A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic

A 12-year-old boy from the Dominican Republic, initially misdiagnosed with congenital adrenal hyperplasia (CAH), was found to have a novel, dominant, heterozygous mutation in the NR5A1 gene, leading to a 46, XY disorder of sex development (DSD) without adrenal insufficiency. Despite poor compliance with CAH treatment and no history of adrenal crisis, the boy presented with fatigue and abdominal pain but had normal vital signs and electrolyte levels. Physical examination revealed ambiguous genitalia, underdeveloped scrotum, and severe penoscrotal hypospadias. Hormonal studies ruled out CAH, and chromosomal analysis confirmed a 46, XY karyotype. After a six-month course of testosterone and surgical interventions, the boy's genitalia developed further, and a DNA panel sequencing identified the pathogenic NR5A1 gene variant. This case highlights the importance of thorough evaluation and molecular genetic screening in patients with 46, XY DSDs.