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Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome.
- Source :
-
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2005 Jun; Vol. 18 (6), pp. 607-9. - Publication Year :
- 2005
-
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.
- Subjects :
- Abnormalities, Multiple genetics
Child
Corticotropin-Releasing Hormone
Cosyntropin
Dermatoglyphics
Fingers abnormalities
Hormones blood
Humans
Hypoglycemia complications
Hyponatremia complications
Intellectual Disability genetics
Male
Seizures complications
Syndrome
Water-Electrolyte Imbalance genetics
Water-Electrolyte Imbalance physiopathology
Abnormalities, Multiple physiopathology
Adrenocorticotropic Hormone deficiency
Intellectual Disability physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 0334-018X
- Volume :
- 18
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Journal of pediatric endocrinology & metabolism : JPEM
- Publication Type :
- Academic Journal
- Accession number :
- 16042330
- Full Text :
- https://doi.org/10.1515/jpem.2005.18.6.607