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Congenital Adrenal Hyperplasia

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Atlas of Genetic Diagnosis and Counseling

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  • Al-Alwan, I., Navarro, O., Daneman, D., et al. (1999). Clinical utility of adrenal ultrasonography in the diagnosis of congenital adrenal hyperplasia. Journal of Pediatrics, 135, 71–75.

    Article  PubMed  CAS  Google Scholar 

  • American Academy of Pediatrics Ad Hoc Writing Committee, 2000–2001. (2000). Technical Report: Congenital adrenal hyperplasia. Pediatrics 106, 1511–1518.

    Google Scholar 

  • Antal, Z., & Zhou, P. (2009). Congenital adrenal hyperplasia: Diagnosis, evaluation, and management. Pediatrics in Review, 30, e49–e57.

    Article  PubMed  Google Scholar 

  • Bose, H. S., Sugawara, T., Strauss, J. F., III, et al. (1996). The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. The New England Journal of Medicine, 355, 1970–1978.

    Google Scholar 

  • Chen, H. (1986). Genetic disorders. In Paul I. Liu (Ed.), Blue book of diagnostic tests (pp. 421–462). Philadelphia, PA: W. B. Saunders.

    Google Scholar 

  • Chertin, B., Hadas-Halpern, I., Fridmans, A., et al. (2000). Transabdominal pelvic sonography in the preoperative evaluation of patients with congenital adrenal hyperplasia. Journal of Clinical Ultrasound, 28, 122–124.

    Article  PubMed  CAS  Google Scholar 

  • Clayton, P. E., Miller, W. L., & Oberfield, S. E. (2002). Concensus statement on 21-hydroxylase deficiency from the European Society of Pediatric Endocrinology and the lawson Wilkins Paediatric Endocrine Society. Hormone Research, 58, 188–195.

    Article  PubMed  CAS  Google Scholar 

  • Cutler, G. B., Jr., & Laue, L. (1990). Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The New England Journal of Medicine, 323, 1806–1813.

    Article  PubMed  Google Scholar 

  • David, M., & Forest, M. G. (1984). Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. Journal of Pediatrics, 105, 799–803.

    Article  PubMed  CAS  Google Scholar 

  • Deaton, M. A., Glorioso, J. E., & Mclean, D. B. (1999). Congenital adrenal hyperplasia: Not really a zebra. American Family Physician, 59, 1190–1196.

    PubMed  CAS  Google Scholar 

  • Deneux, C., Tardy, V., Dib, A., et al. (2001). Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 86, 207–213.

    Article  PubMed  CAS  Google Scholar 

  • Forest, M. G., Morel, Y., & David, M. P. (1998). Prenatal treatment of congenital adrenal hyperplasia. Trends in Endocrinology and Metabolism, 9, 284–289.

    Article  PubMed  CAS  Google Scholar 

  • Garner, P. R. (1998). Congenital adrenal hyperplasia in pregnancy. Seminars in Perinatology, 22, 446–456.

    Article  PubMed  CAS  Google Scholar 

  • Hall, C. M., Jones, J. A., Meyer-Bahlburg, H. F., et al. (2004). Behavioral and physical masculinization are related to genotype in girls with congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 89, 419–424.

    Article  PubMed  CAS  Google Scholar 

  • Hoffman, W. H., Shin, M. Y., Donohoue, P. A., et al. (1996). Phenotypic evolution of classic 21-hydroxylase deficiency. Clinical Endocrinology, 45, 103–109.

    Article  PubMed  CAS  Google Scholar 

  • Hughes, I. A. (1986). Clinical aspects of congenital adrenal hyperplasia: Early diagnosis and prognosis. Journal of Inherited Metabolic Disease, 9(Suppl 1), 115–123.

    Article  PubMed  Google Scholar 

  • Hughes, I. A. (1988). Management of congenital adrenal hyperplasia. Archives of Disease in Childhood, 63, 1399–1404.

    Article  PubMed  CAS  Google Scholar 

  • Hughes, I. A. (2002a). Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy. Seminars in Reproductive Medicine, 20, 229–242.

