Work

Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism

Year: 2025

Type: article

Abstract: Kearns-Sayre syndrome is a rare mitochondrial disease that presents before theage of 20 years with ptosis, external ophthalmoplegia, and pigmentary retinopathyassociated with endocrine and cardiac conduction abnormalities. Here we report an18-year-old female presenting with fever, cough, secondary amenorrhea, diabetes,ptosis, external ophthalmople gia, and ataxia . Fundosc opy revealed pigmen tary retinopathy. ECG showed intraventricular conduction abnormalities, and 2Dechocardiography revealed global left ventricular hypokinesia with reduced ejection fraction. Hence, the diagnosis of Kearns-Sayre syndrome was made.

Source: Case Reports in Clinical Practice

DOI: 10.18502/crcp.v9i4.17987

Authors: Sriram Mudraje, Jaideep Khare, Nancy Garg, Sushil Jindal

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4407979370

FWCI: 0.261

Cites:

Cited by: 1

Related to: 10