Case Report A Unique Association of Clinical ‘‘Persistent Mu ¨llerian Duct Syndrome’’ and Syringoid Carcinoma of the Perineal-Scrotal Skin: A Consequence of Urologic Surgery? UMBERTO GOGLIA,*§ CARLO TONCINI,{§ MASSIMO GIUSTI,*§ CHRISTIAN GASTALDI,{ CARLO AMBRUOSI,{ SIMONA SOLA,{ JEAN-LOUIS RAVETTI,{ GIORGIO CARMIGNANI,{ FRANCESCO MINUTO,* AND DIEGO FERONE* From the *Department of Endocrinological and Medical Sciences and Center of Excellence for Biomedical Research, the ÀDepartment of Pathology, San Martino Hospital, Genova, Italy; and the `Department of Urology, University of Genova. Case Report Persistent mu ¨llerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism occurring in 46,XY males and is caused by a defect in either the gene for the mu ¨llerian-inhibiting substance (MIS) or its type 2 re- ceptor. Patients with this syndrome present with retained mu ¨llerian ducts and unilateral or bilateral undescended testes; they may also display crossed testicular ectopia caused by herniated uterine structures (MacLaughlin and Donahoe, 2004; Belville et al, 2004). Sexual ambiguity, PMDS particularly, is also present in other species, such as mixed-breed dogs and goats (Meyers-Wallen, 1993; Kuiper et al, 2004; Josso et al, 2005). In this article, we report the history of a 46-year-old man with a scrotal mass, diagnosed as syringoid eccrine carcinoma, presenting with PMDS, which was inciden- tally discovered by magnetic resonance imaging (MRI) performed for presurgery stadiation of the scrotal tumor. To our knowledge, this is the first case of an exceptional association between an unusual form of male pseudohermaphroditism and a rare cutaneous tumor in an unusual site, probably due to a previous reconstructive surgery for hypospadia. Patient. A 46-year-old man presented to our unit for endocrinologic evaluation of a sexual ambiguity documented by MRI that showed an upper vagina and a formed uterus. The MRI was performed for a presurgical tumoral stadiation of a cancer diagnosed 7 months before (Figure 1). A subsequent cystoscopy showed a feminine urethra and a small prostate as well. Patient history revealed several urologic operations for hypospadia and monolateral orchiectomy for an undescended testis. One year before admission to our unit, the patient observed a scrotal mass and underwent surgery for scrotectomy, during which the remaining left testis was inserted into the inguinal canal. Because the initial histologic picture was unclear, he was referred to the urology unit of our hospital with acute urinary retention. A urethroscopic exam revealed a protruding lesion infiltrating the urethral lumen. Presurgical MRI showed an upper vagina and a formed uterus; however, no tumor metastases were recorded (Figure 1). The lesion was indeed invasive, infiltrating the perineal region, and required a demolitive and reconstructive surgery of the perineal region. However, due to his well- defined male sexual behavior, the patient refused penectomy. Histology showed an eccrine tumor (Figure 2), con- sisting mainly of numerous tubular structures, small cords, and nests extending from the reticular dermis to the subcutaneous tissue (Figure 2A and B), which often form syringoma-like ducts. Periodic acid-Schiff–positive diastase-resistant material was observed in the lumina of the tubular structures (Figure 2C). Immunohistochem- ical analysis revealed diffuse positivity for carcinoem- This study was partially supported by grants from the Ministero dell’Universita ` e della Ricerca (2002067251-001) and the University of Genova. Correspondence to: Dr Diego Ferone, Dipartimento di Scienze Endocrinologiche e Mediche, Universita ` di Genova, Viale Benedetto XV, 6, 16132 Genova, Italy (e-mail: ferone@unige.it). Received for publication April 23, 2007; accepted for publication August 15, 2007. DOI: 10.2164/jandrol.107.003053 § These authors have contributed equally to this work. Journal of Andrology, Vol. 29, No. 1, January/February 2008 Copyright E American Society of Andrology 15