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Hormones

, Volume 13, Issue 4, pp 568–573 | Cite as

A novel succinate dehydrogenase type B mutation in an Iranian family. Its genetic and clinical evaluation

  • Ali A. Ghazi
  • Ali Mosaddegh Khah
  • Fereshteh Kamani
  • Khandan Zare
  • Alireza Sadeghipour
  • Mehdi Hedayati
  • Marjan Zarif Yeganeh
  • Treena Cranston
  • Ashley Grossman
Case report

Abstract

Succinate Dehydrogenase-B (SDH-B) gene mutations constitute one of the most frequent forms of hereditary paragangliomas (PGL). Genetic study is advised in all cases for the evaluation of tumour behaviour, the selection of optimal management and the surveillance of the first degree relatives. There are limited data on the genetic characteristics of patients with PGLs from Middle East countries, and to our knowledge this is the first study from Iran. We present the clinical and genetic characteristics of a 29-year old woman who presented with hypertension secondary to a para-aortic PGL. She was shown to have a novel mutation in the SDH-B gene and her family was subsequently screened. We also emphasize the problems in diagnosing and treating patients in this region.

Key words

Family Iran Paraganglioma Phaeochromocytoma SDH-B 

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Copyright information

© Hellenic Endocrine Society 2014

Authors and Affiliations

  • Ali A. Ghazi
    • 1
  • Ali Mosaddegh Khah
    • 1
  • Fereshteh Kamani
    • 2
  • Khandan Zare
    • 3
  • Alireza Sadeghipour
    • 4
  • Mehdi Hedayati
    • 1
  • Marjan Zarif Yeganeh
    • 1
  • Treena Cranston
    • 5
  • Ashley Grossman
    • 6
  1. 1.Endocrine Research center, Research Institute for Endocrine SciencesShahid Beheshti University of Medical SciencesTehranIran
  2. 2.Department of Surgery, Taleghani General HospitalShahid Beheshti University of Medical SciencesTehranIran
  3. 3.Department of Pathology, Taleghani General HospitalShahid Beheshti University of Medical SciencesTehranIran
  4. 4.Department of pathology, Rasool Akram medical complexIran University of Medical SciencesTehranIran
  5. 5.Department of Clinical GeneticsChurchill HospitalOxfordUK
  6. 6.Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill HospitalUniversity of OxfordOxfordUK

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