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Cited by 6Sexual Differentiation and DisordersHormonal Regulation and HypertensionAdrenal Hormones and Disorders

Congenital Adrenal Hyperplasia Owing to 11β-Hydroxylase Deficiency

White, Perrin C.·2011·Advances in Experimental Medicine and Biology
DOI 10.1007/978-1-4419-8002-1_2
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Crossref · 10.1007/978-1-4419-8002-1_2

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  • Severe mutations in CYP17A1 impair adrenal and gonadal sex steroid production, which causes sexual infantilism and pubertal failure.

    “Due to its location in the steroidogenic pathway, severe mutations impair adrenal and gonadal sex steroid production (Figure 2D), which causes sexual infantilism and pubertal failure (Table 2).31”

    From Congenital adrenal hyperplasia (2017) · cites this paper as [31]

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Authors
White, P. C.
Affiliations
The University of Texas Southwestern Medical Center (US)
Corresponding author
White, Perrin C.
ORCID
White, Perrin C.
Venue
Advances in Experimental Medicine and Biology
Publisher
Springer New York
Published
2011
Volume
707
Pages
7-8
ISSN
0065-2598 (ISSN-L)
DOI
10.1007/978-1-4419-8002-1_2
OpenAlex
W2188170891
Cited by
6
References
0
Citations by year
2021: 1 · 2020: 1 · 2017: 2 · 2015: 1 · 2012: 1
FWCI
0.42
Type
book chapter
Language
en
Open access
closed
Licence
Locations
  • Advances in experimental medicine and biology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Keywords
congenital adrenal hyperplasia, 11beta-hydroxylase deficiency, CYP11B1, aldosterone synthase deficiency, CYP11B2, cortisol production, aldosterone biosynthesis, ACTH regulation, angiotensin II, recessive disorders
MeSH terms
Adrenal Cortex Hormones, Adrenal Hyperplasia, Congenital, Female, Humans, Male, Mutation, Steroid 11-beta-Hydroxylase

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