Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report

Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism .Mullerian agenesis or Mayer‑Rokitansky‑Kuster‑Hauser syndrome is characterized by congenital aplasia of the ute...

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Bibliographic Details
Published in:Journal of Nepal Medical Association 2019-03, Vol.57 (216), p.119-122
Main Authors: Jha, Santosh Kumar, Manandhar, Rosina, Shrivastava, Veena Rani
Format: Article
Language:English
Subjects:
Case Report
Gonadal dysgenesis
Mayer Rokitansky Kuster Hauser syndrome
Mullerian agenesis
primary amenorrhea
46,XX
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Summary:Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism .Mullerian agenesis or Mayer‑Rokitansky‑Kuster‑Hauser syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46 XX karyotype. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental. We report the case of a 24-year-old woman who presented with primary amenorrhea. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. Internal genitalia could not be identified on the pelvic ultrasound and pelvic MRI. There were no other morphological malformations.
ISSN:0028-2715
1815-672X
DOI:10.31729/jnma.4287