PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series
Authors' conclusion
PDE11A appears to be a modulator of PBMAH phenotype, damaging variants being associated with an attenuated form. This may contribute to the heterogeneity of PBMAH and could affect patient management.
Study context
- Population
- Primary bilateral macronodular adrenal hyperplasia (PBMAH) index cases from Europe and America; leukocyte DNA sequenced for ARMC5 and PDE11A334 phenotype analysed
- Participants
- 354 cases
- Exposure
- PDE11A-damaging variants vs PDE11A wild-type
- Outcome
- Phenotype by PDE11A status
Methodological detailsmulticentre, Europe and America, next-generation sequencing
- Multicentre
- Europe and America
- Next-generation sequencing
Main finding
As reported in the abstract
- PDE11A-damaging variants vs PDE11A wild-type: P = 0.0002
- PDE11A-damaging variants vs PDE11A wild-type: P = 0.016
- PDE11A-damaging variants vs PDE11A wild-type: P = 0.048
Observational data: associations, not effects.
Further findings
| Outcome | OR (95% CI) | P value | |
|---|---|---|---|
| Co-distribution of PDE11A-damaging and ARMC5 pathogenic variantsARMC5-pathogenicvs ARMC5 wild-type | 0.79 (0.26–2.03) | P = 0.83 | |
| Co-distribution of PDE11A-damaging and ARMC5 pathogenic variantsPDE11A-damagingvs PDE11A wild-type | 0.81 (0.27–2.04) | P = 0.83 | |
| 0.20.5125Odds ratio (log scale) |
- Co-distribution of PDE11A-damaging and ARMC5 pathogenic variants: PDE11A-damaging variant distribution by ARMC5 status; no significant difference
- Co-distribution of PDE11A-damaging and ARMC5 pathogenic variants: ARMC5 pathogenic variant distribution by PDE11A status; no significant difference
Variant prevalence
- PDE11A variants considered damaging in silico
- 7 of 16
- Patients with a PDE11A-damaging variant
- 11.4%
- Patients with ARMC5-pathogenic variants
- 19.2%
Phenotype with ARMC5-pathogenic variants
- Treated by adrenalectomy
- 60%
- More severe phenotype with more frequent comorbidities
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
PDE11A Is a Phenotype Modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: Results of a 334-Patient Series. J Clin Endocrinol Metab. Published 7 January 2025. doi:10.
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