title: Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature.
abstract: Mayer-Rokitansky-Kuster-Hauser (MRKH) is a characteristic syndrome in which the Mullerian structures are absent or rudimentary. It is also associated with anomalies of the genitourinary and skeletal systems. Its association with gonadal dysgenesis is extremely rare and appears to be fortuitous, independent of chromosomal anomalies. We report such a case in a 21-year-old girl who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46, XX. No chromosome Y was detected at the fluorescence in situ hybridization (FISH) analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic magnetic resonance imaging. Laparoscopy disclosed concomitant ovarian dysgenesis and MRKH syndrome. There were no other associated malformations. Hormonal substitution therapy with oral conjugated estrogens was begun. The patient has been under regular follow-up for the last two years and is doing well.
authors.affiliation: Department of Obstetrics and Gynecology, HediChaker Hospital, 3029 Sfax, Tunisia.
authors.forename: Sahbi
authors.initials: S
authors.lastname: Kebaili
authors.forename: Kais
authors.initials: K
authors.lastname: Chaabane
authors.forename: Mouna Feki
authors.initials: MF
authors.lastname: Mnif
authors.forename: Mahdi
authors.initials: M
authors.lastname: Kamoun
authors.forename: Faten Hadj
authors.initials: FH
authors.lastname: Kacem
authors.forename: Nouha
authors.initials: N
authors.lastname: Guesmi
authors.forename: Hichem
authors.initials: H
authors.lastname: Gassara
authors.forename: Abdallah
authors.initials: A
authors.lastname: Dammak
authors.forename: Doulira
authors.initials: D
authors.lastname: Louati
authors.forename: Habib
authors.initials: H
authors.lastname: Amouri
authors.forename: Mohamed
authors.initials: M
authors.lastname: Guermazi
keywords: Gonadal dysgenesis; Mayer-Rokitansky-Kuster-Hauser syndrome; karyotype