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Case Reports
. 2013 May;17(3):505-8.
doi: 10.4103/2230-8210.111663.

Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature

Sahbi Kebaili  1 , Kais Chaabane, Mouna Feki Mnif, Mahdi Kamoun, Faten Hadj Kacem, Nouha Guesmi, Hichem Gassara, Abdallah Dammak, Doulira Louati, Habib Amouri, Mohamed Guermazi
Affiliations
Case Reports

Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature

Sahbi Kebaili et al. Indian J Endocrinol Metab. 2013 May.

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.

Keywords: Gonadal dysgenesis; Mayer-Rokitansky-Kuster-Hauser syndrome; karyotype.

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Conflict of interest statement

Conflict of Interest: None declared

Figures

Figure 1
Figure 1
Magnetic resonance imaging: Axial plane cut showing bladder and rectum without interposition of uterus
Figure 2
Figure 2
Magnetic resonance imaging examination sagittal plane cut showing absence of uterus and ovaries
Figure 3
Figure 3
Laparoscopic view showing absence of gonads, fallopian tubes, and uterus
See this image and copyright information in PMC

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