Association of increased cortical thickness and cognitive impairment in patients with Kallmann syndrome
Authors' conclusion
This study identified cortical thickening involved in fronto-limbic and default mode network as key neuroanatomical signatures of the patients with KS, which was associated with cognitive impairment. Specific genetic variants may further modulate the structural alterations and cognitive functioning in patients with KS.
Study context
- Population
- Patients with Kallmann syndrome and age- and sex-matched healthy controls; high-resolution structural MRI and neuropsychological assessment (MoCA, SCWT, TMT, DST, VR)
- Participants
- 100 vs 100
- Exposure
- Patients with Kallmann syndrome (KS) vs healthy controls
- KSn = 100
- Healthy controlsn = 100reference
- Outcome
- Cognition and cortical thickness, KS vs healthy controls
Methodological detailsprospective recruitment, age- and sex-matched healthy controls, whole-exome sequencing, neuroimaging-transcription analysis
- Prospective recruitment
- Age- and sex-matched healthy controls
- Whole-exome sequencing
- Neuroimaging-transcription analysis
Main finding
As reported in the abstract
| Group | Value | MoCA below clinical cutoff for cognitive impairment |
|---|---|---|
| KS | 36% | 36% |
KS
Value36%
MoCA below clinical cutoff for cognitive impairment36%
- KS vs Healthy controls: all P-value < .05 — impairments in SCWT-C, DST-Backward, TMT-B and VR
- KS vs Healthy controls: cluster random field theory corrected P-value < .05 — bilateral increased cortical thickness, mainly fronto-limbic circuit (orbitofrontal, subgenual cingulate) and default mode network; voxel P-value < .001
- KS vs Healthy controls: P-FDR = .048 — bilateral hippocampal enlargement
Observational data: associations, not effects.
Further findings
Brain-cognition correlation in KS
- Fronto-limbic cortical thickness negatively correlated with SCWT-C and DST
Exploratory genetic analysis
- Variants in genes such as OTUD4 and FGFR1 linked to cognitive variability (TMT-A and VR)
- Exploratory
Extrapolated gene expression
- Spatial pattern of cortical thickening significantly associated with gene expression profiles enriched for neurodevelopment, neuronal migration and synaptic function
Original publication
Association of increased cortical thickness and cognitive impairment in patients with Kallmann syndrome. Eur J Endocrinol. Published 30 January 2026. doi:10.
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