Twelve Brazilian families with X-linked Congenital Adrenal Hypoplasia: new rearrangements and new variants in the NR0B1 gene.

This study represents one of the largest Brazilian series of X-hypoAC. The present findings broaden the molecular landscape of NR0B1 variants and underscore the relevance of early genetic testing to differentiate X-hypoAC from congenital adrenal hyperplasia, optimize long-term clinical management, and provide accurate genetic counseling for affected families.