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Hormones

, Volume 11, Issue 3, pp 377–379 | Cite as

A novel finding in MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy): hypergonadotropic hypogonadism

  • İsmail Hakkι Kalkan
  • Öykü Tayfur
  • Erkin Öztaş
  • Yavuz Beyazit
  • Hakan Yildiz
  • Bilge Tunç
Case report

Key words

Hypergonadotropic hypogonadism Mitochondrial myopathy MNGIE 

References

  1. 1.
    Bariş Z, Eminoğlu T, Dalgiç B, Tümer L, Hasanoğlu A, 2010 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation. Eur J Pediatr 169: 1375–1378.CrossRefGoogle Scholar
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    Carod-Artal FJ, Herrero MD, Lara MC, et al, 2007 Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. Eur J Neurol 14: 581–585.CrossRefGoogle Scholar
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    Nishino I, Spinazzola A, Hirano M, 1999 Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689–692.CrossRefGoogle Scholar
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    Joko T, Iwashige K, Hashimoto T, et al, 1997 A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction. Endocr J 44: 805–809.CrossRefGoogle Scholar
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    Barrientos A, Casademont J, Genis D, et al, 1997 Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency. Hum Mutat 10: 212–216.CrossRefGoogle Scholar
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    Quade A, Zierz S, Klingmüller D, 1992 Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia. Clin Investig 70: 396–402.PubMedGoogle Scholar

Copyright information

© Hellenic Endocrine Society 2012

Authors and Affiliations

  • İsmail Hakkι Kalkan
    • 1
  • Öykü Tayfur
    • 1
  • Erkin Öztaş
    • 1
  • Yavuz Beyazit
    • 1
  • Hakan Yildiz
    • 1
  • Bilge Tunç
    • 1
  1. 1.GastroenterologyTürkiye Yuksek Ihtιsas HospιtalAnkaraTurkey

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