17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases
Authors' conclusion
17-OHD is a rare, frequently misdiagnosed disease. Male patients are typically diagnosed earlier because of genital dysplasia associated with less severe variants, whereas female patients are typically diagnosed later from primary amenorrhea and hypertension. Patients presenting with disordered sexual development and hypertension should be investigated for 17-OHD.
Study context
- Participants
- 465 participants178 studies
- Comparison
- CYP17A1 genotype vs clinical presentation
- Outcome
- Associations between CYP17A1 causative variants and clinical presentation
Methodological detailspooled individual patient data, case reports and cohort studies, 1988–2022
- Pooled individual patient data
- Case reports and cohort studies, 1988–2022
Pooled result
As reported in the abstract
Genotype–phenotype associations
- More severe variants (eg p.Y329Kfs) associated with hypocortisolism
- P < .05
- More severe variants associated with combined hypokalemia and hypertension
- P < .01
- More severe variants associated with disordered sexual development
- P < .01
Further pooled results
Patient characteristics
- Mean age (SD), years
- 18.9 (9.0)
- XY
- 52.5% (n = 244)
- Phenotypically male
- 6.4% (n = 29)
- Homozygous variants
- 48.0% (n = 223)
Common clinical presentations
- Hypertension
- 57.0%, n = 256
- Hypokalemia
- 45.4% n = 211
- Primary amenorrhea
- 38.3%, n = 178
- Cryptorchidism
- 15.3%, n = 71
- Atypical genitalia
- 14.2%, n = 66
Frequent variants
- p.Y329Kfs
- n = 86
- p.D487_F489del
- n = 44
- p.W406R
- n = 39
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases. J Clin Endocrinol Metab. Published 6 November 2024. doi:10.
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