Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.

@article{Smith1994EstrogenRC,
  title={Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.},
  author={E P Smith and Jeff Boyd and Graeme R. Frank and H. Takahashi and Robert M. Cohen and Bonny Specker and Timothy C. Williams and Dennis B. Lubahn and Kenneth S. Korach},
  journal={The New England journal of medicine},
  year={1994},
  volume={331 16},
  pages={
          1056-61
        }
}
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… 
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References

SHOWING 1-10 OF 24 REFERENCES
Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene.
TLDR
Prenatal male and female reproductive tract development can occur in the absence of estradiol receptor-mediated responsiveness, and the uteri and vagina do not respond in the animals with the estrogen receptor gene disruption.
Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.
TLDR
This study shows that some cases of CAIS are explained by an inability to form a functional AR-steroid complex and hence, the AR is unable to activate transcription of genes essential for male sex differentiation during fetal development.
Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.
TLDR
This patient is the first adult to have described the cardinal features of a syndrome of aromatase deficiency, and the results of restriction fragment length polymorphism analysis and direct sequencing of the amplified exon X DNA from the patient's mother indicate maternal inheritance of the R435C mutation.
Genomic organization of the human oestrogen receptor gene.
TLDR
It is shown that the human ER gene is greater than 140 kb in length, split into eight exons and that the positions of these introns have been highly conserved when compared with the chicken progesterone receptor and are remarkably similar to those of one of the chicken thyroid hormone receptor genes.
Analysis of oncogene alterations in human endometrial carcinoma: Prevalence of ras mutations
TLDR
The data suggest that the amplification or overexpression of several proto‐oncogenes frequently observed in other human gynecologic and breast tumors are not prevalent in endometrial carcinoma and that ras gene mutations are relatively common in this tumor type.
A comparison of androgen status in patients with prostatic cancer treated with oral and/or parenteral estrogens or by orchidectomy
TLDR
Both estrogen treatment regimens were as effective as orchidectomy in reducing circulating levels of T and A‐4 and the more pronounced effects of oral estrogens on circulating adrenal androgens may reflect an altered liver metabolism associated with this route of administration.
Osteopenia in men with a history of delayed puberty.
TLDR
It is suggested that the timing of puberty is an important determinant of peak bone density in men, and men in whom puberty was delayed may be at increased risk for osteoporotic fractures when they are older.
Osteoporosis and decline of gonadal function in the elderly male.
TLDR
Like in women, decline of gonadic function determines an increased bone resorption in men too, and a positive linear correlation is evident between PCA and testosterone, androstenedione and estrone plasma levels.
Origin of estrogen in normal men and in women with testicular feminization.
The purpose of this study was to quantify the various sources of estrone (E1) and 17 beta-estradiol (E2) production in normal men and in women with testicular feminization. The mean production rate
...
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