Adrenal disease

The Importance of Disease-specific Growth Charts for Children with Congenital Adrenal Hyperplasia

J Clin Endocrinol MetabPublished Retrospective cohort study

Authors' conclusion

Our study showed that at incremental time points throughout childhood, children with CAH collectively follow specific differences in growth trajectories as compared to unaffected children. These variations highlight the need for CAH-specific charts to assist in clinical management, appraisal of growth trajectories, and assessment of the impact of new therapies.

Study context

Population
Patients aged 0 to 20 years with classic CAH due to 21-hydroxylase deficiency, confirmed by hormonal testing and/or CYP21A2 genotyping, from 2 large clinical databases
Participants
515 patients8,692 visits
Exposure
CAH patients vs CDC 2000 normative charts
  • CAHn = 515
Outcome
CAH-specific percentile curves (height-, weight-, BMI-for-age) and differences in incremental growth vs CDC 2000 normative charts
Follow-up
4, 8, 12, 16, and 20 years of age
Methodological details2 large clinical databases, lamda-mu-sigma semiparametric modeling, nodal-point analyses
  • 2 large clinical databases
  • Lamda-mu-sigma semiparametric modeling
  • Nodal-point analyses

Main finding

As reported in the abstract

Growth (height-, weight-, BMI-for-age) channels · 0 to 20 years
  • Growth channels of CAH patients significantly different over the entire growing period, with diminished pubertal spurt relative to CDC reference
  • 1-sided quantile tests

Observational data: associations, not effects.

Further findings

Age of onset of adiposity rebound (body mass index (BMI)-for-age)

Earlier in CAH females
3.3 years
Earlier in CAH males
3.9 years
Normative counterparts
5-8 years

Original publication

The Importance of Disease-specific Growth Charts for Children with Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. Published 6 October 2025. doi:10.1210/clinem/dgaf554

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