Clinical Features and Diagnostic Approach in Patients with Undervirilised External Male Genitalia.docVIP

Papazovska-Cherepnalkovski Kocova. Undervirilised External Male Genitalia Macedonian Journal of Medical Sciences. 2009 Sep 15; 2(3):217-222. doi:10.3889/MJMS.1857-5773.2009.0056 Clinical Science OPEN2ACCESS Clinical Features and Diagnostic Approach in Patients with Undervirilised External Male Genitalia Anet Papazovska-Cherepnalkovski and Mirjana Kocova 1 2 1 2 Department of Neonatology, University Pediatric Clinic, Medical Faculty, Skopje, Republic of Macedonia; Department of Endocrinology and Genetics, University Pediatric Clinic, Medical Faculty, Skopje, Republic of Macedonia Abstract Background. Sex development in humans is a complex and multiple step process. SRY gene on Y chromosome has met the criteria for a testis determining factor, however subsequent stages of differentiation require the expression of several other genes. Male pseudohermaph- roditism refers to genetically XY male with differentiated testes and varying degree of undermasculinization of the external genitalia. Key words: Malepseudohermaphroditism;Clinicalfea- tures; Karyotype; SRY gene. Correspondence: Mirjana Kocova, MD, PhD Department of Endocrinology and Genet- ics, University Pediatric Clinic Vodnjanska 17 Aim. Our study aimed at exploring the clinical characteristics, cytogenetic and SRY gene analyses in a group of 14 pediatric patients with male pseudohermaphroditism. 1000 Skopje, Republic of Macedonia Tel. +389 2 3147 474 / +389 70 242 694 Fax. + 389 2 3129 027 Material and Methods. Clinical presentations were: micropenis and/or penoscrotal/perineal hypospadia in 86%, altered appearance of the scrotum in 79% and Mullerian duct remnants in 50% of the patients. E-mail: mirjanakocova@ Results.Cytogeneticanalysesrevealedanormalmalekaryotypeinallpatients. SRYgenewas found positive in all 14 patients. Received: 02-Jun-2009 Revised: 20-Jul-2009 Accepted: 21-Jul-2009 Online first: 24-Jul-2009 Conclusion. W