    Article  PubMed  CAS  Google Scholar 

  • Hughes, I. A. (2002b). Congenital adrenal hyperplasia: Phenotype and genotype. Journal of Pediatric Endocrinology & Metabolism, 15(Suppl 5), 1329–1340.

    CAS  Google Scholar 

  • Hughes, I. A. (2002c). Intersex. BJU International, 90, 769–776.

    Article  PubMed  CAS  Google Scholar 

  • Joint LWPES/ESPE CAH Working Group, Writing Committee. (2002). Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Journal of Clinical Endocrinology Metabolism 87, 4098–4053.

    Google Scholar 

  • Kuttenn, F., Couillin, P., Girard, F., et al. (1985). Late-onset adrenal hyperplasia in hirsutism. The New England Journal of Medicine, 313, 224–231.

    Article  PubMed  CAS  Google Scholar 

  • Lajic, S., Wedell, A., Bui, T. H., et al. (1998). Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia. Trends in Endocrinology and Metabolism, 9, 284–289.

    Article  Google Scholar 

  • Levine, L. S. (2000). Congenital adrenal hyperplasia. Pediatrics in Review, 21, 159–170.

    Article  PubMed  CAS  Google Scholar 

  • Lo, J. C., & Grumbach, M. M. (2001). Pregnancy outcomes in women with congenital virilizing adrenal hyperplasia. Endocrinology and Metabolism Clinics of North America, 30, 207–229.

    Article  PubMed  CAS  Google Scholar 

  • Merke, D. P., & Cutler, G. B. (1997). New approaches to the treatment of congenital adrenal hyperplasia. JAMA, 277, 1073–1076.

    Article  PubMed  CAS  Google Scholar 

  • Meyer-Bahlburg, H. F. (2001). Gender and sexuality in classic congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics of North America, 30, 155–171.

    Article  PubMed  CAS  Google Scholar 

  • Miller, W. L. (1998). Molecular biology of steroid hormone synthesis. Endocrine Reviews, 9, 295–318.

    Article  Google Scholar 

  • Miller, W. L. (1999). Congenital adrenal hyperplasia in the adult patient. Advances in Internal Medicine, 44, 155–173.

    PubMed  CAS  Google Scholar 

  • New, M. I. (1995). Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia). The American Journal of Medicine, 98, 2S–8S.

    Article  PubMed  CAS  Google Scholar 

  • New, M. I. (2001a). Antenatal diagnosis and treatment of congenital adrenal hyperplasia. Current Urology Reports, 2, 11–18.

    Article  PubMed  CAS  Google Scholar 

  • New, M. I. (2001b). Prenatal treatment of congenital adrenal hyperplasia. The United States experience. Endocrinology and Metabolism Clinics of North America, 30, 1–13.

    Article  PubMed  CAS  Google Scholar 

  • New, M. I., Carlson, A., Obeid, J., et al. (2001). Extensive personal experience. Prenatal diagnosis for congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 86, 5651–5657.

    Article  PubMed  CAS  Google Scholar 

  • New, M. I., & Wilson, R. C. (2002). Genetic disorders of the adrenal gland, chapter 84. In D. L. Rimoin, J. M. Connor, R. E. Pyeritz, & B. R. Korf (Eds.), Emery and Rimoin’s principles and practice of medical genetics (4th ed., Vol. 2, pp. 2277–2314).

    Google Scholar 

  • Nimkarn, S., & New, M. I. (2010). 21-hydroxylse deficient congenital adrenal hyperplasia. GeneReviews. Retrieved August 24, 2010. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1171/

  • Pang, S. (1997). Congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics, 26, 853–891.

    Article  PubMed  CAS  Google Scholar 

  • Pang, S., & Shook, M. K. (1997). Current status of neonatal screening for congenital adrenal hyperplasia. Current Opinion in Pediatrics, 9, 419–423.

