Adult height of subjects with nonclassical 21-hydroxylase deficiency

Aim To determine whether nonclassical 21-hydroxylase deficiency (NC21OHD) compromises adult height (AH), and to establish the clinical parameters affecting AH in subjects with NC21OHD. Methods This is a multicenter, retrospective review of medical records for clinical and biochemical parameters. The corrected height (CH) standard deviation score (SDS), defined as AH SDS minus mean parental height (MPH) SDS, was calculated for each patient, where MPH SDS is the average of the father's height SDS and the mother's height SDS. Results The study group consisted of 122 NC21OHD subjects whose median age at diagnosis was 8.7years (range, 0.136). Seventy-two patients had two mild mutations, 22 had one mild and one severe mutation, 10 were heterozygous for one mild mutation, and 18 did not undergo molecular analysis. The CH SDS of the 66 patients who initiated hydrocortisone treatment during childhood was significantly lower than those who presented after achieving AH (p=0.03). However, there was a negative correlation between age at diagnosis and AH SDS in the former group (R=0.7, p=0.03). Being heterozygous for one mild and one severe mutation (R=0.7, p<0.02) and age at diagnosis (R=0.7, p=0.03) were negatively associated with CH SDS. The CH SDS was significantly lower in those who had bone age advancement at diagnosis compared to those who did not (p=0.04). Conclusion The main determinants of AH in patients with NC21OHD are apparently age at diagnosis and initiation of therapy, and genotype. Early diagnosis and initiation of glucocorticoids therapy may improve height outcome in those presenting during childhood.