Newborn screening follow-up in Bavaria: height and weight in paediatric patients with congenital adrenal hyperplasia.

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.