Abstract
Abstract Objectives Auxology is essential for monitoring Congenital Adrenal Hyperplasia (CAH). Data from prospective studies of Newborn Screening (NBS) are scarce. Methods Analysis of data extracted from a population-based prospective long-term follow-up survey study of children detected through NBS in Bavaria in 1999–2018. The study is based on standardized parent or patient questionnaires, supplemented by medical reports. Height, weight, and treatment data of 146 children/adolescents with classical CAH were analyzed. The entire observation period up to the age of 18 years was completed by 55 patients. Standard Deviation Scores (SDS) for height/Body-Mass-Index (BMI) at different ages and the deviation of the height SDS at age 18 years from the parental target-height SDS were calculated. Results Male and female patients with CAH showed different and altered growth patterns, resulting in a median [IQR] SDS deviation from target height of −0.81 [−1.05, −0.41] in males and −0.35 [−0.90, 0.02] in females. BMI-SDS values were significantly (p<0.05) increased in males aged 6–16 years and in females aged 2 and 8–12 years. The average total steroid dose was higher in males (p<0.001). For deviations from target height, significant associations were found with sex (p<0.05) and adherence (p<0.01), but not with mutation group or steroid-dose. For BMI, none of the parameters showed a significant correlation. Conclusions Early treatment after NBS has helped to improve, but not to normalize, the development of height and weight in patients with CAH. Optimizing monitoring and treatment, preferably sex-specific, remains a challenge for clinical practice and research.
Published Version
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