Clinical Profile of 46,XX Patients with Genital Ambiguity and DSD Diagnosis: A Retrospective Study from a Public University Hospital

Abstract

Genital ambiguity is a phenotype of Disorders of Sex Development (DSD) with an incidence of 1:4500. This diagnosis constitutes a clinical and social emergency, requiring investigation to detect serious etiologies and gender determination. Objective: Describe the profile of patients with a karyotype of 46,XX, genital ambiguity and DSD diagnosis. Method: Retrospective cross-sectional study analyzing 17 medical records. Results: The most frequent diagnosis was Congenital Adrenal Hyperplasia (CAH) in 11 cases (64.7%), followed by ovotesticular DSD in 4 cases (23.5%). Neonatal diagnosis was achieved in 8 cases (47%). The average age at the first consultation was 55 months. There was discordance between social and genetic gender in 2 cases (11.7%). Family history was positive in 5 cases (29.4%). External genitalia, assessed on the Prader scale, ranged from 3 to 5 in 15 cases (88.2%). Surgical intervention was performed in 10 cases (58.8%). Conclusion: CAH, the most common etiology, aligns with existing literature and should be the primary consideration for 46,XX with genital ambiguity. Neonatal diagnosis enables early management; however, delayed presentation to specialized services may lead to morbidity, mortality, and hinder the investigation and determination of gender. Discrepancies between social and genetic gender underscore the importance of a multidisciplinary assessment to prevent premature designations. The high degree of virilization justifies the number of surgeries, although the controversy persists regarding early definitive procedures. Repercussions of late diagnosis and improper management impact the individuals’ relationship with themselves and society.