Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome - 05/07/15

Doi : 10.1016/j.jpag.2014.07.019

Katharina Rall, MD ^1,^⁎ , Simone Eisenbeis, PhD ¹, Verena Henninger, MD ¹, Melanie Henes, MD ¹, Diethelm Wallwiener, MD ¹, Michael Bonin, PhD ², Sara Brucker, MD ¹
¹ University Hospital Tuebingen, Department of Obstetrics and Gynecology, Tuebingen, Germany
² University Hospital Tuebingen, Department of Medical Genetics, Microarray Facility, Tuebingen, Germany

^∗Address correspondence to: Dr Katharina Rall, MD, Department of Obstetrics and Gynecology, University Center for Rare Female Genital Malformations, University Hospital Tuebingen, Calwerstrasse 7, 72076 Tuebingen, Germany; Phone: +49-7071-2980791; fax: +49-7071-294663

En prensa. Pruebas corregidas por el autor. Disponible en línea desde el Sunday 05 July 2015

Abstract

Study Objective

The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is characterized by vaginal and uterine aplasia in a 46,XX individual. Multiple abnormalities may be associated with MRKH syndrome, and it appears to overlap other syndromes. The aim of this study was to describe the spectrum of associated malformations and syndromes as well as abnormal karyotypic findings in a large cohort of 346 patients.

Design, Setting, and Participants

The study is a retrospective analysis of 346 MRKH patients treated in the University Hospital in Tuebingen between 1998 and 2013.

Main Outcome Measures

The dataset was screened for typical associated malformations as well as atypical malformations and abnormal karyotypes. A complete review of the literature was included.

Results

Among our cohort of 346 patients, we found that 53.2% had MRKH type 1, 41.3% had MRKH type 2, and 5.5% had MURCS syndrome. The group with associated malformations included 57.6% renal, 44.4% skeletal, and 30.8% other malformations. Additionally, we found 2 cases of absent radius syndrome, 3 cases of anal atresia, and 1 patient with oculodentodigital dysplasia, and other atypical malformations. Abnormal karyotypes were found in 5 cases, and 39 siblings and 11 parents had known malformations.

Conclusions

This study supports the hypothesis that the syndrome has a multifactorial pathogenesis. With the high numbers of associated malformations reported in this study, patients with MRKH syndrome should be regarded as having a complex syndrome. Molecular–genetic analyses in larger numbers of children after surrogacy, twin pregnancies, and familial cases may make it possible to obtain further information about the etiology of the syndrome.

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Key Words : MRKH syndrome, Uterovaginal aplasia, Associated malformations, Associated syndromes, Abnormal karyotype, Klippel-Feil syndrome, VACTERL association, DiGeorge syndrome

Esquema

Typical Associated Malformations

Malformations in Siblings and Parents

Atypical Associated Malformations and Combined Syndromes

Abnormal Karyotypes

Discussion

Typical Associated Malformations

Atypical Associated Malformations and Combined Syndromes

Abnormal Karyotypes

Conclusion

	The authors indicate no conflicts of interest.
	The authors thank all patients who participated in this study. Dr Rall was the recipient of a temporary research fellowship within the PATE, fortüne and TÜFF programs (Nos. 1835-0-0, 2047-0-0, and 2159-0-0) of the University of Tuebingen. The authors acknowledge support by the Open Access Publishing Fund of the University of Tuebingen.