The Use of Routine Laboratory 17‐Hydroxyprogesterone for Identification of Cases of 21‐Hydroxylase Deficiency Congenital Adrenal Hyperplasia
Authors' conclusion
The 17OHP-based algorithm that was used in this study represents a useful method for identifying existing cases of CAH and can allow improved understanding of routinely collected markers of clinical outcome.
Study context
- Population
- Cases with 17OHP assays processed in NHS Greater Glasgow and Clyde 2014–2022; confirmed 21-hydroxylase deficiency CAH116 confirmed CAH
- Participants
- 57,011 cases
- Outcome
- Identification of existing CAH cases by a 17OHP-based methodology
Methodological detailslaboratory 17OHP-based case-identification algorithm, single health board (NHS Greater Glasgow and Clyde)
- Laboratory 17OHP-based case-identification algorithm
- Single health board (NHS Greater Glasgow and Clyde)
Main finding
As reported in the abstract
Case identification
Confirmed CAH cases identified (F:M, 81:35)
116
Not reported by any local clinical data logs
66
57%
Observational data: associations, not effects.
Further findings
Characteristics of confirmed cases · at time of study
- Median age, years (range)
- 33 (2, 75)
- Over 16 years (F:M, 69:26)
- 95 (82%)
- Adults diagnosed in childhood (≤ 16 years)
- 52 (55%)
- Males diagnosed in adulthood
- 1
Body mass index (BMI) and systolic blood pressure (BP) · most recent
- Median BMI SD score, children
- 0.70 (−2.43, 3.15)
- Median BMI, adults
- 28 (15, 56)
- Median systolic BP, adults
- 120 mmHg (95, 153)
- Median systolic BP, children
- 106 mmHg (83, 130)
Original publication
The Use of Routine Laboratory 17‐Hydroxyprogesterone for Identification of Cases of 21‐Hydroxylase Deficiency Congenital Adrenal Hyperplasia. Clin Endocrinol (Oxf). Published 21 November 2025. doi:10.
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