Open AccessA rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome
Author(s) -
M Sriharibabu,
C H Veeraabhinav,
Mounica Jetti,
Y Himabindu,
Kiranmai Donthu,
Mutyalarayudu Badireddy
Publication year - 2016
Publication title -
journal of human reproductive sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.484
H-Index - 31
eISSN - 0974-1208
pISSN - 1998-4766
DOI - 10.4103/0974-1208.197694
Subject(s) - mayer rokitansky kuster hauser syndrome , gonadal dysgenesis , aplasia , primary amenorrhea , agenesis , secondary sex characteristic , dysgenesis , vagina , uterus , medicine , gynecology , delayed puberty , karyotype , mullerian ducts , anatomy , biology , endocrinology , genetics , hormone , chromosome , gene
46,XX 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 (MRKH) 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 phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation. The coexistence of both these disorders is extremely rare. Here, we report a case of 46,XX gonadal dysgenesis and MRKH syndrome with anatomically dispersed congenital anomalies unique among reported cases.