지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제20권 제4호
- 발행연도
- 2015.1
- 수록면
- 226 - 229 (4page)
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초록· 키워드
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Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesticular tissues. The authors report a mixed gonadal dysgenesis case found in clinical 45,X Turner patient with positive SRY gene. Screening for SRY gene should be done even the karyotype is 45,X monosomy and external genitalia is normal.
목차
등록된 정보가 없습니다.
참고문헌 (17)
참고문헌 신청
Achermann JC / 2011 / Williams text book of endocrinology / Sounders/Elsevier : 886 ~
Alvarez-Nava F / 2001 / Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis / Ann Genet 44 : 155 ~ 159
Bianco B / 2008 / Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases / Fertil Steril 90 : 1197.e17 ~ 1197.e20
Bianco B / 2009 / SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome / Int J Gynecol Pathol 28 : 197 ~ 202
Canto P / 2000 / A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism / J Clin Endocrinol Metab 85 : 1908
Alvarez-Nava F / 2001 / Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis / Ann Genet 44 : 155 ~ 159
Bianco B / 2008 / Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases / Fertil Steril 90 : 1197.e17 ~ 1197.e20
Bianco B / 2009 / SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome / Int J Gynecol Pathol 28 : 197 ~ 202
Canto P / 2000 / A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism / J Clin Endocrinol Metab 85 : 1908
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X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female
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Hybrid Approach of Ruptured Type B Aortic Dissection with an Aberrant Subclavian Artery in a Single Patient with Turner Syndrome: A Case Report
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Grey Turner’s and Cullen’s signs induced by spontaneous hemorrhage of the abdominal wall after coughing
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Letter to the Editor: Rule Out Alternative Mechanisms Before Attributing Elevated Hemidiaphragm to Parsonage Turner Syndrome and SARS-CoV-2 Vaccination
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Lennox-Gastaut syndrome associated with dysgenesis of corpus callosum
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