Growth and Treatment in Congenital Adrenal Hyperplasia: An Observational Study from Diagnosis to Final Height
Authors' conclusion
Corrected FH was more affected in patients with severe CYP21A2 genotypes. The addition of a low dose of prednisolone to the hydrocortisone treatment, despite an equivalent total dose of glucocorticoids, was associated with shorter FH and higher BMI in growing subjects with CAH.
Study context
- Population
- Subjects diagnosed with congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency in Sweden, 1989–199480 followed until final height (FH)
- Participants
- 86 subjects
- Exposure
- CYP21A2 genotype groups and glucocorticoid treatment strategies
- Outcome
- Corrected final height SDS (cFH SDS) and its correlation with genotype, accumulated total glucocorticoid dose and treatment strategy
- Follow-up
- Final height
Methodological detailsfrom diagnosis to final height
- From diagnosis to final height
Main finding
As reported in the abstract
cFH SDS
- FH shorter in patients with more severe CYP21A2 genotypes
- Null and I2 splice genotypes lost ≈1 SD in FH
- Milder genotypes (I172N, P30L, V281L) within 0.5 to 0 SDS from target height
- cFH SDS negatively affected by prednisolone use
- cFH SDS did not correlate with overall glucocorticoid dose (hydrocortisone equivalents)
Observational data: associations, not effects.
Further findings
Body mass index (BMI) at 18 years
- BMI higher with prednisolone treatment; no correlation with genotype
Glucocorticoid treatment doses
- Doses within international recommendations
- 10-15 mg/m²
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
Growth and Treatment in Congenital Adrenal Hyperplasia: An Observational Study from Diagnosis to Final Height. Horm Res Paediatr. Published 28 November 2023. doi:10.
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