MAYER-ROKITANSKY-KUSTER-HAUSER (MRKH) SYNDROME WITH BEHAVIOURAL DISTURBANCE AND MENTAL RETARDATION: A CASE REPORT
Journal Title: Era's Journal of Medical Research - Year 2017, Vol 4, Issue 1
Abstract
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects 1 out of 4500 female in which there is underdeveloped or absence of female genitourinary system, vagina or uterus. It is transmitted as an autosomal dominant trait with an incomplete degree of penetrance and variable expressivity. The phenotypic expression of this syndrome involve anomaly of the reproductive system. The case “ MIss X” presented with episodes of disorganised behaviour (self injurious). Miss X was provisionally diagnosed as seizure disorder with mental retardation. Detailed evaluation marked the abesnce of reproductive system. This possiblility of dual association of a major physical/anatomical abnormality and psychological disorder in young adolescent girl, is being presented here after taking valid consent.
Authors and Affiliations
Deeptanshu Agarwal, A. Q. Jilani, Priyadarshi Srivastava, S. B. Gupta, Anju Agarwal, Ajay Kohli
Keywords
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- EP ID EP282413
- DOI 10.24041/ejmr2017.7
- Views 161
- Downloads 0
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