Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience

Jose Bernardo Quintos; Juanita K. Hodax; Bryn A. Gonzales-Ellis; Chanika Phornphutkul; Michael P. Wajnrajch; Charlotte M. Boney

doi:10.1515/jpem-2016-0172

Article

Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience

Jose Bernardo Quintos , Juanita K. Hodax , Bryn A. Gonzales-Ellis , Chanika Phornphutkul , Michael P. Wajnrajch and Charlotte M. Boney

Published/Copyright: October 8, 2016

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 29 Issue 11

Abstract

Kearns-Sayre syndrome (KSS) is characterized by external ophthalmoplegia, retinal pigmentation and cardiac conduction defects due to mitochondrial DNA (mtDNA) deletions. Short stature and growth hormone (GH) deficiency have been reported in KSS, but data on GH treatment is limited. We describe the clinical presentation, phenotype evolution, and response to GH in a patient with KSS and report data on eight additional KSS patients from the KIGS database. Our patient with KSS and GH deficiency achieved a final adult height at −0.8 SDS. In the KIGS database GH treatment resulted in mean improvement in height from −3.9 to −2.9 SDS in patients with KSS. Two patients did not show growth improvement. Our data shows improvement in height SDS in our patient and mixed results in eight additional patients from the KIGS database after treatment with GH. Heterogeneity in responsiveness may relate to presence of GH deficiency or severity of underlying mitochondrial dysfunction.

Keywords: growth hormone; Kearns-Sayre syndrome; short stature

Corresponding author: Jose Bernardo Quintos, MD, Associate Professor of Pediatrics, Department of Pediatrics, Division of Endocrinology, Rhode Island Hospital and The Warren Alpert Medical School of Brown University, 593 Eddy St, Providence, RI 02903, USA, Phone: +401-444-5504, Fax: +401-444-2534

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2016-5-4

Accepted: 2016-8-29

Published Online: 2016-10-8

Published in Print: 2016-11-1

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Articles in the same Issue

https://doi.org/10.1515/jpem-2016-0172

Keywords for this article

growth hormone; Kearns-Sayre syndrome; short stature