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Congenital Adrenal Hyperplasia (CAH)

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Encyclopedia of Pathology

Part of the book series: Encyclopedia of Pathology ((EP))

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Definition

Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive inherited disorders affecting steroid biosynthesis. CAH is the most common cause of primary adrenal insufficiency in children. Approximately 95% of cases are due to deficiency of 21-hydroxylase (21-OHD) enzyme encoded by the CYP21 gene (New 2004).

Clinical Features

CAH has been categorized into a classic form, a nonclassic form, and a cryptic form, in which patients are asymptomatic, while having the same biochemical abnormality (Speiser and White 2003). Classic CAH is characterized by adrenal insufficiency with or without aldosterone deficiency, short stature, infertility, and disorders of sexual development with genital ambiguity in girls. Patients with nonclassic CAH often manifest hyperandrogenism (e.g., early pubarche, acne, and hirsutism) or oligomenorrhea/amenorrhea, in the absence of genital ambiguity and cortisol deficiency.

  • Incidence

    The prevalence of CAH and nonclassic CAH is estimated...

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References and Further Reading

  • Duck, S. C. (1981). Malignancy associated with congenital adrenal hyperplasia. The Journal of Pediatrics, 99, 423–424.

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  • El-Maouche, D., Arlt, W., & Merke, D. P. (2017). Congenital adrenal hyperplasia. Lancet, 390, 2194–2210.

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  • Lack, E. E. (Ed.). (2007). Atlas of tumour pathology: tumors of the adrenal gland and extra-adrenal paraganglia (Fascicle 8, series 4). Washington, DC: Armed Forces Institute of Pathology.

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  • New, M. I. (2004). An update of congenital adrenal hyperplasia. Annals of the New York Academy of Sciences, 1038, 14–43.

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

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Author information

Authors and Affiliations

  1. Pathological Anatomy Section, University of Florence, Florence, Italy

    Gioia Di Stefano & Gabriella Nesi

Authors
  1. Gioia Di Stefano
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  2. Gabriella Nesi
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Corresponding author

Correspondence to Gabriella Nesi .

Editor information

Editors and Affiliations

  1. NIJMEGEN, The Netherlands

    J.H.J.M. van Krieken

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Di Stefano, G., Nesi, G. (2020). Congenital Adrenal Hyperplasia (CAH). In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_5239-1

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  • DOI: https://doi.org/10.1007/978-3-319-28845-1_5239-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-28845-1

  • Online ISBN: 978-3-319-28845-1

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