Growth hormone deficiency in a patient with mitochondrial disease

Journal of Pediatric Endocrinology & Metabolism : JPEM
Vera RochaJorge Sales Marques

Abstract

Mitochondrial respiratory chain (MRC) disorders, defined as primary diseases of the oxidative phosphorylation system, are a protean group of metabolic disorders, difficult to diagnose and classify. The diagnosis is complex and requires the integration of information obtained by clinical, laboratory testing, imaging and muscle biopsy. They may be associated with endocrine disorders, including hypothyroidism, diabetes mellitus, hyperinsulinemia and growth hormone (GH) deficiency. We describe a case of five years old male with polymalformative syndrome with a systemic involvement. At 6 months of age, he was sent to metabolic consultation because of facial dysmorphy and short stature. During the investigation it was diagnosed at the boy a growth hormone deficiency and because of his multisystemic involvement, muscle biopsy was carried out and showed reduced activity of complex II (38%) of the mitochondrial respiratory chain. Currently, the boy is under GH therapy with growth in the 5th percentile and coenzime Q10. Mitochondrial biology is one of the fastest growing areas in genetics and medicine. Disturbances in mitochondrial metabolism are now known to play a role not only in rare childhood diseases, but also in many common diseas...Continue Reading

References

Oct 7, 2008·Journal of the Neurological Sciences·Claudia C Ferreiro-BarrosMichio Hirano
Jul 12, 2011·Journal of Inherited Metabolic Disease·Elizabeth A BraunlinRoberto Giugliani
Jun 19, 2013·Molecular and Cellular Endocrinology·Andrew M SchaeferRobert W Taylor
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Citations

Nov 19, 2015·European Journal of Endocrinology·Jan M WitSarina G Kant
Sep 10, 2015·Journal of Pediatric Endocrinology & Metabolism : JPEM·Wieland KiessJürgen Kratzsch
Mar 10, 2016·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mohammad MiryounesiSoudeh Ghafouri-Fard
Nov 4, 2016·Nature Reviews. Endocrinology·Jasmine ChowShamima Rahman
Jul 7, 2018·The Neuroradiology Journal·Josef Finsterer, Sinda Zarrouk-Mahjoub
Apr 18, 2020·Journal of Biochemistry·Keigo MatsunoShigeru Yanagi
Mar 30, 2018·Journal of the Endocrine Society·Iman S Al-GadiShana E McCormack
Apr 5, 2018·Journal of Pediatric Endocrinology & Metabolism : JPEM·Sahin Erdol, Halil Saglam
Oct 14, 2021·Endocrine Reviews·Yi Shiau NgMark Walker

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