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 pseudohermaphroditism refers to genetically XY male with differentiated testes and varying degree of undermasculinization of the external genitalia. Aim. Our study aimed at exploring the clinical characteristics, cytogenetic and SRY gene analyses in a group of 14 pediatric patients with male pseudohermaphroditism. 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. Results. Cytogenetic analyses revealed a normal male karyotype in all patients. SRY gene was found positive in all 14 patients. Conclusion. We concluded that SRY gene analysis in patients with male pseudohermaphroditism confirms the clinical diagnosis and directs further investigations. SRY gene analysis is a quick and relatively simple diagnostic method that can be included at the early stage diagnostic of sex differentiation disorders.
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