Pubertal characteristics, final height, and associated factors in patients with nonclassical congenital adrenal hyperplasia: a single center experience.

OBJECTIVES

Nonclassical congenital adrenal hyperplasia (NCCAH) is a mild form of 21-hydroxylase deficiency that can lead to premature pubarche, rapid growth, and reduced final height. However, data on pubertal progression and final height outcomes remain variable.

METHODS

This retrospective study evaluated 27 patients (20 females, seven males) with genetically confirmed NCCAH, followed until final adult height at a single tertiary center between 2000 and 2020. Clinical, hormonal, and genetic parameters were assessed. Patients were grouped according to CYP21A2 mutation status: Group 1 consisted of patients with the c.844G>T (p.Val282Leu) homozygous mutation, Group 2 consisted of patients with the c.844G>T (p.Val282Leu) compound heterozygous mutation, and Group 3 consisted of patients with other mutations. Final height outcomes and pubertal characteristics were analyzed, and predictors of growth and factors affecting pubertal onset were examined using linear regression.

RESULTS

The mean age at diagnosis was 8.8 ± 3.2 years. Central precocious puberty (CPP) and rapidly progressive puberty were observed in a total of 9 cases (at presentation and during follow-up). Seven cases used GnRH analogs. Mean final adult height (FAH) SDS was -0.33 ± 0.98, with no significant differences across mutation groups. Pubertal height SDS and height SDS at diagnosis were strongly correlated with FAH SDS (p=0.0001 and p=0.0009, respectively). Although the mean pubertal onset age did not differ significantly across genotypes, menarche was significantly later in the compound heterozygous group (p=0.006). No significant relationship was found between BA/CA, mutation group, and early puberty with either FAH SDS or FAH-predicted adult height (PAH) SDS.

CONCLUSIONS

Final height in NCCAH is primarily influenced by height at diagnosis, pubertal height SDS, and pubertal growth dynamics, rather than genotype or age at presentation. Regular auxological monitoring, timely recognition of pubertal changes, and individualized treatment decisions are critical for optimizing adult height outcomes.