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Genetics and Pathophysiology of Congenital Adrenal Hyperplasia

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Book cover Adrenal Disorders

Part of the book series: Contemporary Endocrinology ((COE))

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Abstract

The congenital adrenal hyperplasias are a group of autosomal recessive disorder. The most common form is 21-hydroxylase deficiency (21-OHD) associated with mutations in the 21-hydroxylase (CYP21A2) gene. The manifestations of 21-OHD range from the classic forms presenting in the neonatal period to milder forms presenting in adulthood. The pathophysiology is due to loss of function mutations leading to cortisol deficiency, increased ACTH secretion, and subsequent increased adrenal androgen secretion. Optimal care for patients with 21-OHD spans their lifetime with the involvement of pediatric and adult healthcare providers.

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Abbreviations

17-OHP:

17-hydroxyprogesterone

21-OHD:

CAH due to 21-hydroxylase deficiency

ACTH:

Adrenocorticotropic hormone

CAH:

Congenital adrenal hyperplasia

CRH:

Corticotropin-releasing hormone

DHEA:

Dehydroepiandrosterone

DHEAS:

Dehydroepiandrosterone sulfate

NC-21-OHD:

Nonclassic 21-hydroxylase deficiency

SULT2A1:

Steroid sulfotransferase

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  1. Division of Pediatric Endocrinology, Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA

    Selma Feldman Witchel M.D.

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  1. Div of Endocrinology and Bone Diseases, Icahn School of Medicine at Mount Sinai, New York, New York, USA

    Alice C. Levine

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Witchel, S.F. (2018). Genetics and Pathophysiology of Congenital Adrenal Hyperplasia. In: Levine, A. (eds) Adrenal Disorders. Contemporary Endocrinology. Humana Press, Cham. https://doi.org/10.1007/978-3-319-62470-9_5

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