ESPE Abstracts

Background: Data on anthropometric outcomes in patients with non-classical 21-hydroxylase deficiency (NCCAH) are sparse.

Objective: To investigate long-term effects of NCCAH on height and weight.

Method: A retrospective, cross-sectional study of 105 girls with NCCAH aged 8.4±4.1 years (0.4–18), mean follow-up 11.4±7.5 years. Outcome measures were height, weight and BMI, expressed as standard deviation score (SDS), at diagnosis compared to last visit and also to those of their mothers, fathers and siblings. Patients were stratified by pubertal stage at diagnosis: prepubertal, pubertal (Tanner 2–4) and fully pubertal.

Results: Median daily hydrocortisone dose was 10.0 mg/m² (3.5–27). At diagnosis, height-, weight- and BMI-SDS were similar to those of parents and siblings; bone age to chronological age ratio was 1.2±0.2. Height-SDS at last visit was significantly lower than that at diagnosis (−1.7±1.4 vs −0.2±1.3, P<0.001) and lower than that of mothers (P<0.001), fathers (P<0.001) and siblings (P<0.002). Patients fully pubertal at diagnosis were significantly shorter than prepubertal (P<0.001) and pubertal patients (P<0.001), and at last visit shorter than prepubertal patients (P<0.005). A significant association was found between lower height-SDS at last visit and longer treatment duration (r=−0.46, P<0.001) but not with hydrocortisone dose (r=−0.22, P=0.07). Current weight-SDS slightly decreased compared to baseline (0.1±1.4 vs −0.5±1.4, P<.001), while BMI-SDS was similar to baseline (0.3±1.3 vs 0.5±1.1, P=0.09). Most recent weight- and BMI-SDS were significantly lower than parental weight- and BMI-SDS. Age at menarche was earlier in affected girls than in their mothers (12.3±1.3 vs 12.7±1.2 years, P<0.05).

Conclusion: NCCAH diagnosed in childhood is associated with compromised height. Older age at diagnosis, earlier menarche, and longer steroid treatment duration may be risk factors. It is encouraging to see that BMI-SDS did not increase over time, despite hydrocortisone treatment.