1. Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome
- Author
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Fai To Yau, Kam Hung Ma, and Siu Ngan Chow
- Subjects
Male ,endocrine system ,Pediatrics ,medicine.medical_specialty ,Corticotropin Deficiency ,Corticotropin-Releasing Hormone ,Endocrinology, Diabetes and Metabolism ,Water-Electrolyte Imbalance ,Hypoglycemia ,Fingers ,Endocrinology ,Adrenocorticotropic Hormone ,Seizures ,Internal medicine ,Intellectual Disability ,medicine ,Endocrinology diabetology ,Humans ,Abnormalities, Multiple ,Dermatoglyphics ,Child ,business.industry ,Adrenocorticotropin deficiency ,Syndrome ,medicine.disease ,Hormones ,Pediatrics, Perinatology and Child Health ,Cosyntropin ,business ,Hyponatremia ,Kabuki syndrome ,hormones, hormone substitutes, and hormone antagonists - 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.
- Published
- 2005