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Hormones

, Volume 15, Issue 2, pp 300–302 | Cite as

A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis

  • Banu Sarer Yurekli
  • Nilufer Ozdemir Kutbay
  • Huseyin Onay
  • Ilgin Yildirim Simsir
  • Gokcen Unal Kocabas
  • Mehmet Erdogan
  • Sevki Cetinkalp
  • Gokhan Ozgen
  • Fusun Saygili
Letter to the editor
  • 2 Downloads

Key words

11-B hydroxylase deficiency Hypokalemia Novel mutation 

References

  1. 1.
    Speiser PW, White PC, 2003 Congenital adrenal hyperplasia. N Engl J Med 349: 776–788.CrossRefGoogle Scholar
  2. 2.
    Kelestimur F, Sahin Y, Ayata D, Tutus A, 1996 The prevalence of non-classical adrenal hyperplasia due to 11 beta-hydroxylase deficiency among hirsute women in a Turkish population. Clin Endocrinol (Oxf) 45: 381–384.CrossRefGoogle Scholar
  3. 3.
    Nimkarn S, New MI, 2008 Steroid 11 beta-hydroxylase deficiency congenital adrenal hyperplasia. Trends Endocrinol Metab 19: 96–99.CrossRefGoogle Scholar
  4. 4.
    Curnow KM, Slutsker L, Vitek J, et al, 1993 Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6,7, and 8. Proc Natl Acad Sci U S A 90: 4552–4556.CrossRefGoogle Scholar
  5. 5.
    Rosier A, Leiberman E, Sack J, et al, 1982 Clinical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Horm Res 16: 133–141.CrossRefGoogle Scholar

Copyright information

© Hellenic Endocrine Society 2016

Authors and Affiliations

  • Banu Sarer Yurekli
    • 1
  • Nilufer Ozdemir Kutbay
    • 1
  • Huseyin Onay
    • 1
  • Ilgin Yildirim Simsir
    • 1
  • Gokcen Unal Kocabas
    • 1
  • Mehmet Erdogan
    • 1
  • Sevki Cetinkalp
    • 1
  • Gokhan Ozgen
    • 1
  • Fusun Saygili
    • 1
  1. 1.Endocrinology DepartmentEge University Faculty of MedicineBornova, IzmirTurkey

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