Growth characteristics of children with 21-hydroxylase deficiency and the value of steroid hormones in height assessment.

BACKGROUND

Impaired height is a common complication of 21-hydroxylase deficiency (21OHD), yet sensitive monitoring indicators remain limited. This study aims to elucidate growth characteristics and identify effective monitoring parameters for 21OHD children.

METHODS

Cross-sectional data from 111 patients were categorized into four groups based on age and developmental stage: 0 - 2 years, 2 years old to pre-pubertal initiation, puberty initiation to pre-epiphyseal closure, and post-epiphyseal closure, named groups A to D, respectively. Each group was further stratified by phenotype and sex. Height standard deviation scores (HSDS), corrected for bone age (BA) and target height (HSDS - THSDS, HBASDS - THSDS), were calculated. Steroid hormone levels and hydrocortisone (HC) doses were analyzed using statistical models to identify factors influencing height.

RESULTS

The medians of HSDS - THSDS were > 0 in all subgroups of Group A. The medians of HBASDS - THSDS were < 0 in all subgroups of Group B, and 17-hydroxyprogesterone (17OHP) and HC dose significantly positively influenced BA advancement. BA of patients in Group C was older than the calendar age(CA), while the medians of HBASDS - THSDS in all subgroups except the non-classic females were all < 0, and 17OHP, 21-deoxycortisol(21DOF), and 11-oxy-androgen were significant influencing factors. The medians of final height (FHSDS - THSDS) of all subgroups in Group D were < 0, males with classic 21OHD significantly lower than females.

CONCLUSIONS

21OHD children exhibit accelerated bone maturation as early as childhood, worsening during adolescence, leading to severely impaired growth potential and final height. 17OHP, 21DOF, and 11-oxy-androgens are promising biomarkers for evaluating growth and bone maturity.