Survival without treatment of patients with classic and nonclassic 21-hydroxylase deficiency: a multicenter retrospective cohort study
Authors' conclusion
Study on untreated patients with 21OHD provides valuable opportunity to further explore mechanisms that influence glucocorticoid activity and elucidate disease variability in 21OHD.
Study context
- Population
- Patients with congenital adrenal hyperplasia (CAH) due to 21OHD who survived without glucocorticoid treatment; median age 11.0 (classic) and 21.7 years (non-classic (NC))Salt-wasting (SW) 29, simple-virilizing (SV) 23, NC 24
- Exposure
- Classic vs nonclassic 21OHD, untreated with glucocorticoid
- NCn = 24reference
- Outcome
- Duration untreated with glucocorticoid
Methodological detailsmulticenter, open cohort, observational
- Multicenter
- Open cohort
- Observational
Main finding
As reported in the abstract
P < 0.001
Observational data: associations, not effects.
Further findings
Never received glucocorticoid treatment
Safety
- Adrenal crises during untreated period — NC
- 8.3%
- Adrenal crises during untreated period — Classic never-treated: no adrenal crises during untreated period, even during illness or surgery
- 71%
Adrenal crises during untreated period
- Both NC patients with adrenal crisis had I2 splice/P31L genotype
- All adrenal crises except one reported before age 7 years
Original publication
Survival without treatment of patients with classic and nonclassic 21-hydroxylase deficiency: a multicenter retrospective cohort study. J Clin Endocrinol Metab. Published 28 July 2026. doi:10.
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