Contemporary global management of 21-hydroxylase deficiency congenital adrenal hyperplasia in early infancy: a multi-national registry study
Authors' conclusion
Contemporary management of CAH in early infancy varies considerably. Hypertension and hyperkalemia are frequently reported. Our data may help inform development of quality indicators for benchmarking CAH care in infancy.
Study context
- Population
- Infants with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) born in 2018–2023, I-CAH Registry, 33 centers in 18 countries; management over the first 90 days of life92 female, 62 male
- Participants
- 154 infants
- Outcome
- Management of CAH in early infancy
- Follow-up
- First 90 days of life
Methodological detailsmultinational, multicentre
- Multinational
- Multicentre
Main finding
As reported in the abstract
- Diagnosed postnatally
- 136
- Presentation age, median (10th, 90th centile)
- Day 4 (0, 20.8)
- Hydrocortisone (HC) dose at initial hospital discharge, median (10th, 90th centile)
- 17 (11.4, 39.6) mg/m²/day
- Fludrocortisone (FC) dose at initial hospital discharge, median (10th, 90th centile)
- 100 (50, 200) mcg/day
- Salt dose at initial hospital discharge, median (10th, 90th centile)
- 3.5 (1.6, 8.7) mmol/kg/day
- HC dose at D90, median (10th, 90th centile)
- 14.5 (8.7, 24.1) mg/m²/day
- FC dose at D90, median (10th, 90th centile)
- 100 (50, 200) mcg/day
- Salt dose at D90, median (10th, 90th centile)
- 2.1 (1.0, 5.2) mmol/kg/day
- Total hospitalization duration over 90 days, median (10th, 90th centile)
- 9 days (2, 24)
- Seen by a pediatric endocrinologist by D90 (males:females)
- 95.9% (58:84)
- Seen by a psychologist by D90 (males:females)
- 33.3% (9:35)
- Seen by a pediatric endocrine nurse specialist by D90 (males:females)
- 42.1% (20:36)
- Seen by a surgeon by D90 (males:females)
- 23.8% (0:35)
Observational data: associations, not effects.
Further findings
BP measurement at D90
- BP measurements recorded
- 30.5%
- Hypertension reported among those with BP recorded
- 31.9%
Safety
Electrolyte disturbances, hypoglycemia and adrenal crises · first 90 days of life
- Hyponatremia
- 70.0%
- Hyperkalemia
- 71.9%
- Hypoglycemia
- 13.0%
- Hyponatremia at D90
- 7.4%
- Hyperkalemia at D90
- 28.6%
- Hospitalization episodes associated with adrenal crises
- 40. 6%
Original publication
Contemporary global management of 21-hydroxylase deficiency congenital adrenal hyperplasia in early infancy: a multi-national registry study. Eur J Endocrinol. Published 14 January 2026. doi:10.
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