Sexual development disorder 46,XY due to 5 alpha reductase deficiency Analysis of a clinical case and updated review.

Abstract

Introduction: Disorders of sex development (DSD) are a group of congenital conditions characterized by a discrepancy between chromosomal, gonadal, and phenotypic sexes. This study aims to describe a clinical case of genital ambiguity in adulthood associated with a 5-alpha-reductase deficiency and to contextualize its approach from an updated clinical, diagnostic, and psychosocial perspective.

Case reporter: We describe a case of a patient raised as a woman, with a history of primary amenorrhea, who was diagnosed in late adolescence with male pseudohermaphroditism due to 5-alpha-reductase deficiency. A review of the recent literature on this DSD is conducted.

Diagnostic workshop: The patient presented clinical symptoms of genital ambiguity, karyotype 46 XY, and hormonal studies compatible with a 5α-reductase deficiency. The diagnosis was confirmed, and the multidisciplinary approach aimed at sexual reassignment and surgical correction was initiated.

Conclusion: 5α-reductase deficiency is a rare but well-characterized cause of male pseudohermaphroditism. Early diagnosis and a comprehensive approach are essential for the patient's well-being, avoiding premature interventions and favoring autonomy in decision-making about their body and identity.