Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study
Authors' conclusion
Our study highlights that cortisol deficiency due to primary AI represents a relevant part of the clinical spectrum in SLSMDs, with more severe impairment in PS than in KSS. Basal and after-stimulus assessment of adrenocortical axis should be early and regularly investigated to identify any degree of adrenocortical dysfunction. The study allowed the elaboration of a diagnostic process designed for the diagnosis, treatment, and follow-up of adrenocortical abnormalities in SLSMDs.
Study context
- Population
- Patients with Single Large Scale Mitochondrial DNA Deletions (Pearson Syndrome, Kearns-Sayre Syndrome)
- Participants
- 18 vs 92
- Exposure
- SLSMDs patients vs healthy controls
- SLSMDsn = 18
- Healthy controls (HC)n = 92reference
- Outcome
- Adrenocortical function: baseline ACTH and cortisol, and high- (HDT) and low-dose (LDT) ACTH stimulation tests
Methodological detailssingle-centre, longitudinal
- Single-centre
- Longitudinal
Main finding
As reported in the abstract
Adrenocortical function
- Baseline adrenocortical function impaired
- 39% of patients
- Insufficient increase after adrenocorticotrophic hormone (ACTH) stimulation by end of study, Pearson Syndrome (PS)
- 66%
- Insufficient increase after ACTH stimulation by end of study, Kearns-Sayre Syndrome (KSS)
- 25%
- More reduced response to LDT vs HDT
- P < .05
Observational data: associations, not effects.
Further findings
- Symptomatic adrenal insufficiency (AI) recorded
- 44% of patients
Original publication
Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study. Eur J Endocrinol. Published 10 October 2023. doi:10.
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