%0 Journal Article
%T Medullary Sponge Kidney and Testicular Dysgenesis Syndrome: A Rare Association
%A Stefano Masciovecchio
%A Pietro Saldutto
%A Giuseppe Paradiso Galatioto
%A Carlo Vicentini
%J Case Reports in Urology
%D 2014
%I Hindawi Publishing Corporation
%R 10.1155/2014/841781
%X 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. 1. Introduction The medullary sponge kidney (MSK), also known as Lenarduzzi¡¯s kidney or Cacchi and Ricci¡¯s disease from the first Italian authors who described its main features [1], is an uncommon renal malformation that usually occurs with nephrocalcinosis and urolithiasis. Less frequently urinary acidification, concentration defects of the urine, and precalyceal duct ectasias can be observed. MSK is generally considered to be a congenital disorder even if there is no clear scientific evidence demonstrating the unique congenital nature of the disease. The condition can be associated with other renal and/or extrarenal developmental abnormalities that characterize, in some cases, specific complex genetic syndromes [2]. 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. We report the case of MSK associated with testicular dysgenesis syndrome (TDS). 2. Case Report We observe a 67-year-old man for severe LUTS (IPSS questionnaire score of 23). The patient¡¯s medical history reveals right orchidopexy (in childhood) for cryptorchidism with simultaneous contralateral simple orchiectomy performed for unknown reasons, a history of recurrent renal colic (from at least 50 years) always treated with automedication, and infertility. Physical uroandrologic examination shows the presence of glandular hypospadias with slightly painful anterior urethra, normal right didymus and epididymis, and, in accordance with medical history, uninhabited left hemiscrotum. The digital rectal exam shows a prostate volume slightly increased with characters related to adenomatous growth.
%U http://www.hindawi.com/journals/criu/2014/841781/