title: Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome.
abstract: A 6 year-old Chinese boy with Kabuki syndrome presented with hypoglycemic seizure. He was diagnosed to have isolated adrenocorticotropin deficiency. To our knowledge, this is the first case of Kabuki syndrome with isolated adrenocorticotropin deficiency in the literature.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong SAR, China. ma_kam_hung@hotmail.com
authors.forename: Kam Hung
authors.initials: KH
authors.lastname: Ma
authors.forename: Siu Ngan
authors.initials: SN
authors.lastname: Chow
authors.forename: Fai To
authors.initials: FT
authors.lastname: Yau
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D000324:Adrenocorticotropic Hormone / Q000172:deficiency*; D002648:Child; D003346:Corticotropin-Releasing Hormone; D003366:Cosyntropin; D003878:Dermatoglyphics; D005385:Fingers / Q000002:abnormalities; D006728:Hormones / Q000097:blood; D006801:Humans; D007003:Hypoglycemia / Q000150:complications; D007010:Hyponatremia / Q000150:complications; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D012640:Seizures / Q000150:complications; D013577:Syndrome; D014883:Water-Electrolyte Imbalance / Q000235:genetics / Q000503:physiopathology
chemical_list: D006728:Hormones; D003366:Cosyntropin; C006418:adrenocorticotropin zinc; D000324:Adrenocorticotropic Hormone; D003346:Corticotropin-Releasing Hormone