Authors
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Mathur Neha Satyaprakash*, Suyasha Vyas
Abstract
Introduction:
Gonadal dysgenesis 46 XX along with Mayer-Rokitansky-Kuster-Hauser syndrome is a very rare coexistence. Due to the rarity of disease exact genetic cause cannot be hypothesized.
Case report:
This is a case of 30 year old lady with primary amenorrhea. She had SSC of Tanner stage II, blind vagina, absent uterus and streak gonads on USG. Her hormone levels were in postmenopausal range. Her karyotype was 46 XX.
Discussion:
The coexistence of these two rare syndromes presents as amenorrhea and infertility. The treatment options are limited, with hormone replacement to prevent osteoporosis and development of SSC.