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Cited by 158Sexual Differentiation and DisordersAdrenal Hormones and DisordersHormonal Regulation and Hypertension

Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Morel, Yves, Miller, Walter L.·1991·Advances in Human Genetics
DOI 10.1007/978-1-4684-5958-6_1
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Crossref · 10.1007/978-1-4684-5958-6_1

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  • 17-hydroxypregnenolone also accumulates and is readily converted to DHEA, and subsequently to androstenedione and testosterone, resulting in severe prenatal virilization of female fetuses.

    “However, 17-hydroxypregnenolone also accumulates and is readily converted to DHEA, and subsequently to androstenedione and testosterone, resulting in severe prenatal virilization of female fetuses (350 -354).”

    From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [351]

  • 21-Hydroxylase deficiency, caused by mutations in P450c21, is the most common form of CAH and one of the most common inborn errors of metabolism.

    “21-Hydroxylase deficiency, caused by mutations in P450c21, is the most common form of CAH and one of the most common inborn errors of metabolism.”

    From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [351]

  • Most apparent point mutations in CYP21A2 are actually small gene conversion events, so that gene conversions account for about 85% of the lesions in 21-hydroxylase deficiency.

    “Most apparent point mutations in CYP21A2 are actually small gene conversion events (350, 351, 426), so that gene conversions account for about 85% of the lesions in 21-hydroxylase deficiency.”

    From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [351]

  • Combining multiple studies shows that about 19% of mutant alleles have gene deletions, 8% have large gene conversions, 67% have microconversions, and 6% have uncharacterized lesions.

    “Combining multiple studies shows that about 19% of mutant alleles have gene deletions, 8% have large gene conversions, 67% have microconversions, and 6% have uncharacterized lesions (351) (Fig. 10).”

    From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [351]

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Authors
Morel, Y., & Miller, W. L.
Affiliations
  • Inserm (FR)
  • University of California, San Francisco (US)
ORCID
Venue
Advances in Human Genetics
Publisher
Springer US
Published
1991
Volume
20
Pages
1-68
DOI
10.1007/978-1-4684-5958-6_1
OpenAlex
W127526507
Cited by
158
References
38
Citations by year
2024: 1 · 2023: 1 · 2021: 2 · 2020: 1 · 2019: 1 · 2018: 2 · 2017: 1 · 2016: 1 · 2015: 3 · 2014: 4 · 2013: 1 · 2012: 5
FWCI
4.69
Type
book chapter
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Springer eBooks (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health (5r01dk042154-09)
  • National Institute of Diabetes and Digestive and Kidney Diseases (DK-37922, DK 42154, R01DK037922)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
Keywords
congenital adrenal hyperplasia, 21-hydroxylase deficiency, steroidogenesis, steroidogenic enzymes, mineralocorticoids, glucocorticoids, adrenal androgens, virilism, electrolyte balance
MeSH terms
Adrenal Glands, Adrenal Hyperplasia, Congenital, Amniocentesis, Amniotic Fluid, Cholesterol, Chromosome Mapping, Chromosomes, Human, Pair 6, Complement C4, Cytochrome P-450 Enzyme System, Dexamethasone, Gene Conversion, HLA Antigens, Humans, Hydroxyprogesterones, Mutation, Phenotype, Steroid 21-Hydroxylase, Blotting, Southern, 17-alpha-Hydroxyprogesterone

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