Disorder of sexual development is characterized with phenotypic-genotypic incompatibility and most of the cases result from the failure of steroid biosynthesis pathway. In this article genetic analysis results of 66 cases who were admitted to our department with disorders of sexual development diagnosed with clinical, laboratory and radiological findings since 2000 are presented. Of all the cases, 10 (15.15%), 15 (22.72%) and 41 (62.12%) presented in the newborn, childhood and adult periods, respectively. Educational and economical status of the families of the cases presenting in the neonatal period were better than those of the cases presenting in adult period. Approximately one third of families with disorders of sexual development had consanguineous marriages. In this selected series of 66 cases, 16 cases (24.24%), 5 cases (13.20%), 2 cases (3.03%) and 43 cases (65.15%) had female pseudohermaphroditism, male pseudohermaphroditism, true hermaphroditism and gonadal dysgenesis, respectively. SRY gene region on Y chromosome was positive in all of the cases with male phenotype consistent ultrasonographically whereas it was negative in all of the cases with female phenotype consistent ultrasonographically. Disorders of sexual development are a medical and social problem, and early diagnosis depends on the education of the whole population. The diagnosis of disorders of sexual development is only possible through the establishment of phenotypic and genotypic association.
Keywords: Disorders of sexual development, chromosome, ambiguous genitalia, mixed gonadal dysgenesis, SRY
