title: Choroideremia and hypopituitarism: an association.
abstract: Choroideremia is a rare X-linked, progressive, degenerative disease of the retina and choroid. We describe 2 patients, one a female, with choroideremia documented to have hypopituitarism and neurological abnormalities. We hypothesize that this previously undescribed association results from a degenerative process involving tissues of neural origin, or from contiguous submicroscopic gene deletions in the X chromosome region that define choroideremia and possibly hypopituitarism.
authors.affiliation: Division of Endocrinology, Children's Hospital Medical Center, Cincinnati.
authors.forename: R K
authors.initials: RK
authors.lastname: Menon
authors.forename: W S
authors.initials: WS
authors.lastname: Ball
authors.forename: M A
authors.initials: MA
authors.lastname: Sperling
mesh_terms: D000293:Adolescent; D002648:Child; D015794:Choroideremia / Q000150:complications / Q000235:genetics*; D002872:Chromosome Deletion; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007018:Hypopituitarism / Q000150:complications / Q000235:genetics*; D008297:Male; D014960:X Chromosome