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Case Reports
. 2010:2010:847370.
doi: 10.1155/2010/847370. Epub 2010 Dec 29.

Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report

N Bousfiha  1 , S Errarhay, H Saadi, K Ouldim, C Bouchikhi, A Banani
Affiliations
Case Reports

Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report

N Bousfiha et al. Obstet Gynecol Int. 2010.

Abstract

Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies. Case Report. We report the case of a 19-year-old woman who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. No chromosome Y was detected at the FISH analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic MRI. Laparoscopy was undertaken and revealed concomitant ovarian dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. There were no other morphological malformations. Conclusion. The pathogenesis of the association of gonadal dysgenesis and Mayer Rokitansky kuster hauser syndrome is still mysterious. The treatment is based essentially on hormone substitution therapy. The fertility prognosis is unfortunately compromised.

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Figures

Figure 1
Figure 1
Fluorescence in situ hybridization FISH: the chromosomes can be seen in blue LSI SRY: spectrum orange/CEP X: spectrum green. Presence of 2 green spots. No orange spot was detected.
Figure 2
Figure 2
Ultrasound exam: no uterus identified behind the bladder.
Figure 3
Figure 3
Magnetic resonance imaging (MRI): axial plane cut showing bladder and rectum without interposition of uterus.
Figure 4
Figure 4
MRI examination sagittal plane cut: absence of uterus and ovaries.
See this image and copyright information in PMC

References

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