Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome.
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.
Ma
Kam Hung
KH
Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong SAR, China. ma_kam_hung@hotmail.com
Chow
Siu Ngan
SN
Yau
Fai To
FT
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
D006728:Hormones; D003366:Cosyntropin; C006418:adrenocorticotropin zinc; D000324:Adrenocorticotropic Hormone; D003346:Corticotropin-Releasing Hormone