Growth-Related Characteristics of Patients <18 Years of Age with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (21OHD): Real World Evidence from the I-CAH Registry

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare, autosomal recessive disease of the adrenal cortex leading to a lack of cortisol production and compensatory ACTH secretion, which drives excess androgen production. The chronic exposure to excess and...

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Bibliographic Details
Published in:Journal of the Endocrine Society 2021-05, Vol.5 (Supplement_1), p.A715-A716
Main Authors: Farrar, Mallory, Ali, Salma Rashid, Bryce, Jillian, Baronio, Federico, Claahsen-van der Grinten, Hedi L, Bonfig, Walter, Yonan, Charles, Farber, Robert, Chan, Jean Lin, Ahmed, S Faisal
Format: Article
Language:English
Subjects:
Pediatric Endocrinology
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Summary:Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare, autosomal recessive disease of the adrenal cortex leading to a lack of cortisol production and compensatory ACTH secretion, which drives excess androgen production. The chronic exposure to excess androgen, coupled with supraphysiologic glucocorticoid doses, can lead to advanced skeletal maturation with reduced growth in puberty, premature epiphyseal closure, and shorter final adult height. The I-CAH Registry, launched in 2007, currently has >1500 cases of CAH from 26 countries. Aim of the current study was to identify growth-related characteristics of children and adolescents with 21OHD CAH registered in the I-CAH registry and who were based in Europe. Methods: The I-CAH registry was queried on 8-Oct-2019 using the following criteria: CYP21A enzyme deficiency; European site, male or female, age
ISSN:2472-1972
2472-1972
DOI:10.1210/jendso/bvab048.1457