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, H_BASDS - 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 H_BASDS - 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 H_BASDS - 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.