Abstract
46,XY disorder of sex development (46,XY DSD) is characterized by a 46,XY karyotype, ambiguous genitalia with mild to severe penoscrotal hypospadias ,dysgenetic testes, reduced to no sperm production, and müllerian structures that range from absent to presence of a fully developed uterus and fallopian tubes. 46,XY complete gonadal dysgenesis is characterized by a 46,XY karyotype, normal female external genitalia, completely undeveloped streak gonads, no sperm production, and presence of normal müllerian structures and often not diagnosed until puberty when secondary sexual characteristics fail to develop. The diagnosis of 46,XY DSD and 46,XY gonodal dysgenesis relies on clinical findings, gonadal histology, chromosome analysis testing to detect changes in genes.Because of increased risk for gonadal tumors(most commonly dysgerminoma) abdominal streak gonads should be surgically removed . Typically, hormone replacement therapy (HRT) is required from puberty onward.
Keywords
References
- Le Caignec C, Baron S, McElreavey K, Joubert M, Rival JM, Mechinaud F, David A. 46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred. Am J Med Genet A 2003;116A(1):37-43.
- Tayfur M, Kocabas R, Kaygisiz AZ, Tiryaki S, Polat M, Cefle K. Dysgerminoma arising in Swyer Syndrome. Internet J Pathol 2008;7:2.
- Gibbons B, Tan SY, Yu CC, Cheah E, Tan HL. Risk of gonado- blastomas in female patients with Y chromosome abnor- malities and dysgenetic gonads. J Paediatr Child Health 1999;35:210-3
- Kim SK, Sohn IS, Kim JW, et al. Gonadoblastomas and dys- germinoma associated with 46, XY pure gonadal dysgen- esis - a case report. J Korean Med Sci 1993;8:380-4
- Wilhelm D, Palmer S, Koopman P. Sex determination and gonadal development in mammals. Physiol Rev 2007;87: 1–28
- Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus state- ment on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006;118: e488–500
- Warne GL, Hewitt JK. Disorders of sex development: cur- rent understanding and continuing controversy. Med J 2009;190:612–3.
- Kliegman Robert M. et al Nelson Textbook of Pediatrics. 19th Edition. Elsevier Unites States of America 2007;389:4
Abstract
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Keywords
References
- Le Caignec C, Baron S, McElreavey K, Joubert M, Rival JM, Mechinaud F, David A. 46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred. Am J Med Genet A 2003;116A(1):37-43.
- Tayfur M, Kocabas R, Kaygisiz AZ, Tiryaki S, Polat M, Cefle K. Dysgerminoma arising in Swyer Syndrome. Internet J Pathol 2008;7:2.
- Gibbons B, Tan SY, Yu CC, Cheah E, Tan HL. Risk of gonado- blastomas in female patients with Y chromosome abnor- malities and dysgenetic gonads. J Paediatr Child Health 1999;35:210-3
- Kim SK, Sohn IS, Kim JW, et al. Gonadoblastomas and dys- germinoma associated with 46, XY pure gonadal dysgen- esis - a case report. J Korean Med Sci 1993;8:380-4
- Wilhelm D, Palmer S, Koopman P. Sex determination and gonadal development in mammals. Physiol Rev 2007;87: 1–28
- Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus state- ment on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006;118: e488–500
- Warne GL, Hewitt JK. Disorders of sex development: cur- rent understanding and continuing controversy. Med J 2009;190:612–3.
- Kliegman Robert M. et al Nelson Textbook of Pediatrics. 19th Edition. Elsevier Unites States of America 2007;389:4
Details
| Primary Language | English |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | December 1, 2012 |
| Published in Issue | Year 2012 Volume: 9 Issue: 4 |