Abstract:
:The cytoplasm of skin fibroblasts serially subcultured from the labium majus of normal human females binds 5alpha-dihydrotestosterone (5alpha-DHT) with high affinity and low capacity. Such binding was absent from the strains of two male pseudohermaphrodites with unambiguous female external genitalia: one of these was from a patient with the clinical features and a family history typical of complete testicular feminization; the other merited the same diagnosis on anatomic and endocrine grounds, but had an XYY karyotype in multiple tissues, including the testes. Normal cytoplasmic binding was found in strains from two prepubertal male pseudohermaphrodites with bilateral inguinal testes: one had unambiguous female external genitalia, the other had clitoromegaly; the former had normal specific nuclear binding of 5alpha-DHT, and thereby the target cell capacity for pubertal masculinization. Measurement of specific 5alpha-DHT binding by cultured labial skin fibroblasts should be an early step in the investigation of male pseudohermaphroditism with female external genitalia.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Kaufman M,Straisfeld C,Pinsky Ldoi
10.1111/j.1399-0004.1976.tb01614.xsubject
Has Abstractpub_date
1976-06-01 00:00:00pages
567-74issue
6eissn
0009-9163issn
1399-0004journal_volume
9pub_type
杂志文章abstract::An allele association study of 19 polymorphisms in surfactant proteins SP-A1, SP-A2, SP-B, and SP-D genes in acute respiratory distress syndrome (ARDS) was carried out. Trend-test analysis revealed differences (p < 0.05) in the frequency of alleles for some of the microsatellite markers flanking SP-B, and for one poly...
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journal_title:Clinical genetics
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pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1987.tb03157.x
更新日期:1987-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00665.x
更新日期:1981-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00701.x
更新日期:1981-04-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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更新日期:1975-10-01 00:00:00
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pub_type: 杂志文章
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1987-08-01 00:00:00
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更新日期:2015-07-01 00:00:00
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更新日期:2008-02-01 00:00:00
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pub_type: 杂志文章
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更新日期:1996-01-01 00:00:00
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更新日期:2013-04-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:2018-03-01 00:00:00
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pub_type: 杂志文章
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更新日期:2019-05-01 00:00:00