Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 CohortsWong, M. T. Y., van Ravenswaaij-Arts, C. M. A., Munns, C. F., Hsu, P., Mehr, S. & Bocca, G., Sep-2016, In : The Journal of Pediatrics. 176, p. 150-155 6 p.
Research output: Contribution to journal › Article › Academic › peer-review
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 mg/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 mg/dL, 285-485 nmol/L), but CAI was confirmed by glucagon stimulation test in only 1 patient (maximumcortisol level 15.0 mg/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.
|Number of pages||6|
|Journal||The Journal of Pediatrics|
|Publication status||Published - Sep-2016|
- GLUCAGON STIMULATION TESTS, GROWTH-HORMONE, SECONDARY HYPOADRENALISM, OVERNIGHT METYRAPONE, CORTISOL RESPONSES, CLEFT CYST, CHD7 GENE, CHILDREN, ASSOCIATION, ACTH