Genotype-Specific Cortisol Reserve in a Cohort of Subjects With Nonclassic Congenital Adrenal Hyperplasia (NCCAH)
Authors' conclusion
The high rate of partial adrenal insufficiency in the mild/severe group underscores the need to carefully consider the value of glucocorticoid therapy cessation and the importance of stress coverage in this group.
Study context
- Population
- Patients with NCCAH presenting with postnatal virilization; ACTH-stimulated 17OHP ≥40 nmol/L screened for CYP21A2 mutations; 16 heterozygous for p.V281L excluded16 heterozygotes excluded
- Participants
- 122 patients
- Exposure
- Mild/severe vs mild/mild CYP21A2 genotype in NCCAH
- Mild/severen = 29
- Mild/mildn = 77reference
- Outcome
- ACTH-stimulated cortisol and 17OHP levels and rate of partial cortisol insufficiency (stimulated cortisol <500 nmol/L)
Methodological detailsretrospective medical record review
- Retrospective medical record review
Main finding
As reported in the abstract
Stimulated cortisol
P < 0.001
Observational data: associations, not effects.
Further findings
Partial cortisol insufficiency · higher with mild/severe
P = 0.004
Peak 17OHP · higher with mild/severe
P < 0.001
Original publication
Genotype-Specific Cortisol Reserve in a Cohort of Subjects With Nonclassic Congenital Adrenal Hyperplasia (NCCAH). J Clin Endocrinol Metab. Published 16 September 2023. doi:10.
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