title: A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.
abstract: 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.
authors.affiliation: Department of Medicine, G.S.L. Medical College and General Hospital, Rajahmundry, Andhra Pradesh, India.
authors.forename: Sriharibabu
authors.initials: S
authors.lastname: Manne
authors.affiliation: Department of Medicine, G.S.L. Medical College and General Hospital, Rajahmundry, Andhra Pradesh, India.
authors.forename: C H
authors.initials: CH
authors.lastname: Veeraabhinav
authors.affiliation: Department of Medicine, G.S.L. Medical College and General Hospital, Rajahmundry, Andhra Pradesh, India.
authors.forename: Mounica
authors.initials: M
authors.lastname: Jetti
authors.affiliation: Department of Obstetrics and Gynecology, G.S.L. Medical College and General Hospital, Rajahmundry, Andhra Pradesh, India.
authors.forename: Yalamanchali
authors.initials: Y
authors.lastname: Himabindu
authors.affiliation: Department of Obstetrics and Gynecology, G.S.L. Medical College and General Hospital, Rajahmundry, Andhra Pradesh, India.
authors.forename: Kiranmai
authors.initials: K
authors.lastname: Donthu
authors.affiliation: Department of Radiology, G.S.L. Medical College and General Hospital, Rajahmundry, Andhra Pradesh, India.
authors.forename: Mutyalarayudu
authors.initials: M
authors.lastname: Badireddy
keywords: 46; Mayer-Rokitansky-Kuster-Hauser syndrome; XX gonadal dysgenesis; hypergonadotropic hypogonadism; primary amenorrhea