Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome

Kam Hung Ma; Siu Ngan Chow; Fai To Yau

doi:10.1515/jpem.2005.18.6.607

Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome

J Pediatr Endocrinol Metab. 2005 Jun;18(6):607-9. doi: 10.1515/jpem.2005.18.6.607.

Authors

Kam Hung Ma¹, Siu Ngan Chow, Fai To Yau

Affiliation

¹ Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong SAR, China. [email protected]

PMID: 16042330
DOI: 10.1515/jpem.2005.18.6.607

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.

MeSH terms

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

Substances

Hormones
Cosyntropin
adrenocorticotropin zinc
Adrenocorticotropic Hormone
Corticotropin-Releasing Hormone