Co-occurrence of X-linked congenital adrenal hypoplasia and autistic disorder.

摘要

One form of congenital adrenal hypoplasia is associated with the Xp21 chromosomal region. These patients have clinical abnormalities including mental retardation, hearing loss, hypogonadism, glycerol kinase deficiency, ornithine transcarbamoylase deficiency, and Duchenne muscular dystrophy. This letter presents a case of a patient with X-linked congenital adrenal hypoplasia whose mental status as a preadolescent male was also consistent with the diagnosis of autistic disorder.