Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Endocrine dysfunction in Kearns-Sayre syndrome.

J N Harvey1, D Barnett

  • 1St. James University Hospital, Leeds, UK.

Clinical Endocrinology
|July 1, 1992
PubMed
Summary

Kearns-Sayre syndrome (KSS), a mitochondrial myopathy, often presents with endocrine and metabolic issues. Research indicates short stature and gonadal dysfunction are common, with hypoparathyroidism potentially linked to increased recognition of these diverse symptoms.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The changing incidence of childhood-onset type 1 diabetes in Wales: Effect of gender and season at diagnosis and birth.

Diabetes research and clinical practice·2021
Same author

Effect of structured self-monitoring of blood glucose, with and without additional TeleCare support, on overall glycaemic control in non-insulin treated Type 2 diabetes: the SMBG Study, a 12-month randomized controlled trial.

Diabetic medicine : a journal of the British Diabetic Association·2019
Same author

Paroxysmal nocturnal haemoglobinuria testing in blood transfusion laboratories: do they go with the flow?

Transfusion medicine (Oxford, England)·2017
Same author

Leucocyte Immunophenotyping: The Need for Standardization.

Hematology (Amsterdam, Netherlands)·2016
Same author

Three-dimensional kinetic Monte Carlo simulations of diamond chemical vapor deposition.

The Journal of chemical physics·2015
Same author

Current laboratory practices in flow cytometry for the enumeration of CD 4(+) T-lymphocyte subsets.

Cytometry. Part B, Clinical cytometry·2015

Area of Science:

  • Neurology
  • Endocrinology
  • Genetics

Background:

  • Kearns-Sayre syndrome (KSS) is a rare mitochondrial myopathy characterized by progressive external ophthalmoplegia, pigmentary retinal degeneration, and cardiac conduction defects.
  • KSS is frequently associated with various endocrine and metabolic abnormalities, including short stature, gonadal failure, diabetes mellitus, and thyroid disease.

Observation:

  • This study details a KSS case exhibiting a comprehensive spectrum of these associated features.
  • A literature review was performed to ascertain the prevalence of these endocrine and metabolic conditions in reported KSS cases.
  • Cases with hypoparathyroidism were analyzed to determine if they represent a distinct subgroup with multiple endocrine dysfunctions.

Findings:

  • Short stature affects 38% of KSS patients, and gonadal dysfunction occurs in 20%, impacting both sexes equally.
  • Diabetes mellitus is present in 13% of cases, with half requiring insulin. Thyroid disease, hyperaldosteronism, and hypomagnesaemia are less common but may be underdiagnosed.
  • Bone/tooth abnormalities and basal ganglia calcification are observed irrespective of hypoparathyroidism status. Increased recognition, not necessarily higher prevalence, likely explains more endocrine/metabolic dysfunction in hypoparathyroid KSS patients.

Implications:

  • The findings highlight the significant burden of endocrine and metabolic comorbidities in KSS.
  • Further research is needed to elucidate the mechanisms underlying these associations and optimize patient management.
  • The study suggests KSS management should include comprehensive screening for endocrine and metabolic disorders.

Related Experiment Videos