Contiguous gene syndrome involving DAX 1 and IL 1 RAPL resulting in adrenal hypoplasia congenita with mental retardation in male child : a case report

A 17-year-old Han male child in China was reported with adrenal hypoplasia congenita and hypogonadotropic hypogonadism associated with mental retardation (intelligence quotient <55). The male child did not present ant history of severe cerebral injury caused by the adrenal crisis. Moreover, the brain magnetic resonance imaging (MRI) showed a normal blood supply to the brain. Biochemical indexes and genes in the blood of the subject were analyzed. The patient harbored mutations with a complete deletion of DAX1 and IL1RAPL genes on the X chromosome. The results demonstrated that this male child did not suffer from mental retardation caused by cerebral injury, and it also alerts us that intelligence-related gene examination should be performed to investigate the mental retardation in patients with adrenal dysplasia without a history of cerebral injury.