CHARGE association and secondary hypoadrenalism.
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.
James
Paul A
PA
Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand.
Aftimos
Salim
S
Hofman
Paul
P
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
D006854:Hydrocortisone