Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Deletions of the DAX-1 gene in patients and adrenal hypoplasia congenita (AHC) and analysis of point mutations in the coding region in DNA of the patients confirm that the DAX-1 gene causes X-linked AHC and the related hypogonadotropic hypogonadism (HHG). The DAX-1 gene has different point mutations and exhibits genetic heterogeneity or differential expression. This gene is characterized by a small size and a two exon structure.