The Spectrum of GH Excess in Carney Complex and Genotype-phenotype Correlations
Authors' conclusion
Dysregulation of GH secretion is a common finding in CNC. Knowing the clinical spectrum of this disorder and its association with genetic and imaging characteristics of the patient make more likely its prompt diagnosis and better management.
Study context
- Population
- Patients with Carney complex (CNC) with at least 1 biochemical evaluation of GH secretion at one center, 1995–2021
- Participants
- 140 patients
- Outcome
- Frequency of GH excess (GHE)
Methodological detailssingle-centre, Symptomatic acromegaly managed with surgical and medical approaches
- Single-centre
- Symptomatic acromegaly managed with surgical and medical approaches
Main finding
As reported in the abstract
GH excess (GHE)
50
35.7%
Symptomatic acromegaly
28
20%
Median age at diagnosis, GHE
25.3 years
Median age at diagnosis, symptomatic acromegaly
26.1 years
Observational data: associations, not effects.
Further findings
Risk of GHE by genotype
| HR (95% CI) | ||
|---|---|---|
| Variant with no expression of affected allele | 3.06 (1.2–7.8) | |
| Hotspot variant c.491_492delTG | 2.10 (1.1–4.1) | |
| 0.10.31310Hazard ratio (log scale) |
Risk of GHE with abnormal pituitary imaging
| HR (95% CI) | ||
|---|---|---|
| Abnormal pituitary imagingEspecially with single or multiple adenoma-like lesions | 2.94 (1.5–5.8) | |
| 0.20.5125Hazard ratio (log scale) |
- Risk of GHE with abnormal pituitary imaging — Abnormal finding on pituitary imaging
- almost half of patients
PRKAR1A gene defect
- PRKAR1A gene defect
- 99.3%
Original publication
The Spectrum of GH Excess in Carney Complex and Genotype-phenotype Correlations. J Clin Endocrinol Metab. Published 13 April 2024. doi:10.
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