Mullerian Agenesis - Genetic Inheritance: A Case Report
Journal Title: INTERNATIONAL JOURNAL OF SCIENTIFIC STUDY - Year 2017, Vol 5, Issue 3
Abstract
Mayer-Rokitansky-Kuster-Hauser is a malformation complex comprising absent vagina and absent or rudimentary uterus. This is understandable given the incomplete degree of penetrance, variable expressivity, and similarities of this syndrome with other genetic disorders. A 22-year-old unmarried female presented to Santokba Durlabhji Memorial Hospital, Gynaecology Department, with a complaint of primary amenorrhea. Her secondary sexual characters were well developed. Pubic and axillary hairs well-developed tanner stage 4, breast development is also tanner stage 4. Her daughters of her 2 uncles were having the same complaint of primary amenorrhea having age 18 and 16 years. A multidisciplinary and comprehensive approach must be sought for mullerian agenesis.
Authors and Affiliations
Nishi Gupta, Seema Kumari, Juhi Chawla
Keywords
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