title: CHARGE association and secondary hypoadrenalism.
abstract: Hypogonadotrophic hypogonadism is a well-described part of the CHARGE association. It has been suggested that more extensive defects of the pituitary function may occur, but this has not been reported in the medical literature. We report a patient with CHARGE association who, in addition to the cardinal manifestations, was found to have hypoadrenalism of pituitary/hypothalamic origin. The patient also has findings typical of the overlap of CHARGE and the 22q11 deletion syndrome, as well as an unusual cervical vertebral abnormality.
authors.affiliation: Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand.
authors.forename: Paul A
authors.initials: PA
authors.lastname: James
authors.forename: Salim
authors.initials: S
authors.lastname: Aftimos
authors.forename: Paul
authors.initials: P
authors.lastname: Hofman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000309:Adrenal Insufficiency / Q000378:metabolism / Q000473:pathology*; D002754:Choanal Atresia / Q000473:pathology*; D003103:Coloboma / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology; D005832:Genital Diseases, Male / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome
chemical_list: D006854:Hydrocortisone