Context: There is a limited data from large cohorts regarding pubertal characteristics of children with classical 21-hydroxylase deficiency(21OHD).
Objective: To explore the timing and tempo of puberty, and pubertal height gain(PHG) in children with 21OHD-CAH.
Design: A multicenter observational, retrospective, longitudinal analysis.
Patients: Data from 283 patients (876 visit measurements) with classical 21OHD (195 salt-wasting(SW) and 88 simple-virilising(SV)) were analysed.
Main outcome measures: Ages of attainment of Tanner stages, bone maturation, height gain, final height(FH), midparental height(MPH) were collected. Puberty modifying therapies(PMTs) such as gonadotropin releasing hormone analog(GnRHa), aromatase inhibitors(AI) and cyproterone acetate(CPA) were recorded.
Results: 152 of 283 patients were pubertal/postpubertal (85F, 67M). PMTs (GnRHa, AI and CPA) had been used in 18.2, 1.3 and 7.0% in females and, 27.4, 10.5 and 10.5% in males, respectively due to early puberty. In girls, the median age of attainment(MAA) of breast stage 2(B2) was 8.9(IQR:7.8-10.0)years. In those, who did not receive PMT, MAA of B3 through B5 were 11.1, 12.4, and 14.2years, respectively, and median age of menarche was 13.2years. MAA of pubic hair stage 2(P2) was 8.4years. In girls with longitudinal data from B2 to final height and no PMTs, duration from B2 to menarche was 3.4years, B2 to B5 was 3.6years, height gain from B2 to menarche and B2 to final height was 13.9 and 17.5cm, respectively. In girls who received PMTs, these figures were 5.5years, 6.4years, 21.7cm and 24.1cm, respectively. In boys, the MAA of G2 through G5 were 8.8, 12.7, 13.7, and 15.1years and P2 was 8.2years. In boys with longitudinal data from G2 to final height and no PMTs, median duration from G2 to G5 was 4.1years, height gain from G2 to G5 and G2 to final height was 21.0cm and 28.1cm, respectively. In boys who received PMTs, these figures were 7.5years, 29.1 and 32.9cm, respectively. PHG was similar between SW and SV groups. PHG was related inversely to height at pubertal onset(P=0.03) and positively to duration of puberty(P<0.05). Peak growth velocity observed between Tanner II to III in both sexes. Median FH was 154cm(-1.5 SDS) in girls and 167cm(-1.5 SDS) in boys and was comparable to height predicted at Tanner II.
Conclusion: While mean age at onset of puberty is earlier, the tempo of puberty is slower and duration of puberty is prolonged leading to preserved pubertal height gain in patients with classical 21OHD.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology