Jha Santosh Kumar, Manandhar Rosina, Shrivastava Veena Rani
Department of Obstetrics and Gynecology, Kathmandu Medical College, Sinamangal, Kathmandu, Nepal.
Department of Obstetrics and Gynaecology, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
JNMA J Nepal Med Assoc. 2019 Mar-Apr;57(216):119-122. doi: 10.31729/jnma.4287.
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.
性腺发育不全是一种罕见的遗传性异质性疾病，其特征为卵巢发育不全，继而出现青春期发育延迟、原发性闭经和高促性腺激素性性腺功能减退。苗勒氏管发育不全或梅耶-罗基坦斯基-库斯特-豪泽综合征的特征是，女性的子宫和阴道上2/3先天性发育不全，而其第二性征发育正常且核型为正常的46,XX。性腺发育不全与梅耶-罗基坦斯基-库斯特-豪泽综合征的关联非常罕见，似乎是巧合。我们报告一例24岁原发性闭经女性病例。内分泌学检查显示为高促性腺激素性性腺功能减退。核型正常，为46,XX。盆腔超声和盆腔MRI均未发现内生殖器。无其他形态学畸形。关键词：性腺发育不全；梅耶-罗基坦斯基-库斯特-豪泽综合征；苗勒氏管发育不全；原发性闭经；46,XX
