ESPE Abstracts (2021) 94 P1-3

Adrenal A

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

Mallory Farrar1, Wei He2, Salma R Ali3,4, Jillian Bryce4, Neil Lawrence5, Federico Baronio6, Hedi L. Claahsen-van der Grinten7, Walter Bonfig8, Nils Krone5, Chuck Yonan1 & S. Faisal Ahmed3,4,9


1Neurocrine Biosciences, Inc., San Diego, USA; 2IQVIA Inc., Plymouth Meeting, USA; 3Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, United Kingdom; 4Office for Rare Conditions, University of Glasgow, Glasgow, United Kingdom; 5Department of Oncology and Metabolism, The University of Sheffield Medical School, Sheffield, United Kingdom; 6Department Hospital of Woman and Child, Pediatric Unit, IRCSS AOU S.Orsola-Malpighi University Hospital, Bologna, Italy; 7Radboud University Nijmegen, Amalia Childrens Hospital, Department of Pediatric Endocrinology, Nijmegen, Netherlands; 8Department of Paediatrics, Technical University München, Munich, Germany; 9On behalf of the I-CAH Consortium, Glasgow, United Kingdom

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and elevated ACTH secretion, resulting in excess androgen production. This exposure to excess androgens contributes to advanced skeletal maturation and reduced growth in puberty. Data from the I-CAH registry were analyzed to identify growth-related characteristics of children and adolescents with classic CAH.

Methods: The I-CAH registry was queried on 02-April-2021 using the following criteria: CYP21A enzyme deficiency; male or female, age <18 years; and ≥1 growth-related assessment. Data from all patient visits were analyzed descriptively by sex and age (0-<2, 2-5, 6-9, 10-13, 14-17 years). Since I-CAH data are longitudinal, patients who aged during registry enrollment were included in >1 subgroup. Using WHO growth chart data as reference, standard deviation scores (SDS) were analyzed for height for chronological age (CA) and height for bone age (BA).

Results: Analyses included 431 patients (ages 0-17 years, female=57%, male=43%). The number of patients/visits, bone age, and growth characteristics (median SDS) by age are presented in the table. Height for CA indicated a trend for shorter height relative to age, with males 14-17 years having more pronounced height deficits than females. Mean BA was advanced by 7.2 months compared to CA (SD=36.6 months, 95% CI=-10.1 to -4.3 months [P < 0.0001]), which was less pronounced in females (4.2 months) than males (11.3 months).

Patients With Classic CAH by Age, Years
Median CA, overall (years)
Height for CA, #patients/visits431/4029332/1349314/1435136/59898/37177/276
Median SDS, overall-1.24-3.53-1.08-0.15-0.30-0.61
Median SDS, females-1.20-3.32-1.07-0.35-0.53-0.44
Median SDS, males-1.33-3.80-1.120.430.36-1.50
Median BA, overall (years)
Height for BA, #patients/visits197/59438/35144/23873/17458/11527/32
Median SDS, overall-0.502.210.28-1.25-0.94-0.71
Median SDS, females-0.402.910.24-1.14-0.750.01
Median SDS, males-0.552.210.42-1.83-1.29-0.97

Conclusions: This is the first study to examine growth-related characteristics using data from the entire I-CAH registry. Exploratory analyses of this dataset indicate that children/adolescents with classic CAH are shorter relative to CA even before 10 years of age, despite having an advanced BA, which further reduces their height potential and highlights the importance of proper glucocorticoid and disease management during pubertal growth.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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