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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제20권 제2호
- 발행연도
- 2015.1
- 수록면
- 110 - 113 (4page)
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초록· 키워드
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Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall stature. This report describes the first Korean case of Turner syndrome with tall stature caused by SHOX overdosage. The patient presented with primary amenorrhea and hypergonadotropic hypogonadism at the age of 17 years. Estrogen replacement therapy was initiated at that time. She displayed tall stature from childhood, with normal growth velocity, and reached a final height of 190 cm (standard deviation score, 4.3) at the age of 30 years. Her karyotype was 46,X, psu idic(X)(q21.2), representing partial monosomy of Xq and partial trisomy of Xp. Analysis by multiplex ligationdependent probe amplification detected a duplication at Xp22.3-Xp22.2, encompassing the PPP2R3 gene near the 5’-end of the SHOX gene through the FANCD gene at Xp22.2.
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참고문헌 (13)
참고문헌 신청
Clement-Jones M / 2000 / The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome / Hum Mol Genet 9 : 695 ~ 702
Ellison JW / 1997 / PHOG, a candidate gene for involvement in the short stature of Turner syndrome / Hum Mol Genet 6 : 1341 ~ 1347
Kosho T / 1999 / Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome / J Clin Endocrino
Nakamura Y / 2001 / A case of 46,X,der(X)(pter-->q21::p21-->pter) with gonadal dysgenesis, tall stature, and endometriosis / Fertil Steril 75 : 1224 ~ 1225
Nishi MY / 2008 / Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX
Ellison JW / 1997 / PHOG, a candidate gene for involvement in the short stature of Turner syndrome / Hum Mol Genet 6 : 1341 ~ 1347
Kosho T / 1999 / Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome / J Clin Endocrino
Nakamura Y / 2001 / A case of 46,X,der(X)(pter-->q21::p21-->pter) with gonadal dysgenesis, tall stature, and endometriosis / Fertil Steril 75 : 1224 ~ 1225
Nishi MY / 2008 / Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX
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