Genetic Conditions > 21-hydroxylase deficiency >

References

These sources were used to develop the Genetics Home Reference condition summary on 21-hydroxylase deficiency.

Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Tardy V, Billaud L, Laborde K, Coussieu C, Morel Y, Vaury C, Golmard JL, Claustre A, Mornet E, Chakhtoura Z, Mowszowicz I, Bachelot A, Touraine P, Kuttenn F. Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. J Clin Endocrinol Metab. 2009 May;94(5):1570-8. doi: 10.1210/jc.2008-1582. Epub 2009 Feb 10. PubMed citation
Charmandari E, Brook CG, Hindmarsh PC. Classic congenital adrenal hyperplasia and puberty. Eur J Endocrinol. 2004 Nov;151 Suppl 3:U77-82. Review. PubMed citation
Forest MG. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod Update. 2004 Nov-Dec;10(6):469-85. Review. PubMed citation
Glatt K, Garzon DL, Popovic J. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Spec Pediatr Nurs. 2005 Jul-Sep;10(3):104-14. Review. PubMed citation
Huynh T, McGown I, Cowley D, Nyunt O, Leong GM, Harris M, Cotterill AM. The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clin Biochem Rev. 2009 May;30(2):75-86. PubMed citation
Joint LWPES/ESPE CAH Working Group.. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab. 2002 Sep;87(9):4048-53. Review. PubMed citation
Kruse B, Riepe FG, Krone N, Bosinski HA, Kloehn S, Partsch CJ, Sippell WG, Mönig H. Congenital adrenal hyperplasia - how to improve the transition from adolescence to adult life. Exp Clin Endocrinol Diabetes. 2004 Jul;112(7):343-55. Review. PubMed citation
New MI. An update of congenital adrenal hyperplasia. Ann N Y Acad Sci. 2004 Dec;1038:14-43. PubMed citation
Nimkarn S, Lin-Su K, New MI. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2009 Dec;38(4):699-718. doi: 10.1016/j.ecl.2009.08.001. Review. PubMed citation


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