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영남의대학술지 Vol.24_No.2 Suppl. P.S665-670, Dec. 2007
Case Report
A Case of Swyer Syndrome
Soon Il Jung, Hee Soon Cho, Chae Hoon Lee, Kyung Dong Kim
Department of Laboratory Medicine, College of Medicine, Yeungnam University, Daegu, Korea
책임저자：조희순, 대구광역시 남구 대명동 317-1, 영남대학교 의과대학 진단검사의학교실
Tel: (053) 620-3633, Fax: (053) 653-7774
E-mail: chscp@med.yu.ac,kr
December 30, 2007
Abstract
46,XY pure gonadal dysgenesis is a sex-reversal disorder, that is characterized by the presence of a female phenotype, with a normal to tall stature, primary amenorrhea and sexual infantilism. The internal genitalia are female with a uterus and vagina being present, however, there are bilateral dysgenetic gonads. In addition, neoplasia occurs in 20～30% of patients who have gonadal dysgenesis and a Y chromosome. A 34 year old woman presented to our hospital with the chief complaint of primary amenorrhea. Physical examination revealed no secondary sexual characteristics and no somatic abnormality. Peripheral blood karyotype was 46,XY, and polymerase chain reaction (PCR) for the Sex determining Region Y (SRY) gene was positive. Sequencing analysis of the SRY gene revealed a single nucleotide polymorphism. A laparoscopic gonadectomy was performed to remove both gonads, and no tumor cells were observed. Estrogen replacement therapy was instituted.
Key Words: Swyer syndrome, SRY gene, Gonadal dysgenesis
References
	1. Lee KO, Lee DH, Shin BS, Kim KH, Yoon MS. Two Cases of Swyer Syndrome in Sisters. Korean J Obstet Gynecol 2003 Oct;46(10): 2060-64.
	2. Rebar RW. Puberty. In: Berek JS, editor. Berek & Novak’s Gynecology. 14th ed. Philadelphia: Lippincott Williams & Wilkins; 2007. p.991-1034
	3. Nam YS, Lee SH, Han JH, Cho SW, Yoon TK, Lee CN, et al. A Case of Swyer Syndrome Which showed a Positive SRY Gene in Peripheral Blood and Gonad. Korean J Fertil Steril 1999 Aug;26(2):275-80.
	4. Berkovitz GD, Fechner PY, Zacur HW, Rock JA, Snyder HM 3rd, Migeon CJ, et al. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: Its relevance to the understanding of sex differentiation. Medicine (Baltimore) 1991 Nov;70(6):375-83.
	5. Ostrer H. Sexual differentiation. Semin Reprod Med 2000;18(1):41-9.
	6. Jawaheer D, Juo SH, Le Caignec C, David A, Petit C, Gregersen P, et al. Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis. Clin Genet 2003 Jun;63(6):530-5.
	7. Robboy SJ, Miller T, Donahoe PK, Jahre C, Welch WR, Haseltine FP, et al. 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 1982 Aug;13 (8):700-16
	8. Swyer GI. Male pseudohermaphroditism: A hitherto undescribed form. Br Med J. 1955 Sep 17;2(4941):709-12.
	9. Uehara S, Hashiyada M, Sato K, Nata M, Funato T, Okamura K. Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation. J Hum Genet 2002;47(6):279-84.
	10. Brennan J, Capel B. One tissue, two fates: Molecular genetic events that underlie testis versus ovary development. Nat Rev Genet 2004 Jul;5(7):509-21.
	11. Harley VR, Jackson DI, Hextall PJ, Hawkins JR, Berkovitz GD, Sockanathan S, et al. DNA binding activity of recombinant SRY from normal males and XY females. Science 1992 Jan 24;255(5043):453-6.
	12. Kempe A, Engels H, Schubert R, Meindl A, van der Ven K, Plath H, et al. Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46,XY-karyotype. Gynecol Endocrinol 2002 Apr;16(2):107-11.
	13. Berg FD, Kurzl R, Hinrichsen MJ, Zander J. Familial 46,XY pure gonadal dysgenesis and gonadoblastoma/dysgerminoma: Case report. Gynecol Oncol 1989 Feb;32(2):261-7.
	14. Morerio C, Calvari V, Rosanda C, Porta S, Gambini C, Panarello C. XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene. Cancer Genet Cytogenet 2002 Jul 1;136(1):58-61.
	15. Iliopoulos D, Volakakis N, Tsiga A, Rousso I, Voyiatzis N. Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome). Ann Genet 2004 Apr-Jun;47(2):185-90.