anomalies and less frequently associated with auditory, cardiac defects (Type II). It presents with primary amenorrhea in young women with normal external genitalia and normal development of secondary sexual characteristics with normal functioning ovaries and karyotype 46, XX without visible chromosomal anomaly. It was considered as sporadic anomaly but an increasing number of familial cases is suggestive of genetic cause in whom it is transmitted as autosomal dominant trait with incomplete penetrance and variable expressibility. This is suggestive of involvement of mutation in a major development gene or a limited chromosomal imbalance. Etiology of MRKH syndrome is still unclear. In order to allow sexual intercourse, treatment is aimed at creation of neovagina. Patients and their families must attend counseling before and throughout treatment as psychological distress is very important in young women with MRKH. We hereby report a rare case of MRKH syndrome in a 19-year-old married female patient presenting with primary amenorrhea, coital difficulty and no other clinical disorder.

How to cite this article:
Khaladkar SM, Kuber R, Thakkar DK, Kamal A, Kulkarni V M. Role of imaging in Mayer-Rokitansky-Kuster-Hauser syndrome.Med J DY Patil Univ 2015;8:206-209

How to cite this URL:
Khaladkar SM, Kuber R, Thakkar DK, Kamal A, Kulkarni V M. Role of imaging in Mayer-Rokitansky-Kuster-Hauser syndrome. Med J DY Patil Univ [serial online] 2015 [cited 2023 Sep 21 ];8:206-209
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