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A rare cause of hypertension in a healthy 2-year-old female: Answers

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References

  1. Zuber MX, Simpson ER, Waterman MR (1986) Expression of bovine 17 alpha-hydroxylase cytochrome P-450 cDNA in nonsteroidogenic (COS 1) cells. Science 234:1258–1261

    Article  PubMed  CAS  Google Scholar 

  2. Biglieri EG (1979) Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome. J Steroid Biochem 11:653–657

    Article  PubMed  CAS  Google Scholar 

  3. Wang W, Fu JF, Gong FQ, Zhu WH, Shen Z (2011) Rare hypertension as a result of 17alpha-hydroxylase deficiency. J Pediatr Endocrinol Metab 24:333–337

    Article  PubMed  Google Scholar 

  4. Krone N, Arlt W (2009) Genetics of congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab 23:181–192

    Article  PubMed  CAS  Google Scholar 

  5. Costa-Santos M, Kater CE, Auchus RJ, Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group (2004) Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab 89:49–60

    Article  PubMed  CAS  Google Scholar 

  6. Yanase T (1995) 17 alpha-Hydroxylase/17,20-lyase defects. J Steroid Biochem Mol Biol 53:153–157

    Article  PubMed  CAS  Google Scholar 

  7. Morimoto I, Maeda R, Izumi M, Ishimaru T, Nishimori I, Nagataki S (1983) An autopsy case of 17 alpha-hydroxylase deficiency with malignant hypertension. J Clin Endocrinol Metab 56:915–919

    Article  PubMed  CAS  Google Scholar 

  8. Rovner DR, Conn JW, Cohen EL, Berlinger FG, Kem DC, Gordon DL (1979) 17 alpha-Hydroxylase deficiency. A combination of hydroxylation defect and reversible blockade in aldosterone biosynthesis. Acta Endocrinol (Copenh) 90:490

    CAS  Google Scholar 

  9. Monno S, Takasu N (1989) A new variant of 17 alpha-hydroxylase deficiency with hyperaldosteronism in two Japanese sisters. Endocrinol Jpn 36:315–323

    Article  PubMed  CAS  Google Scholar 

  10. Yanase T, Simpson ER, Waterman MR (1991) 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev 12:91–108

    Article  PubMed  CAS  Google Scholar 

  11. White PC (2001) Steroid 11 beta-hydroxylase deficiency and related disorders. Endocrinol Metab Clin North Am 30:61–79

    Article  PubMed  CAS  Google Scholar 

  12. Mita T, Shimamoto K, Ura N, Nakao T, Aoki K, Nakagawa M, Tsuzuki M, Yamazaki K, Tanaka S, Iimura O (1983) A case of 17 alpha-hydroxylase deficiency with special reference to the renal kallikrein-kinin system. Endocrinol Jpn 30:763–767

    Article  PubMed  CAS  Google Scholar 

  13. Singhellakis PN, Panidis D, Papadimas J, Demertzi H, Tsourdis A, Sotsiou F, Ikkos DG (1986) Spontaneous sexual development and menarche in a female with 17 alpha-hydroxylase deficiency. J Endocrinol Invest 9:177–183

    PubMed  CAS  Google Scholar 

  14. Auchus RJ (2001) The genetics, pathophysiology, and management of human deficiencies of P450c17. Endocrinol Metab Clin North Am 30:101–119

    Article  PubMed  CAS  Google Scholar 

  15. Mantero F, Opocher G, Rocco S, Carpenè G, Armanini D (1995) Long-term treatment of mineralocorticoid excess syndromes. Steroids 60:81–86

    Article  PubMed  CAS  Google Scholar 

  16. Wong SL, Shu SG, Tsai CR (2006) Seventeen alpha-hydroxylase deficiency. J Formos Med Assoc 105:177–181

    Article  PubMed  CAS  Google Scholar 

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Acknowledgement

The authors wish to thank Dr. JP Chanoine for his review of the manuscript.

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Authors and Affiliations

  1. Department of Pediatrics, University of British Columbia, Vancouver, Canada

    Danya A. Fox

  2. Department of Pediatrics, Division of Nephrology, University of British Columbia, Vancouver, Canada

    Douglas G. Matsell & Cherry Mammen

  3. Department of Pediatrics, Division of Endocrinology, University of British Columbia, Vancouver, Canada

    Brenden E. Hursh

Authors
  1. Danya A. Fox
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  2. Douglas G. Matsell
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  3. Brenden E. Hursh
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  4. Cherry Mammen
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Corresponding author

Correspondence to Danya A. Fox.

Additional information

This article refers to the article that can be found at http://dx.doi.org/10.1007/s00467-012-2161-5.

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Fox, D.A., Matsell, D.G., Hursh, B.E. et al. A rare cause of hypertension in a healthy 2-year-old female: Answers. Pediatr Nephrol 27, 2055–2057 (2012). https://doi.org/10.1007/s00467-012-2164-2

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  • DOI: https://doi.org/10.1007/s00467-012-2164-2

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