Medullary Sponge Kidney and Testicular Dysgenesis Syndrome: A Rare Association. (18th February 2014)

• Record Type: Journal Article
• Authors: Masciovecchio, Stefano; Saldutto, Pietro; Paradiso Galatioto, Giuseppe; Vicentini, Carlo
• Other Names: González-Peramato P. Academic Editor.; Marte A. Academic Editor.
• Is Part Of: Case reports in urology. Volume 2014(2014)
• Publication Date: 2014-02-18
• Subjects: Urology -- Periodicals; Urology -- Case studies -- Periodicals; Genitourinary organs -- Diseases -- Periodicals; Urologic Diseases; Genitourinary organs -- Diseases; Urology; Periodicals; Case studies; Periodicals; 616.6005
• DOI: 10.1155/2014/841781
• Languages: English
• ISSNs: 2090-696X

Abstract

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.