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Case Reports in Urology
Volume 2014, Article ID 841781, 3 pages
http://dx.doi.org/10.1155/2014/841781
Case Report

Medullary Sponge Kidney and Testicular Dysgenesis Syndrome: A Rare Association

Department of Life, Health & Environmental Sciences, University of L’Aquila, “Giuseppe Mazzini” General Hospital, Teramo, Italy

Received 23 December 2013; Accepted 16 January 2014; Published 18 February 2014

Academic Editors: P. González-Peramato and A. Marte

Copyright © 2014 Stefano Masciovecchio et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

The medullary sponge kidney is also known as Lenarduzzi’s kidney or Cacchi and Ricci’s disease from the first Italian authors who described its main features. A review of the scientific literature underlines particular rarity of the association of MSK with developmental abnormalities of the lower urinary tract and genital tract such as hypospadias and bilateral cryptorchidism. The work presented is the only one in the scientific literature that shows the association between the medullary sponge kidney and the testicular dysgenesis syndrome. A question still remains unanswered: are the MSK and TDS completely independent malformation syndromes occurring, in this case, simultaneously for a rare event or are they different phenotypic expressions of a common malformative mechanism? In the future we hope that these questions will be clarified.