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

Sriram  Mudraje; Jaideep  Khare; Nancy  Garg; Sushil  Jindal

doi:10.18502/crcp.v9i4.17987

Sriram Mudraje Department of Endocrinology, People’s College of Medical Sciences and Research Centre, Bhopal,India.
Jaideep Khare Department of Endocrinology, People’s College of Medical Sciences and Research Centre, Bhopal,India.
Nancy Garg Department of Endocrinology, People’s College of Medical Sciences and Research Centre, Bhopal,India.
Sushil Jindal Department of Endocrinology, People’s College of Medical Sciences and Research Centre, Bhopal,India.

DOI: https://doi.org/10.18502/crcp.v9i4.17987

Keywords: Kearns sayre syndrome; Mitochondrial diabetes; Pigmentary retinopathy; Ophthalmoplegia

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.