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.
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Authors | Jose Bernardo Quintos, Juanita K Hodax, Bryn A Gonzales-Ellis, Chanika Phornphutkul, Michael P Wajnrajch, Charlotte M Boney |
Journal | Journal of pediatric endocrinology & metabolism : JPEM
(J Pediatr Endocrinol Metab)
Vol. 29
Issue 11
Pg. 1319-1324
(Nov 01 2016)
ISSN: 2191-0251 [Electronic] Germany |
PMID | 27718492
(Publication Type: Journal Article, Review)
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Chemical References |
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Topics |
- Body Height
- Child
- Electronic Health Records
- Female
- Growth Disorders
(etiology, prevention & control)
- Hormone Replacement Therapy
(adverse effects)
- Human Growth Hormone
(adverse effects, deficiency, therapeutic use)
- Humans
- Kearns-Sayre Syndrome
(drug therapy, physiopathology)
- Precision Medicine
- Treatment Outcome
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