Objective: To describe in a 5-year-old Caucasian male with mitochondrial cytopathy, a biochemical growth hormone (GH) deficiency associated with normal GH biological activity as evaluated by Nb2 cell bioassay and normal serum IGF-I and IGFBP3 values increasing slightly after GH administration. Method: Serum GH concentrations were measured with a commercial immunofluorometric assay and with a biological assay, which uses the Nb2 cell line. Serum IGF-I and IGFBP3 concentrations were measured with RIA. Results: The GH-supplementary therapy was initially effective in terms of growth gain, but no therapeutic benefit was observed over a long period of time. Conclusion: In patients suffering from mitochondrial cytopathy, short stature seems to be attributed more to a disease-related inadequate protein substrate than to the non-classical GH deficiency.

1.
Zeviani M, Amati P, Savoia A: Mitochondrial myopathies. Curr Opin Rheumatol 1994;6:559–567.
2.
Reardon W, Ross RJM, Sweeney MG, Luxon LM, Pembrey ME, Harding AE, Trembath RC: Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992;340:1376–1379.
3.
Burns EC, Preece MA, Cameron N, Tanner JM: Growth hormone deficiency in mitochondrial cytopathy. Acta Paediatr Scand 1982;7:693–697.
4.
Carroll PV, Umpleby AM, Albany E, Jackson NC, Morgan-Hughes JA, Sonksen PH, Russell-Jones DL: Growth hormone therapy may benefit protein metabolism in mitochondrial encephalopathy. Clin Endocrinol 1997;47:113–117.
5.
Matsuuzaki 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;33:271–273.
6.
Yorifuji T, Kawai M, Momoi T, Sasaki H, Furusho K, Muroi J, Shimizu K, Takahashi Y, Matsumura M, Nambu M, Okuno T: Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA [Leu(UUR)] mutation. J Med Genet 1996;33:621–622.
7.
Balestri P, Grosso S: Endocrine disorders in two sisters affected by MELAS syndrome. J Child Neurol 2000;15:755–758.
8.
Egger J, Lake BD, Wilson J: Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy. Arch Dis Child 1981;56:741–752.
9.
Mosewich RK, Donat JR, Di Mauro S, Ciafaloni E, Shaske S, Erasmus M, George D: The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes presenting without stroke. Arch Neurol 1993;50:275–278.
10.
Toppett M, Tolerman-Toppett N, Szliwowski HB, Bainsel M, Coers C: Oculocraniosomatic neuromuscular disease with hypoparathyroidism. Am J Dis Child 1977;131:437–441.
11.
Simpoulus AP, Delea CS, Bartler FC: Neurodegenerative disorders and hyperaldosteronism. J Pediatr 1971;79:633–641.
12.
Berenberg RA, Pellock JM, Di Mauro S, Schotland DL, Bonilla E, Eastwood A, Hays A, Vicale CT, Behrens M, Chutorian A, Rowland LP: Lumping or splitting? ‘Ophthalmoplegia-plus’ or Kearns-Sayre syndrome? Ann Neurol 1977;1:37–54.
13.
Butler IJ, Gadoth N: Review of multisystem disorder of children and young adults. Arch Intern Med 1997;136:1290–1293.
14.
Bozzola M, Zecca M, Locatelli F, Radetti G, Pagani S, Autelli M, Tatò L, Chatelain P: Evaluation of growth hormone bioactivity using the Nb2 cell bioassay in children with growth disorders. J Endocrinol Invest 1998;21:765.
15.
Bozzola M, Radetti G, Pagani S, Draghi M, Aimaretti G, Rondini G: The level of bioavailable growth hormone (GH) after the first GH injection predicts the first year’s growth response in GH-deficient children. J Endocrinol Invest 1999;22:790–795.
16.
Bozzola M, Radetti G, Buzi F, Tonini G, Moretta A, Autelli M, Aglialoro A, Rondini G, Barreca A: Growth hormone bioactivity and immunoactivity in tall children. J Endocrinol Invest 1999;22:541–546.
17.
Russell-Jones DL, Weissberger AJ, Bowes SB, Kelly JM, Thomason M, Umpleby AM, Jones RH, Sönkesen PH: The effects of growth hormone on protein metabolism in adult growth hormone deficient patients. Clin Endocrinol 1993;38:427–431.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.