Maria I New, Weill Medical College of Cornell University, New York, USA
Published online: May 2003
DOI: 10.1038/npg.els.0002261
Congenital adrenal hyperplasia is a family of treatable disorders whose common feature is impaired cortisol synthesis, most often due to an enzymatic defect. In some forms, a build-up of steroids in the pathway prior to the defective enzyme leads to an overproduction of androgens and virilization of an affected female fetus.
Keywords: congenital adrenal hyperplasia; 21-hydroxylase; ambiguous genitalia; prenatal diagnosis and treatment
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Figure 1. Feedback in the hypothalamic–pituitary–adrenal axis of a normal individual.
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Figure 2. Simplified scheme of steroid hormone production in (a) a normal adrenal gland and (b) an adrenal gland in an individual with congenital adrenal hyperplasia (CAH). ACTH, adrenocorticotrophic hormone.
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Figure 3. (a) Ambiguous genitalia in a newborn female with 21-hydroxylase deficiency, compared with her affected sister (b) who was treated prenatally and accordingly has normal external genitalia. (Reprinted from Prader A (1954) Der genitalbefund beim pseudohermaphroditismus femininus der kengenitalen adrenogenitalen syndroms. Helvetica Paediatrica Acta 9: 231–248, with permission from Springer-Verlag GmbH & Co KG.)
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Figure 4. Algorithm depicting prenatal management of pregnancy in families at risk for a fetus with 21-hydroxylase deficiency. hCG, human chorionic gonadotrophin; GA, gestational age; DNA, deoxyribonucleic acid. (Reprinted from Mercado, Wilson RC, Cheng KC, et al. (1995) Extensive personal experience: Prenatal treatment and diagnosis of congenital and adrenal hyperplasia owing to steroid 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism 80(7): 2014–2020, by courtesy of The Endocrine Society.)
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| Further Reading | |
| Cabrera M, Vogiatzi M and New MI (2001) Long term outcome in adult males with congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism 86(7): 3070–3078. | |
| Gmyrek GA, New MI, Sosa RE and Poppas DP (2002) Bilateral laparoscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency. Pediatrics 109(2): E28. | |
| Mercado AB, Wilson RC, Cheng KC, Wei J-Q and New MI (1995) Extensive personal experience: prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism 80: 2014–2020. | |
| Meyer-Bahlburg HFL, Gruen RS, New MI, et al. (1996) Gender change from female to male in classical congenital adrenal hyperplasia. Hormones and Behavior 30: 319–332. | |
| book Meyer-Bahlburg HFL, Gidwani S, Dittmann RW, et al. (2000) "Psychosexual quality of life in adult intersexuality: the example of congenital adrenal hyperplasia". In: Stabler B and Bercu BB (eds) Therapeutic Outcome of Endocrine Disorders: Efficacy, Innovation and Quality of Life, pp. 200–208. New York: Springer. | |
| Nass R, Heier L, Moshang T et al. (1997) Magnetic resonance imaging in the congenital adrenal hyperplasia population: increased frequency of white-matter abnormalities and temporal lobe atrophy. Journal of Child Neurology 12: 181–186. | |
| New MI (1994) Congenital adrenal hyperplasia. Frontiers in Endocrinology 7: 55–74. | |
| proceedings New MI (1996) Infertility and androgen excess in nonclassical 21-hydroxylase deficiency. Proceedings of Symposium on ‘The Ovary: Regulation, Dysfunction and Treatment’, Florida, 25–27 January 1996. Excerpta Medica International Congress Series 1106, pp. 195–198. | |
| book New MI and Josso N (1996) "Disorders of sexual differentiation". In: Claude Bennett J and Plum F (eds) Cecil Textbook of Medicine, 20th edn, pp. 1284–1293. Philadelphia: WB Saunders. | |
| book New MI and Newfield RS (1997) "Congenital adrenal hyperplasia". In: Bardin CW (ed). Current Therapy in Endocrinology and Metabolism, 6th edn, pp. 179–187. Philadelphia: Mosby-Year Book. | |
| book New MI, Crawford C and Wilson RC (1996) "Genetic disorders of the adrenal gland". In: Rimoin DL, Connor JM and Pyeritz RE (eds) Principles and Practice of Medical Genetics, 3rd edn, pp. 1441–1476. New York: Churchill Livingstone. | |
| New MI, Carlson A, Obeid J, et al. (2001) Update on prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. Journal of Clinical Endocrinology and Metabolism 86(12): 5651–5657. | |
| Nimkarn S, Cerame BI, Wei J-Q, et al. (1999) Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations. Journal of Clinical Endocrinology and Metabolism 84: 378–381. | |
| Quintos JBQ, Vogiatzi MG, Harbison MD and New MI (2001) Growth hormone therapy alone or in combination with GnRH analogue therapy to improve the height deficit in children with CAH. Journal of Clinical Endocrinology and Metabolism, 86(4): 1511–1517. | |
| Speiser PW, Heier L, Serrat J, New MI and Nass R (1995) Failure of steroid replacement to consistently normalize pituitary function in congenital adrenal hyperplasia: hormonal and MRI data. Hormone Research 44: 241–246. | |
| VanWyk JJ, Gunther DF, Ritzen M, et al. (1996) The use of adrenalectomy as a treatment for congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism 81: 3180–3182. | |
| book Wajnrajch MP and New MI (1998) "Disorders of the adrenal gland". In: Burg FD, Ingelfinger JR, Polin RA and Wald ER (eds) Current Pediatric Therapy 16, pp. 744–753. Philadelphia: WB Saunders. | |
| book Wajnrajch MP and New MI (2001) "Defects of adrenal steroidogenesis". In: DeGroot LJ and Jameson JL (eds) Endocrinology, 4th edn, pp. 1721–1739. Philadelphia: WB Saunders. | |
| White PC, Tusie-Luna MT, New MI and Speiser PW (1994) Mutations in steroid 21-hydroxylase (CYP21). Human Mutation 3: 373–378. | |
| book Wilson RC and New MI (1998) "Congenital adrenal hyperplasia". In: Jameson JL (ed.) Principles of Molecular Medicine, pp. 481–493. Totowa: Humana Press. | |
| Wilson RC, Mercado AB, Cheng KC and New MI (1995) Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. Journal of Clinical Endocrinology and Metabolism 80: 2322–2329. | |
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