Publication: Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report
Date
2019
Article Type
Case Report
Journal Title
Journal ISSN
JNMA Print ISSN: 0028-2715; Online ISSN: 1815-672X
Volume Title
Pages
Pages: 119 - 122
Publisher
Nepal Medical Association
Abstract
Abstract
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.
Keywords: Gonadal dysgenesis; Mayer Rokitansky Kuster Hauser syndrome; Mullerian agenesis; primary amenorrhea; 46,XX.
Description
Santosh Kumar Jha
Department of Obstetrics and Gynecology, Kathmandu Medical College, Sinamangal, Kathmandu, Nepal
Rosina Manandhar
Department of Obstetrics and Gynaecology, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal
Veena Rani Shrivastava
Department of Obstetrics and Gynaecology, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal
Keywords
Gonadal dysgenesis, Mayer Rokitansky Kuster Hauser syndrome, Mullerian agenesis, primary amenorrhea, 46, XX
Identifier
https://doi.org/10.31729/jnma.4287