Background: Subjects with non classical congenital adrenal hyperplasia (NCCAH) often present an increased growth velocity secondary to elevation of adrenal androgens that promote early bone maturation and compromise final height (FH). The aim of the study was to analyze prognostic factors affecting growth trajectory and FH in children with NCCAH.
Design: retrospective, multicentric study
Study population: 192 (140 females) NCCAH children with confirmed molecular diagnosis followed from diagnosis up to FH.
Methods: clinical records were collected and analyzed. The study population was divided for gender, with or without hydrocortisone treatment (171 treated with hydrocortisone) and type of the mutation of CYP21A2 gene (V281L homozygosis in 55, compound heterozygosis with V281L in 85 and other mutations in 48 cases).
FH (SDS), pubertal growth (PG) (cm), growth trajectory (GT) since diagnosis to FH (SDS) and FH adjusted to target (TH) (FH-TH)(SDS) were evaluated as outcomes using stepwise linear regression models.
Results: FH SDS and FH-TH were not significantly different in both gender (-0.34 vs -0.36, P =0.98 and -0.05 vs 0.05, P=0.65, respectively).
At stepwise linear regression analysis, FH and FH-TH resulted significantly related to chronological age (CA) (P= 0.008 and 0.016), bone age (BA) / CA ratio (P= 0.004 and 0.001), height (H) (P=0.000 for both parameters) at NCCAH diagnosis and TH (P=0.013 and 0.000) .
PG was higher in males (22.59±5.74 vs 20.72±17.4 cm in females, P=0.002), as physiologically observed, and was positively related to H (P=0.027), negatively to BMI (P=0,001) and BA/CA ratio (P=0.001) at NCCAH diagnosis.
The type of the mutation of CYP21A gene and hydrocortisone doses did not influence significantly the parameters of growth of our NCCAH patients.
The comparison between treated with hydrocortisone and untreated patients did not evidence significant differences on GT, but the statistic value of these results is limited by the small number of untreated group.
Conclusion: FH and GT of NCCAH patients is significantly influenced by auxological parameters at diagnosis (CA, BA/CA ratio, H). Gender, molecular alteration, biochemical picture and hydrocortisone doses seem to have no important influence on height outcome of these NCCAH children.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology