Growth-hormone deficiency in mitochondrial disorders

Josef Finsterer 1  and Marlies Frank 2
  • 1 Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria, Europe
  • 2 First Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria, Europe
Josef Finsterer and Marlies Frank

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  • 1.

    Quintos JB, Hodax JK, Gonzales-Ellis BA, Phornphutkul C, Wajnrajch MP, et al. Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience. J Pediatr Endocrinol Metab 2016;29:1319–24.

  • 2.

    Kang YX, Wang YJ, Zhang Q, Pang XH, Gu W. A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: a case report and literature review. Andrologia 2016. doi: .

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    • Export Citation
  • 3.

    Berio A, Piazzi A. Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. Pediatr Med Chir 2013;35:137–40.

  • 4.

    Obara-Moszynska M, Maceluch J, Bobkowski W, Baszko A, Jaremba O, et al. A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment. BMC Pediatr 2013;13:27.

  • 5.

    Holloman CM, Wolfe LA, Gahl WA, Boerkoel CF. Kearns-Sayre syndrome presenting as isolated growth failure. BMJ Case Rep 2013;2013. pii: bcr2012007272.

  • 6.

    Berio A, Piazzi A. Facial anomalies in a patient with cytochrome-oxidase deficiency and subsequent Kearns-Sayre syndrome with growth hormone deficiency. Minerva Med 2007;98:81–5.

  • 7.

    De Sanctis V, Calzolari F, Piazzi A, Berio A. Kearns-Sayre syndrome associated with growth hormone deficiency. Pediatr Med Chir 2003;25:447–51.

  • 8.

    Berio A, Piazzi A. Kearns-Sayre syndrome with GH deficiency. Pediatr Med Chir 2000;22:43–6.

  • 9.

    Mohri I, Taniike M, Fujimura H, Matsuoka T, Inui K, et al. A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up. J Neurol Sci 1998;158:106–9.

  • 10.

    Eviatar L, Shanske S, Gauthier B, Abrams C, Maytal J, et al. Kearns-Sayre syndrome presenting as renal tubular acidosis. Neurology 1990;40:1761–3.

  • 11.

    Burns EC, Preece MA, Cameron N, Tanner JM. Growth hormone deficiency in mitochondrial cytopathy. Acta Paediatr Scand 1982;71:693–7.

  • 12.

    Egger J, Kendall BE. Computed tomography in mitochondrial cytopathy. Neuroradiology 1981;22:73–8.

  • 13.

    O’Grady MJ, Monavari AA, Cotter M, Murphy NP. Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion. BMJ Case Rep 2015;2015. pii: bcr2014208514.

  • 14.

    Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, et al. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. Hum Mutat 2014;35:1285–9.

  • 15.

    Romano S, Samara D, Crosnier H, Valayannopoulos V, Polak M, et al. Variable outcome of growth hormone administration in respiratory chain deficiency. Mol Genet Metab 2008;93:195–9.

  • 16.

    Cassandrini D, Savasta S, Bozzola M, Tessa A, Pedemonte M, et al. Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism. J Child Neurol 2006;21:983–5.

  • 17.

    Saneto RP, Bouldin A. A boy with muscle weakness, hypercarbia, and the mitochondrial DNA A3243G mutation. J Child Neurol 2006;21:77–9.

  • 18.

    Barberi S, Bozzola E, Berardinelli A, Meazza C, Bozzola M. Long-term growth hormone therapy in mitochondrial cytopathy. Horm Res 2004;62:103–6.

  • 19.

    Matsuzaki M, Izumi T, Shishikura K, Suzuki H, Hirayama Y. Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Neuropediatrics 2002;33:271–3.

  • 20.

    Balestri P, Grosso S. Endocrine disorders in two sisters affected by MELAS syndrome. J Child Neurol 2000;15:755–8.

  • 21.

    Gücüyener K, Seyrantepe V, Topaloğlu H, Ozgüç M. Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy. J Inherit Metab Dis 1998;21:173–4.

  • 22.

    Yorifuji T, Kawai M, Momoi T, Sasaki H, Furusho K, et al. Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. J Med Genet 1996;33:621–2.

  • 23.

    Niaudet P, Heidet L, Munnich A, Schmitz J, Bouissou F, et al. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome. Pediatr Nephrol 1994;8:164–8.

  • 24.

    Yang CY, Lam HC, Lee HC, Wei YH, Lu CC, et al. MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan. Clin Endocrinol (Oxf) 1995;43:235–9.

  • 25.

    Chen XY, Zhao SY, Wang Y, Wang D, Dong CH, et al. A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression. Mitochondrial DNA A DNA Mapp Seq Anal 2016;27:2492–5.

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The Journal of Pediatric Endocrinology and Metabolism (JPEM) is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups, and publishes the results of clinical investigations in pediatric endocrinology and basic research. JPEM publishes Review Articles, Original Research, Case Reports, Short Communications and Letters to the Editor.