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 a case of a 24-years old woman who presented with primary amenorrhea. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46,XX. 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.
Highlights
Gonadal dysgenesis may arise from early defect in primordial follicle formation or defect in differentiation of the ovary.[4]
Abnormalities of the genital tract may range from upper vaginal atresia to complete mullerian agenesis and may be associated urinary tract and/or skeletal abnormalities.[4]
It has been hypothesized to be due to abnormal activation of anti-mullerian hormone (AMH) expression or AMH receptor signaling in the female fetus, but no mutation in either AMH or AMH R have been reported.[4]
Summary
Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46,XX Karyotype: A Case Report. Santosh Kumar Jha,[1] Rosina Manandhar,[1] Veena Rani Shrivastava1 1Department of Obstetrics and Gynaecology, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal
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