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

Kui hyun Yoon; Young Jin Lee

doi:10.3343/kjlm.2008.28.2.151

Journal List > Korean J Lab Med > v.28(2) > 1011457

Go to TopGo to Top Go to BottomGo to Bottom

TOOLS

Yoon and Lee: A Case of 46,XY Pure Gonadal Dysgenesis with Loss of the Sex-Determining Region of Y Chromosome

Original Article

Korean J Leg Med 2008;28(2):151-154.

Published online: 14 February 2008

DOI: https://doi.org/10.3343/kjlm.2008.28.2.151

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

Kui hyun Yoon, M.D.¹, Young Jin Lee, M.D.²

¹Department of Laboratory Medicine, Wonkwang University Sanbon Hospital, Gunpo, Korea

²Department of Laboratory Medicine, and Institute of Wonkwang Medical Science, School of Medicine, Wonkwang University, Iksan, Korea

Received 21 December 200730 January 2008 Accepted 16 February 2008

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: SRY, 46,XY, Pure gonadal dysgenesis, Primary amenorrhea

REFERENCES

1.Blecher SR., Erickson RP. Genetics of sexual development: a new paradigm. Am J Med Genet A. 2007. 143:3054–68.

2.Goodfellow PN., Darling SM. Genetics and sex determination in man and mouse. Development. 1988. 102:251–8.

3.Migeon CJ., Wisniewski AB. Human sex differentiation and its abnormalities. Best Pract Res Clin Obstet Gynaecol. 2003. 17:1–18.

4.Fleming A., Vilain E. The endless quest for sex determination genes. Clin Genet. 2004. 67:15–25.

5.McElreavey K., Fellous M. Sex determination and the Y chromosome. Am J Med Genet. 1999. 89:176–85.

6.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. 70:375–83.

7.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. 47:185–90.

8.Fechner PY., Marcantonio SM., Ogata T., Rosales TO., Smith KD., Goodfellow PN, et al. Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. J Clin Endocrinol Metab. 1993. 76:1248–53.

9.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. 13:700–16.

10.Berta P., Hawkins JR., Sinclair AH., Taylor A., Griffiths BL., Goodfellow PN, et al. Genetic evidence equating SRY and the testis-determining factor. Nature. 1990. 348:448–50.

11.Koopman P., Gubbay J., Vivian N., Goodfellow P., Lovell-Badge R. Male development of chromosomally female mice transgenic for Sry. Nature. 1991. 351:117–21.

12.Vilain E., McCabe ER. Mammalian sex determination: from gonads to brain. Mol Genet Metab. 1998. 65:74–84.

13.Kim JU., Herr H., Chang HK., Ahn HK., Oh KJ., Kim HK. 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. 2000. 20:215–9. (김정욱, 허환, 장현규, 안해경, 오길주, 임홍기. 중합효소연쇄반응을이용한성별확인검사: ’99강원동계아시아대회 운영경험. 대한임상병리학회지 2000;20: 215-9.).

14.Muller U. Mapping of testis-determining locus on Yp by the molecular genetic analysis of XX males and XY females. Development. 1987. 101(S):S51–8.

15.McElreavy K., Vilain E., Abbas N., Costa JM., Souleyreau N., Kucheria K, et al. XY sex reversal associated with a deletion 5′ to the SRY “HMG box” in the testis-determining region. Proc Natl Acad Sci USA. 1992. 89:11016–20.

16.Tsutsumi O., Iida T., Nakahori Y., Taketani Y. Analysis of the testisdetermining gene SRY in patients with XY gonadal dysgenesis. Horm Res. 1996. 46(S):S6–10.

17.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. 47:279–84.

18.McElreavey K., Barbaux S., Ion A., Fellous M. The genetic basis of murine and human sex determination: a review. Heredity. 1995. 75:599–611.

19.Knower KC., Kelly S., Harley VR. Turning on the male–SRY, SOX9 and sex determination in mammals. Cytogenet Genome Res. 2003. 101:185–98.

20.Manuel M., Katayama PK., Jones HW Jr. The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol. 1976. 124:293–300.

21.Moon HW., Huh JW. Causes and clinical characteristics of patients with abnormal sex differentiation and development. Korean J Lab Med. 2004. 24:183–8. (문희원및허정원. 성분화및성발달장애환자의원인과임상적특징. 대한진단검사의학회지 2004;24: 183-8.).

22.Kim JY., Lee SJ., Park KH., Bai SW., Lee BS., Kim SK, et al. Detection of Y mosaicism in gonadal dysgenesis. Korean J Fertil Steril. 1999. 26:457–66. (김진영, 이상준, 박기현, 배상욱, 이병석, 김세광등. 성선이형성환자 혈액 및 성선 조직에서 Y염색체 모자이시즘의 진단. 대한불임학회지 1999;26: 457-66.).

23.Park KH., Kim JY., Bai SW., Lee BS., Yang YH., Cho DJ, et al. Screening for Y-derived sex determining gene SRY in patients with intersex. Korean J Obstet Gynecol. 1999. 42:854–61. (박기현, 김진영, 배상욱, 이병석, 양영호, 조동제 등. 비정상 성분화 환자에서 SRY 유전자 검색. 대한산부인과학회지 1999;42: 854-61.).

24.Kim SK., Sohn IS., Kim JW., Song CH., Park CI., Lee MS, et al. Gona-doblastoma and dysgerminoma associated with 46,XY pure gonadal dysgenesis–a case report. J Korean Med Sci. 1993. 8:380–4.

Fig. 1.

Karyotype of the patient showing 46,XY.

Fig. 2.

The PCR product of SRY and amelogenin. (A) The loss of SRY (170 bp) in lane 2. (B) Presence of both × and Y regions of amelogenin (Y: 354 bp, X: 538 bp) in lane 2.

Lane 1, size markers (each 100 bp); lane 2, patient; lane 3, male control; lane 4, female control.

Fig. 3.

The result of FISH of X and Y chromosome. The green signals of × chromosome were present, but orange signal of Y (p11.6) was lost.

TOOLS

Similar articles