A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome

Melissa Kahsar-Miller, Ricardo Azziz, Eleanor Feingold, Selma F. Witchel

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Objective: To determine whether the frequency of the N363S variant of the glucocorticoid receptor (GRL) was increased in women with PCOS and adrenal androgen (AA) excess. Design: Prospective case-control study. Setting: University reproductive endocrinology laboratory and outpatient clinic. Patient(s): Consecutive patients of non-Hispanic white race diagnosed with PCOS (n = 114) and healthy controls (n = 92). Intervention(s): Blood and DNA sampling before hormonal therapy. Main Outcome Measure(s): PCOS patient and healthy control genotypes, with the N363S allele representing a variant of GRL. Result(s): Fifty-four PCOS patients with (DHEAS ≥ 3000 ng/mL) and 55 without (DHEAS ≤ 2,500 ng/mL) AA excess, respectively, were studied. Six of 109 (5.5%) patients studied were found to be heterozygous carriers of the A→G base pair substitution at cDNA position 1220, resulting in the missense mutation N363S. Of these six, four had excessive AA secretion (i.e., excess DHEAS levels). There was no significant difference in the allele frequency of the GRL variant between PCOS patients with and without AA excess and controls (3.7% [95% confidence interval: 1.0%-5.7%], 1.8% [0.2%-6.0%], and 3.3% [2.3%-6.0%]). None of the subjects were found to be homozygous for the N363S allele. Conclusion(s): The N363S variant of GRL was an uncommon occurrence in our population of healthy women and PCOS patients and did not appear to play a major role in the genetic predisposition to PCOS or to AA excess in PCOS. Copyright (C) 2000 American Society for Reproductive Medicine.

Original languageEnglish (US)
Pages (from-to)1237-1240
Number of pages4
JournalFertility and sterility
Volume74
Issue number6
DOIs
StatePublished - Dec 28 2000

Fingerprint

Polycystic Ovary Syndrome
Glucocorticoid Receptors
Androgens
Genes
Alleles
Endocrinology
Missense Mutation
Genetic Predisposition to Disease
Ambulatory Care Facilities
Gene Frequency
Base Pairing
Case-Control Studies
Complementary DNA
Genotype
Outcome Assessment (Health Care)
Confidence Intervals
DNA
Population

Keywords

  • Adrenal
  • Androgen
  • Genetics
  • Glucocorticoid receptor
  • Hirsutism
  • Polycystic ovary syndrome

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

Cite this

A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome. / Kahsar-Miller, Melissa; Azziz, Ricardo; Feingold, Eleanor; Witchel, Selma F.

In: Fertility and sterility, Vol. 74, No. 6, 28.12.2000, p. 1237-1240.

Research output: Contribution to journalArticle

Kahsar-Miller, Melissa ; Azziz, Ricardo ; Feingold, Eleanor ; Witchel, Selma F. / A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome. In: Fertility and sterility. 2000 ; Vol. 74, No. 6. pp. 1237-1240.
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abstract = "Objective: To determine whether the frequency of the N363S variant of the glucocorticoid receptor (GRL) was increased in women with PCOS and adrenal androgen (AA) excess. Design: Prospective case-control study. Setting: University reproductive endocrinology laboratory and outpatient clinic. Patient(s): Consecutive patients of non-Hispanic white race diagnosed with PCOS (n = 114) and healthy controls (n = 92). Intervention(s): Blood and DNA sampling before hormonal therapy. Main Outcome Measure(s): PCOS patient and healthy control genotypes, with the N363S allele representing a variant of GRL. Result(s): Fifty-four PCOS patients with (DHEAS ≥ 3000 ng/mL) and 55 without (DHEAS ≤ 2,500 ng/mL) AA excess, respectively, were studied. Six of 109 (5.5{\%}) patients studied were found to be heterozygous carriers of the A→G base pair substitution at cDNA position 1220, resulting in the missense mutation N363S. Of these six, four had excessive AA secretion (i.e., excess DHEAS levels). There was no significant difference in the allele frequency of the GRL variant between PCOS patients with and without AA excess and controls (3.7{\%} [95{\%} confidence interval: 1.0{\%}-5.7{\%}], 1.8{\%} [0.2{\%}-6.0{\%}], and 3.3{\%} [2.3{\%}-6.0{\%}]). None of the subjects were found to be homozygous for the N363S allele. Conclusion(s): The N363S variant of GRL was an uncommon occurrence in our population of healthy women and PCOS patients and did not appear to play a major role in the genetic predisposition to PCOS or to AA excess in PCOS. Copyright (C) 2000 American Society for Reproductive Medicine.",
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AU - Witchel, Selma F.

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AB - Objective: To determine whether the frequency of the N363S variant of the glucocorticoid receptor (GRL) was increased in women with PCOS and adrenal androgen (AA) excess. Design: Prospective case-control study. Setting: University reproductive endocrinology laboratory and outpatient clinic. Patient(s): Consecutive patients of non-Hispanic white race diagnosed with PCOS (n = 114) and healthy controls (n = 92). Intervention(s): Blood and DNA sampling before hormonal therapy. Main Outcome Measure(s): PCOS patient and healthy control genotypes, with the N363S allele representing a variant of GRL. Result(s): Fifty-four PCOS patients with (DHEAS ≥ 3000 ng/mL) and 55 without (DHEAS ≤ 2,500 ng/mL) AA excess, respectively, were studied. Six of 109 (5.5%) patients studied were found to be heterozygous carriers of the A→G base pair substitution at cDNA position 1220, resulting in the missense mutation N363S. Of these six, four had excessive AA secretion (i.e., excess DHEAS levels). There was no significant difference in the allele frequency of the GRL variant between PCOS patients with and without AA excess and controls (3.7% [95% confidence interval: 1.0%-5.7%], 1.8% [0.2%-6.0%], and 3.3% [2.3%-6.0%]). None of the subjects were found to be homozygous for the N363S allele. Conclusion(s): The N363S variant of GRL was an uncommon occurrence in our population of healthy women and PCOS patients and did not appear to play a major role in the genetic predisposition to PCOS or to AA excess in PCOS. Copyright (C) 2000 American Society for Reproductive Medicine.

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KW - Hirsutism

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