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Congenital Adrenal Hyperplasia

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Abstract

Congenital adrenal hyperplasia (CAH) refers to a family of inherited disorders of adrenal steroidogenesis. The common functional defect in each disorder is impaired cortisol secretion, resulting in hypersecretion of corticotropin-releasing hormone (CRH) and adrenocorticotropic hormone (ACTH) and consequent hyperplasia of the adrenal glands (Antal and Zhou 2009).

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References

  • 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  CAS  PubMed  Google Scholar 

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

    Article  Google Scholar 

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

    Article  PubMed  Google Scholar 

  • Baumgartner-Parzer, S. M., Nowotny, P., Heinze, G., et al. (2005). Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population. Journal of Clinical Endocrinology and Metabolism, 90, 775–778.

    Article  CAS  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 

  • 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  CAS  PubMed  Google Scholar 

  • Clayton, P. E., Miller, W. L., & Oberfield, S. E. (2002). Consensus 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  CAS  PubMed  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  CAS  PubMed  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.

    CAS  PubMed  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  CAS  PubMed  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  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  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  CAS  PubMed  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  CAS  PubMed  PubMed Central  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  CAS  PubMed  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  CAS  PubMed  Google Scholar 

  • Joint LWPES/ESPE CAH Working Group. (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, 4048–4053.

    Article  Google Scholar 

  • Khattab, A., Yuen, T., Sun, L., et al. (2016). Noninvasive prenatal diagnosis of congenital adrenal hyperplasia. Endocrine Development, 30, 37–41.

    Article  PubMed  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  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  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  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  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  CAS  PubMed  Google Scholar 

  • Miller, W. L. (1988). Molecular biology of steroid hormone synthesis. Endocrine Reviews, 9, 295–318.

    Article  CAS  PubMed  Google Scholar 

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

    CAS  PubMed  Google Scholar 

  • Moran, C., Azziz, R., Weintrob, N., et al. (2006). Reproductive outcome of women with 21- hydroxylase-deficient nonclassic adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 91, 3451–3456.

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  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  CAS  PubMed  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), Churchill Livingstone, London.

    Google Scholar 

  • New, M. I., Carlson, A., Obeid, J., et al. (2001). Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. Journal of Clinical Endocrinology and Metabolism, 86, 5651–5657.

    Article  CAS  PubMed  Google Scholar 

  • Nimkarn, S., & New, M. I. (2013). 21-hydroxylse deficient congenital adrenal hyperplasia. GeneReviews. Updated 29 Aug 2013. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1171/

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

    Article  CAS  PubMed  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  CAS  PubMed  Google Scholar 

  • Purandare, A., Godil, M. A., Prakash, D., et al. (2001). Spontaneous adrenal hemorrhage associated with transient antiphospholipid antibody in a child. Clinical Pediatrics (Phila), 40, 347–350.

    Article  CAS  Google Scholar 

  • Reichman, D. E., White, P. C., New, M. I., et al. (2014). Fertility in patients with congenital adrenal hyperplasia. Fertility and Sterility, 101, 301–309.

    Article  CAS  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  CAS  PubMed  Google Scholar 

  • Sherman, S. L., Aston, C. E., Morton, N. E., et al. (1988). A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency. American Journal of Human Genetics, 42, 830–838.

    CAS  PubMed  PubMed Central  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  CAS  PubMed  Google Scholar 

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

    CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  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  CAS  PubMed  Google Scholar 

  • Turcu, A. F., & Auchus, R. J. (2015). Adrenal steroidogenesis and congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics of North America, 44, 275–296.

    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.

    CAS  PubMed  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  CAS  PubMed  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  CAS  Google Scholar 

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

    CAS  PubMed  Google Scholar 

  • Wichel, S. F. (2013). Non-classic congenital adrenal hyperplasia. Steroids, 78, 747–750.

    Article  Google Scholar 

  • Wilson, T. (2015). Congenital adrenal hyperplasia. Updated 3 Sept 2015. Available at: http://emedicine.medscape.com/article/919218-overview

  • 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  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

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

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2016). Congenital Adrenal Hyperplasia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_48-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_48-2

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  • Online ISBN: 978-1-4614-6430-3

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