Abstract:
:A patient with an apparently normal 46, XY karyotype, suffering from pure gonadal dysgenesis and of short stature was investigated. The patient, who was growth retarded, was a 30-year-old married Japanese woman with a history of primary amenorrhea and infertility with a weight of 42 kg and a height of 146 cm. She has a phenotypically and karyotypically normal dizygotic twin brother with normal development. Southern-blot and polymerase chain-reaction analyses revealed no apparent deletions in the patient's Y chromosome, including the sex-determining region Y (SRY). The DNA sequencing of the SRY gene showed a 100% nucleotide sequence identity with the reported cloned sequence. Sex reversal in the present case may be due to mutation at a locus other than SRY in the sex determining pathway, a gene potentially involved in the determination of human constitution.
journal_name
Endocr Jjournal_title
Endocrine journalauthors
Tsutsumi O,Iida T,Taketani Y,Sugase M,Nakahori Y,Nakagome Ydoi
10.1507/endocrj.41.281subject
Has Abstractpub_date
1994-06-01 00:00:00pages
281-5issue
3eissn
0918-8959issn
1348-4540journal_volume
41pub_type
杂志文章abstract::A nationwide epidemiologic survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases was conducted in 2010 to clarify the prevalence and the clinical presentations of the disorders. A questionnaire inquiring the experience of patients with these diseases was sent to randomly selected hospitals th...
journal_title:Endocrine journal
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journal_title:Endocrine journal
pub_type: 杂志文章
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doi:10.1507/endocrj.EJ16-0280
更新日期:2017-01-30 00:00:00
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journal_title:Endocrine journal
pub_type: 杂志文章
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更新日期:2012-01-01 00:00:00
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pub_type: 临床试验,杂志文章,多中心研究
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journal_title:Endocrine journal
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更新日期:1996-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:2007-04-01 00:00:00
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journal_title:Endocrine journal
pub_type: 杂志文章,评审
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更新日期:2014-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:2014-01-01 00:00:00
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journal_title:Endocrine journal
pub_type: 杂志文章
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更新日期:2000-12-01 00:00:00