Cited by 2,471Estrogen and related hormone effectsSexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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Estrogen Resistance Caused by a Mutation in the Estrogen-Receptor Gene in a Man

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Smith, Eric P., Boyd, Jeff, Frank, Graeme R., Takahashi, Hiroyuki, Cohen, Robert M., Specker, Bonny, Williams, Timothy C., Lubahn, Dennis B., Korach, Kenneth S.·1994·New England Journal of Medicine

DOI 10.1056/nejm199410203311604

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Abstract

BACKGROUND AND METHODS: Mutations in the estrogen-receptor gene have been thought to be lethal. A 28-year-old man whose estrogen resistance was caused by a disruptive mutation in the estrogen-receptor gene underwent studies of pituitary-gonadal function and bone density and received transdermal estrogen for six months. Estrogen-receptor DNA, extracted from lymphocytes, was evaluated by analysis of single-strand-conformation polymorphisms and by direct sequencing. RESULTS: The patient was tall (204 cm [80.3 in.]) and had incomplete epiphyseal closure, with a history of continued linear growth into adulthood despite otherwise normal pubertal development. He was normally masculinized and had bilateral axillary acanthosis nigricans. Serum estradiol and estrone concentrations were elevated, and serum testosterone concentrations were normal. Serum follicle-stimulating hormone and luteinizing hormone concentrations were increased. Glucose tolerance was impaired, and hyperinsulinemia was present. The bone mineral density of the lumbar spine was 0.745 g per square centimeter, 3.1 SD below the mean for age-matched normal women; there was biochemical evidence of increased bone turnover. The patient had no detectable response to estrogen administration, despite a 10-fold increase in the serum free estradiol concentration. Conformation analysis of his estrogen-receptor gene revealed a variant banding pattern in exon 2. Direct sequencing of exon 2 revealed a cytosine-to-thymine transition at codon 157 of both alleles, resulting in a premature stop codon. The patient's parents were heterozygous carriers of this mutation, and pedigree analysis revealed consanguinity. CONCLUSIONS: Disruption of the estrogen receptor in humans need not be lethal. Estrogen is important for bone maturation and mineralization in men as well as women.

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Authors: Smith, E. P., Boyd, J., Frank, G. R., Takahashi, H., Cohen, R. M., Specker, B., Williams, T. C., Lubahn, D. B., & Korach, K. S.
Affiliations: Cincinnati Children's Hospital Medical Center (US)
National Institutes of Health (US)
University of North Carolina at Chapel Hill (US)
ORCID: Smith, Eric P.
Boyd, Jeff
Takahashi, Hiroyuki
Cohen, Robert M.
Specker, Bonny
Korach, Kenneth S.
Venue: New England Journal of Medicine
Publisher: Massachusetts Medical Society
Published: 1994-10-20
Volume: 331
Issue: 16
Pages: 1056-1061
ISSN: 0028-4793 (ISSN-L)
1533-4406
DOI: 10.1056/nejm199410203311604
OpenAlex: W2321613759
Cited by: 2,471
References: 30
Citations by year: 2026: 18 · 2025: 26 · 2024: 22 · 2023: 32 · 2022: 36 · 2021: 42 · 2020: 49 · 2019: 55 · 2018: 59 · 2017: 60 · 2016: 60 · 2015: 70 · 2014: 76 · 2013: 72 · 2012: 67
FWCI: 35.15
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: New England Journal of Medicine (publishedVersion)
PubMed (publishedVersion)
Funders: National Center for Research Resources (M01RR008084, MO1 RR 08084)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Endocrinology › Estrogen and related hormone effects
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Keywords: estrogen resistance, estrogen receptor gene, estrogen receptor mutations, premature stop codon, pituitary-gonadal function, hyperinsulinemia, impaired glucose tolerance, bone mineral density, bone turnover, epiphyseal closure, consanguinity, transdermal estrogen, tall stature
MeSH terms: Adult, Base Sequence, Codon, Drug Resistance, Estrogens, Humans, Male, Molecular Sequence Data, Mutation, Osteoporosis, Pedigree, Receptors, Estrogen, Polymerase Chain Reaction

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Estrogen Resistance Caused by a Mutation in the Estrogen-Receptor Gene in a Man

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