Abstract
OBJECTIVE: The presence of ambiguous genitalia is one of the presentations of disorders of sex development. It is estimated that its incidence is approximately one in 4,500-5,500 live births. The investigation and diagnosis of genital ambiguity constitute a clinical emergency due to the importance of early detection of conditions that can put the childs life at risk, such as congenital adrenal hyperplasia and malformative syndromes. METHODS: A cross-sectional observation study was carried out based on the analysis of 56 medical records of individuals referred to the Pediatric Endocrinology Sector of a public university hospital. RESULTS: The most frequent diagnosis was congenital adrenal hyperplasia in 11 cases (19.5%), followed by partial androgenic insensitivity in eight cases (14.2%), Klinefelter syndrome (five cases) and mixed gonadal dysgenesis (four cases). The average age of presentation to the service was 55 months. Family history, gestational history, gonad characteristic and treatment were also analyzed. CONCLUSION: Identifying and managing children and adolescents with genital ambiguity must be carefully conducted by a multidisciplinary team with experience in this type of approach. The repercussions of late diagnosis or inadequate management of the case are not possible to measure, but they have an impact on the way the patient relates to himself and to the society around him.