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Case Report

A Case of Gonadal Dysgenesis 46 XX Associated with Mayer- Rokitansky-Kuster-Hauser Syndrome: A Rare Co-Existence

Pratibha Singh* , Pratibha Singh* , Mathur Neha Satyaprakash** , Suyasha Vyas** , Kuldeep Singh****

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Indian Journal of Obstetrics and Gynecology 3(2):p 117-120, July - December 2015. | DOI: DOI: https://dx.doi.org/10.21088/ijog.2321.1636.3215.13

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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 poorly developed secondary sexual characters with breast development 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: MRKH syndrome and Gonadal dysgenesis both presents as amenorrhea and infertility. The co-existing of these together is a rarity. The treatment options are limited, with hormone replacement to prevent osteoporosis and development of secondary sexual characters, but infertility remains an answered question in these patients.

Keywords: Gonadal dysgenesis; Mayer-Rokitansky-Kuster-Hauser syndrome; hypogonadism; Primary amenorrhea. 

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DOI: DOI: https://dx.doi.org/10.21088/ijog.2321.1636.3215.13

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