The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations (Q28374323)

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1 November 2019

title

The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations (English)

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1 November 2019

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Héctor Escobar Morreale

1

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1 November 2019

author name string

J L San Millán

2

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1 November 2019

R R Smith

3

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1 November 2019

J Sancho

4

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1 November 2019

S F Witchel

5

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1 November 2019

language of work or name

English

0 references

publication date

1 October 1999

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1 November 2019

published in

Fertility and Sterility

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1 November 2019

volume

72

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1 November 2019

page(s)

629-638

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1 November 2019

issue

4

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Clinical review 56: Nonclassic adrenal hyperplasia: current concepts

1 November 2019

cites work

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Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests

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ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism

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Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia

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Lack of an ovarian function influence on the increased adrenal androgen secretion present in women with functional ovarian hyperandrogenism

7 January 2021

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Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.

7 January 2021

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Molecular abnormalities of the 21-hydroxylase gene in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation

7 January 2021

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Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women

7 January 2021

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Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne

7 January 2021

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Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency

7 January 2021

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Clinical assessment of body hair growth in women

7 January 2021

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Mild adrenal and ovarian steroidogenic abnormalities in hirsute women without hyperandrogenemia: does idiopathic hirsutism exist?

7 January 2021

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Circulating leptin concentrations in women with hirsutism.

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Abnormalities in the serum insulin-like growth factor-1 axis in women with hyperandrogenism.

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Analysis of steroid 21-hydroxylase gene mutations in the Spanish population

7 January 2021

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Molecular diagnosis of 21-hydroxylase deficiency: detection of four mutations on a single gel

7 January 2021

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Newborn screening for 21-hydroxylase deficiency: results of CYP21 molecular genetic analysis

7 January 2021

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Abnormalities of 21-hydroxylase gene ratio and adrenal steroidogenesis in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to acute adrenal stimulation

7 January 2021

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Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms

7 January 2021

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Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively

7 January 2021

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The molecular basis of genetic dominance

7 January 2021

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A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy

7 January 2021

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Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis

7 January 2021

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Regulation of the activities of 17-hydroxylase and 17,20-desmolase in the human adrenal cortex: kinetic analysis and inhibition by endogenous steroids.

7 January 2021

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Intraadrenal steroid concentrations in man: zonal differences and developmental changes

7 January 2021

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Regulation of 21-hydroxylase activity by steroids

7 January 2021

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Ovarian suppression with triptorelin and adrenal stimulation with adrenocorticotropin in functional hyperadrogenism: role of adrenal and ovarian cytochrome P450c17 alpha

7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0015-0282(99)00317-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521100%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference