| The role of sexual related Y gene detection in the diagnosis of patients with gonadal dysgenesis. | |
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MedLine Citation:
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PMID: 11780190 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To clarify the role of sexual related Y (SRY) gene detection in the diagnosis of gonadal dysgenesis. METHODS: Sixteen cases of gonadal dysgenesis were included in this study: 5 with androgen insensitivity syndrome, 1 with 17-alpha-hydroxylase deficiency, 4 with true hermaphrodite, 2 with 45, X/46, XY gonadal dysgenesis, 1 with 45, X gonadal dysgenesis, 1 with XY pure gonadal dysgenesis, 1 with testicular regression, and 1 XY female who gave birth to a normal baby. SRY gene was detected by using polymerase chain reaction (PCR) in blood and gonad samples and by direct sequencing of the SRY motif. RESULTS: Among the 16 cases, 15 were blood SRY positive, among which 13 (86.7%) showed the presence of testicular tissue, and 2 showed ovaries without testicular tissue. One SRY negative case showed the presence of testicular tissue. In 3 cases, SRY detection in gonadal tissue correlated with pathological findings but not with blood karyotype. The correlation between peripheral blood SRY and the pathology of the gonads was 81.25% and the correlation between the presence of peripheral blood Y chromosome and pathology of the gonads was 68.75%. Sequencing of the SRY motif in an XY female who gave birth to a normal baby showed no mutation. CONCLUSIONS: SRY detection is more sensitive and specific than blood karyotype in the prediction of the presence of testicular tissue. Peripheral blood karyotype does not necessarily reflect gonadal type. There may be testicular related factors other than the SRY gene. |
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Authors:
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Q Yu; S Huang; L Ye; L Feng; F He; J Ye; C Gu; Q Ge |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Chinese medical journal Volume: 114 ISSN: 0366-6999 ISO Abbreviation: Chin. Med. J. Publication Date: 2001 Feb |
Date Detail:
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Created Date: 2002-01-08 Completed Date: 2002-02-13 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7513795 Medline TA: Chin Med J (Engl) Country: China |
Other Details:
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Languages: eng Pagination: 128-31 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, CAMS, Beijing 100730, China. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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DNA
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genetics DNA-Binding Proteins / genetics* Female Gonadal Dysgenesis / diagnosis*, genetics Humans Karyotyping Male Nuclear Proteins* Polymerase Chain Reaction Sex-Determining Region Y Protein Transcription Factors* |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; 0/Nuclear Proteins; 0/SRY protein, human; 0/Sex-Determining Region Y Protein; 0/Transcription Factors; 9007-49-2/DNA |
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