본문 바로가기
KERD
논문KCI 등재

성결정부위가 소실된 46,XY 순수 생식샘발생장애 1예

A Case of 46,XY Pure Gonadal Dysgenesis with Loss of the Sex-Determining Region of YChromosome

이영진|윤귀현
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2008.04|Annals of Laboratory Medicine|제28권 제2호|pp. 151-154

2

조회

0

다운로드

0

인용

0

참고문헌

주제분류병리학

초록

Abstract

A 23-yr-old phenotypic female was seen for primary amenorrhea. Her pubic hair was relatively well developed and external genitalia showed normal female appearance, but breast development was retarded. Transvaginal ultrasonographic examination showed a small uterus with indistinct streak gonads, but both ovaries were not detected. Cytogenetic study revealed 46,XY. In FISH and PCR, the sex-determining region of Y chromosome (SRY) was not detected. We report here a case of 46,XY pure gonadal dysgenesis with loss of the SRY. (Korean J Lab Med 2008;28:151-4)

참고문헌 (24)

  1. Blecher SR, "Genetics of sexual development: a new paradigm", Am J Med Genet A, 143, pp.3054~3068 (2007)
  2. Goodfellow PN, "Genetics and sex determination in man and mouse", Development, 102, pp.251~258 (1988)
  3. Migeon CJ, "Human sex differentiation and its abnormalities", Best Pract Res Clin Obstet Gynaecol, 17, pp.1~18 (2003)
  4. Fleming A, "The endless quest for sex determination genes", Clin Genet, 67, pp.15~25 (2004)
  5. McElreavey K, "Sex determination and the Y chromosome", Am J Med Genet, 89, pp.176~185
  6. Berkovitz GD, "Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation", Medicine (Baltimore), 70, pp.375~383 (1991)
  7. Iliopoulos D, "Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome)", Ann Genet, 47, pp.185~190 (2004)
  8. Fechner PY, "Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis", J Clin Endocrinol Metab, 76, pp.1248~1253 (1993)
  9. Robboy SJ, "Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: perspective derived from a clinicopathologic analysis of twenty-one cases", Hum Pathol, 13, pp.700~716 (1982)
  10. Berta P, "Genetic evidence equating SRY and the testis-determining factor", Nature, 348, pp.448~450 (1990)
  11. Koopman P, "Male development of chromosomally female mice transgenic for Sry", Nature, 351, pp.117~121 (1991)
  12. Vilain E, "Mammalian sex determination: from gonads to brain", Mol Genet Metab, 65, pp.74~84 (1998)
  13. Kim JU, "Gender verification test based on PCR determination of Y chromosomal DNA: experience in genetic sex typing during the ’99 Kangwon Asian Winter Games", Korean J Clin Pathol, 20, pp.215~219 (2000)
  14. Muller U, "Mapping of testis-determining locus on Yp by the molecular genetic analysis of XX males and XY females", Development, 101(S), pp.S51~S58 (1987)
  15. McElreavy K, "XY sex reversal associated with a deletion 5’to the SRY “HMG box”in the testis-determining region", Proc Natl Acad Sci USA, 89, pp.11016~11020 (1992)
  16. Tsutsumi O, "Analysis of the testisdetermining gene SRY in patients with XY gonadal dysgenesis", Horm Res, 46(S:), pp.S6~S10 (1996)
  17. Uehara S, "gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation", J Hum Genet, 47, pp.279~284 (2002)
  18. McElreavey K, "The genetic basis of murine and human sex determination: a review", Heredity, 75, pp.599~611 (1995)
  19. Knower KC, "Turning on the male--SRY, SOX9 and sex determination in mammals", Cytogenet Genome Res, 101, pp.185~198 (2003)
  20. Manuel M, "The age of occurrence of gonadal tumors in intersex patients with a Y chromosome", Am J Obstet Gynecol, 12(4), pp.293~300 (1976)
  21. 문희원, "성분화 및 성발달 장애 환자의 원인과 임상적 특징", 대한진단검사의학회지, 24(3), pp.183~188 (2004), 대한진단검사의학회
  22. Kim JY, "Detection of Y mosaicism in gonadal dysgenesis", Korean J Fertil Steril, 26, pp.457~466 (1999)
  23. Park KH, "Screening for Y-derived sex determining gene SRY in patients with intersex", Korean J Obstet Gynecol, 42, pp.854~861 (1999)
  24. Kim SK, "Gonadoblastoma and dysgerminoma associated with 46,XY pure gonadal dysgenesis--a case report", J Korean Med Sci, 8, pp.380~384 (1993)

관련 논문AI추천

가족내 두 자매에서 발생한 Swyer 증후군 2예김기형, 신병섭, 윤만수, 이국원, 이동형대한산부인과학회 · Obstetrics & Gynecology Science2003 · 제46권 제10호터너증후군 의심환자에서 2개의 SRY 유전자 발현 1예김윤식, 박상묵대한임상검사과학회 · 대한임상검사과학회지2010 · 제42권 제3호남성화를 동반한 터너모자이시즘 1예김상욱, 김혜령, 박정우, 성중엽, 임은선, 주창우, 지병철대한산부인과학회 · Obstetrics & Gynecology Science2009 · 제52권 제6호Y염색체를 가진 조기난소부전 환자에서의 자연임신 1예김남근, 남윤성, 윤태기, 이숙환, 장성운, 차광열대한산부인과학회 · Obstetrics & Gynecology Science2003 · 제46권 제1호A Case of Swyer Syndrome김경동, 서정일, 이채훈, 조희순영남대학교 의과대학 · Journal of Yeungnam Medical Science2007 · 제24권 제2호Y 염색체 미세결실을 동반한 46,X,inv(Y)/45,X 핵형을 보이는 터너증후군 1예김향미, 박종배, 유석동, 조윤영, 조출현대한산부인과학회 · Obstetrics & Gynecology Science2006 · 제49권 제4호

이 간행물의 다른 논문 (11건)

광범위한 골수 침범을 동반한 ALK 양성 광범위 B형 대세포림프종 2예의세포형태학적 특징과 CLTC-ALK 재배열의 분자유전학적 분석정희숙, 김원석, 김희진, 김선희, 김기현pp. 89-94Denaturing HPLC를 이용한 리팜핀 내성 결핵균의 검출조민호, 이상현, 남윤형, 안영창, 권필승, 김종완, 박수민, 장원철pp. 95-102실시간-중합효소연쇄반응을 이용한 결핵균의 검출박경운, 이재호, 김성한, 송상훈, 김홍빈, 박성섭, 김의종, 송정한, 유광철, 허세란, 장호은pp. 103-108Rhinovirus, Human Metapneumovirus, Coronavirus 검출을 위한SeeplexTM RV Detection 키트의 평가김미나, 우영대, 성흥섭, 최병후, 박숙자pp. 109-117한국인에서 중중 자궁내막증 감수성과 HLA-A, B항원의 연관성 연구김성훈, 박명희, 황동희, 최영민pp. 118-123
원문 보기