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J Pediatr. 2016 Sep;176:150-5. doi: 10.1016/j.jpeds.2016.05.065. Epub 2016 Jun 16.

Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts.

Author information

1
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: t.y.wong@umcg.nl.
2
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
3
Department of Endocrinology, The Children's Hospital at Westmead, Sydney, Australia.
4
Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, Australia.
5
Department of Pediatrics, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Abstract

OBJECTIVE:

To evaluate whether central adrenal insufficiency (CAI) is present in CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital hypoplasia, and Ear abnormalities, including deafness) syndrome, a complex malformation disorder that includes central endocrine dysfunction.

STUDY DESIGN:

Two cross-sectional studies were performed in Dutch (September 2013-February 2015) and Australian (January 2012-January 2014) CHARGE syndrome clinics. Twenty-seven Dutch and 19 Australian patients (aged 16 months-18 years) with genetically confirmed CHARGE syndrome were included. The low-dose adrenocorticotropin (ACTH) test was used to assess CAI in the Dutch cohort. A peak cortisol response less than 18.1 μg/dL (500 nmol/L) was suspected for CAI, and a glucagon stimulation test was performed for confirmation. Australian patients were screened by single measurements of ACTH and cortisol levels. If adrenal dysfunction was suspected, a standard-dose ACTH test was performed.

RESULTS:

The low-dose ACTH test was performed in 23 patients (median age 8.4 [1.9-16.9] years). Seven patients showed an insufficient maximum cortisol level (10.3-17.6 μg/dL, 285-485 nmol/L), but CAI was confirmed by glucagon stimulation test in only 1 patient (maximum cortisol level 15.0 μg/dL, 415 nmol/L). In the Australian cohort, 15 patients (median age 9.1 [1.3-17.8] years) were screened, and none had CAI.

CONCLUSIONS:

CAI was not common in our cohorts, and routine testing of adrenal function in children with CHARGE syndrome is not indicated.

KEYWORDS:

glucagon stimulation test; low-dose adrenocorticotropin test; mortality

PMID:
27321065
DOI:
10.1016/j.jpeds.2016.05.065
[Indexed for MEDLINE]

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