Urorectal Septum Malformation Sequence Associated with Mayer-Rokitansky-Küster-Hauser Syndrome and Ovarian Dysgenesis: An Autopsy Case Report

Authors:

Darouich S^1,2*, Boujelbène N^2,3, Mrad K_^2,3 and Masmoudi A^2,4

Volume 1, Issue 1

Abstract

Objectives: The urorectal septum malformation sequence (URSMS) results from failure of cloacal division by the urorectal septum. It may be associated with genital and gonadal malformations which are related to defects of the other mesodermal-derived structures, Müllerian ducts and genital crests. In this report, we aim to describe this malformative association not previously reported in the literature.

Case report: We report on a case of complete URSMS associated with Mayer-Rokitansky-Küster-Hauser syndrome and ovarian dysgenesis in a 46, XX newborn of 34 weeks’ gestation. The most striking findings included abnormal development of the bladder and the lower portion of the vagina forming a single bulky multilocular mass, and of the gonads with an undifferentiated gonad and an ovary displaying teratomatous changes.

Conclusion: The association of URSMS with Mayer-Rokitansky-Küster-Hauser syndrome and ovarian dysgenesis do not appear fortuitous regarding the csommon mesodermal origin of the involved structures. This report illustrates the extreme phenotype of defect in mesodermal-derived structures development.

Keywords:

Mayer-Rokitansky-Kuster-Hauser syndrome; Mesoderm; Ovary; Dysgenesis; Urorectal septum malformation sequence

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