Introduction: An optimized replacement regimen with glucocorticoids and mineralocorticoids in subjects with congenital adrenal hyperplasia (CAH) aims at preventing life-threatening salt wasting and adrenal crises, virilization and pubertal precocity, and at enabling normal linear growth.
Aims: We investigated puberty and its impact on final height in children and adolescents with CAH.
Patients and Methods: In a cohort of post-pubescent male (n=172) and female (n=284) adolescents with CAH, the following parameters, documented in the German CAH registry, were retrospectively analyzed: Age at pubertal onset (Tanner stage B2 / single testicular volumes ≥ 4 ml), final adult height and parental target height, the Δ between height SDS of the subjects during ages 04, 58, 912, 1316 and >16 years and their corresponding target height SDS. In addition, the relationship of age at pubertal onset and the Δ between height SDS at pubertal onset and final height SDS were investigated. Puberty data were compared to published references from the Danish puberty study; height references were retrieved from the German AGA registry.
Results: Median age at pubertal onset was 9.75 [Q1;Q3:8.43;10.74] years in CAH females (vs. 10.88 years in the reference population), and 10.83 [8.69;12.99] years in CAH males (vs. 11.66 years). Male patients median final height was 7 cm below their median target height (172 [166;178] vs. 179 [174;182] cm); and females 3 cm below it (161 [156;167] vs. 164 [161;168] cm). While median height-SDS before pubertal onset in both sexes was above median target height SDS, it continuously dropped during puberty on a value below it. This pubertal height SDS-loss was highest in subjects with precocious pubertal onset: 2.5 [1.4;3.3] SDS in boys with pubertal onset ≤9 years / 2.1 [1.5;2.5] SDS in girls with onset ≤8 years. Boys with normal pubertal onset (at ages 1013) experienced a height SDS-loss of 1.0 [0.3;1.8]; girls with normal pubertal onset (at ages 912) a loss of 0.7 [0.1;1.2]. In boys with late puberty (at ages ≥ 14), height SDS-loss was 0.4 [0.2;0.9]. By contrast, girls with late pubertal onset (at ages ≥12) experienced a height SDS-gain of 0.5 [−0.2;0.9].
Conclusion: Current treatment is more effective in delaying pubertal precocity in CAH boys than in girls. Height SDS loss occurs in both sexes during puberty; it is inversely correlated to age at pubertal onset. Adult height within mid-parental expectations is reached more often in CAH females than in males.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology