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Female Pseudohermaphroditism in 21-Hydroxylase Deficiency

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Gynecologic Endocrinology

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Abstract

Congenital adrenal hyperplasia (CAH) is a family of inherited disorders of adrenal steroidogenesis. Each of these disorders has a characteristic pattern of hormonal abnormalities caused by an inherited deficiency of one of the several enzymes necessary for normal steroid synthesis. The most common form of CAH is caused by a deficiency of the 21-hydroxylase enzyme. Virilization is the foremost clinical symptom of 21-hydroxylase deficiency, as was first documented by the Neapolitan anatomist DeCrecchio in 1865.1 Since his report, numerous investigators have unravelled the mechanism of adrenal steroid synthesis and the associated enzyme defects responsible for CAH. A brief review of the mechanism and regulation of adrenal steroidogenesis is given below to aid in the understanding of the pathophysiology of CAH.

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Authors and Affiliations

  1. Department of Pediatrics, Division of Pediatric Endocrinology, Pediatric Clinical Research Center, The New York Hospital-Cornell Medical Center, 10021, New York, New York, USA

    Maria I. New

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  1. Maria I. New
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Editor information

Editors and Affiliations

  1. University of Illinois College of Medicine, Chicago, Illinois, USA

    Jay J. Gold M.D., F.A.C.P (Clinical Professor of Medicine and Adjunct Professor of Obstetrics and Gynecology) (Clinical Professor of Medicine and Adjunct Professor of Obstetrics and Gynecology)

  2. Department of Obstetrics and Gynecology, UMDNJ-New Jersey Medical School, Newark, New Jersey, USA

    John B. Josimovich M.D. (Professor and Vice-Chairman) (Professor and Vice-Chairman)

  3. Department of Pathology, UMDNJ-New Jersey Medical School, Newark, New Jersey, USA

    John B. Josimovich M.D. (Professor and Vice-Chairman) (Professor and Vice-Chairman)

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© 1987 Plenum Publishing Corporation

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New, M.I. (1987). Female Pseudohermaphroditism in 21-Hydroxylase Deficiency. In: Gold, J.J., Josimovich, J.B. (eds) Gynecologic Endocrinology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-2157-6_15

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  • DOI: https://doi.org/10.1007/978-1-4613-2157-6_15

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4612-9272-2

  • Online ISBN: 978-1-4613-2157-6

  • eBook Packages: Springer Book Archive

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