Endocrine dysfunction among patients with Kearns-Sayre Syndrome

This scoping review aims to explore and map the types of endocrine dysfunctions reported in individuals diagnosed with Kearns-Sayre Syndrome (KSS), a rare mitochondrial disorder. Given the lack of large-scale studies and the predominance of case reports and case series in existing literature, this review seeks to identify, categorize, and synthesize the evidence on endocrine gland involvement, associated clinical features, and potential patterns across reported cases. The review will follow PRISMA-ScR guidelines and include studies from inception to the present indexed in databases such as PubMed, MEDLINE, EMBASE, and others. The findings will help clinicians recognize endocrine manifestations in KSS early, aiding timely diagnosis and management.

Publication Details

Journal
Open Science Framework
Published
2025-01-01
DOI
https://doi.org/10.17605/osf.io/kjcy8
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
0.00
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article

Endocrine dysfunction among patients with Kearns-Sayre Syndrome

Open Science Framework
Mitochondrial Function and Pathology
article

Endocrine dysfunction among patients with Kearns-Sayre Syndrome

article en

Abstract

This scoping review aims to explore and map the types of endocrine dysfunctions reported in individuals diagnosed with Kearns-Sayre Syndrome (KSS), a rare mitochondrial disorder. Given the lack of large-scale studies and the predominance of case reports and case series in existing literature, this review seeks to identify, categorize, and synthesize the evidence on endocrine gland involvement, associated clinical features, and potential patterns across reported cases. The review will follow PRISMA-ScR guidelines and include studies from inception to the present indexed in databases such as PubMed, MEDLINE, EMBASE, and others. The findings will help clinicians recognize endocrine manifestations in KSS early, aiding timely diagnosis and management.

Open Science Framework
Openalex Percentile: Top 52%
Mitochondrial Function and Pathology
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Endocrine dysfunction among patients with Kearns-Sayre Syndrome · Open Science Framework (2025) | TGRS Research Map | TGRS