    Article  PubMed  CAS  Google Scholar 

  • Pang, S., Wallace, M. A., Hofman, L., et al. (1988). Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics, 81, 866–874.

    PubMed  CAS  Google Scholar 

  • Ritzén, E. M. (1998). Prenatal treatment of congenital adrenal hyperplasia: A commentary. Trends in Endocrinology and Metabolism, 9, 293–295.

    Article  PubMed  Google Scholar 

  • Ritzén, E. M. (2001). Prenatal dexamethasone treatment of fetuses at risk for congenital adrenal hyperplasia: Benefits and concerns. Seminars in Neonatology, 6, 357–362.

    Article  PubMed  Google Scholar 

  • Schnitzer, J. J., & Donahoe, P. K. (2001). Surgical treatment of congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics of North America, 30, 137–154.

    Article  PubMed  CAS  Google Scholar 

  • Speiser, P. W. (2001). Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Endocrinology and Metabolism Clinics of North America, 30, 31–59.

    Article  PubMed  CAS  Google Scholar 

  • Speiser, P. W., Dupont, B., Rubinstein, P., et al. (1985). High frequency of nonclassical steroid 21-hydroxylase deficiency. American Journal of Human Genetics, 37, 650–667.

    PubMed  CAS  Google Scholar 

  • Speiser, P. W., & New, M. I. (1994). Prenatal diagnosis and management of congenital adrenal hyperplasia. Clinics in Perinatology, 21, 631–645.

    PubMed  CAS  Google Scholar 

  • Speiser, P. W., & White, P. C. (2003). Congenital adrenal hyperplasia. The New England Journal of Medicine, 349, 776–788.

    Article  PubMed  CAS  Google Scholar 

  • Stikkelbroeck, N. M., Hermus, A. R., Braat, D. D., et al. (2003). Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Obstetrical and Gynecological Survey, 58, 275–284.

    PubMed  Google Scholar 

  • Therrell, B. L. (2001). Newborn screening for congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics, 30, 15–30.

    Article  PubMed  CAS  Google Scholar 

  • Therrell, B. L. J., Berenbaum, S. A., Manter-Kapanke, V., et al. (1998). Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics, 101, 583–590.

    Article  PubMed  Google Scholar 

  • Wedell, A. (1996). Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia. Clinics in Laboratory Medicine, 16, 125–137.

    PubMed  CAS  Google Scholar 

  • Wedell, A. (1998). Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): Implications for diagnosis, prognosis and treatment. Acta Paediatrica, 87, 159–164.

    Article  PubMed  CAS  Google Scholar 

  • White, P. C. (2001). Congenital adrenal hyperplasias. Best Practice & Research. Clinical Endocrinology & Metabolism, 15, 17–41.

    Article  CAS  Google Scholar 

  • White, P. C. (2009). Neonatal screening for congenital adrenal hyperplasia. Nature Review Endocrinology, 5, 490–498.

    Article  PubMed  CAS  Google Scholar 

  • White, P. C., New, M. I., & Dupont, B. (1987a). Congenital adrenal hyperplasia. (first of two parts). The New England Journal of Medicine, 316, 1519–1524.

    Article  PubMed  CAS  Google Scholar 

  • White, P. C., New, M. I., & Dupont, B. (1987b). Congenital adrenal hyperplasia (second of two parts). The New England Journal of Medicine, 316, 1580–1586.

    Article  PubMed  CAS  Google Scholar 

  • White, P. C., & Speiser, P. W. (2000). Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocrine Reviews, 21, 245–291.

    Article  PubMed  CAS  Google Scholar 

  • Wilson, T. (2004). Congenital adrenal hyperplasia. Emedicine. http://www.emedicine.com

  • Woelfle, J., Hoepffner, W., Sippell, W. G., et al. (2002). Complete virilization in congenital adrenal hyperplasia: Clinical course, medical management and disease-related complications. Clinical Endocrinology, 56, 231–238.

    Article  PubMed  CAS  Google Scholar 

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Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Congenital Adrenal Hyperplasia. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_48

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