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: Kam Hung Ma, Siu Ngan Chow, Fai To Yau
• Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 18 Issue 6 Pg. 607-9 (Jun 2005) ISSN: 0334-018X [Print] Germany
• PMID: 16042330 (Publication Type: Journal Article)

Chemical References

• Hormones
• Cosyntropin
• adrenocorticotropin zinc
• Adrenocorticotropic Hormone
• Corticotropin-Releasing Hormone

Topics

• Abnormalities, Multiple (genetics, physiopathology)
• Adrenocorticotropic Hormone (deficiency)
• Child
• Corticotropin-Releasing Hormone
• Cosyntropin
• Dermatoglyphics
• Fingers (abnormalities)
• Hormones (blood)
• Humans
• Hypoglycemia (complications)
• Hyponatremia (complications)
• Intellectual Disability (genetics, physiopathology)
• Male
• Seizures (complications)
• Syndrome
• Water-Electrolyte Imbalance (genetics, physiopathology)