Dysgerminoma in a 15 years Old Phenotypically Female Swyer Syndrome with 46, XY Pure Gonadal Dysgenesis: A case Report

Overview

Journal Clin Case Rep

Date 2022 Jul 18

PMID 35846908

Authors

Tahereh Ashraf Ganjooei

Zanbagh Pirastehfar

Asieh Mosallanejad

Masoomeh Raoufi

Noushin Afshar Moghaddam

Mozhgan Hashemieh

Affiliations

Soon will be listed here.

Abstract

Swyer syndrome is a 46, XY karyotype, with pure gonadal dysgenesis and primary amenorrhea. These females have primordial Mullerian structures and seek medical attention as they experience primary amenorrhea. Here, we report a 15-year-old girl, diagnosed as Swyer syndrome associated with left ovarian dysgerminoma.

Citing Articles

Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report.

Ashraf Ganjooei T, Pirastehfar Z, Mosallanejad A, Raoufi M, Moghaddam N, Hashemieh M Clin Case Rep. 2022; 10(7):e6083.

PMID: 35846908 PMC: 9280751. DOI: 10.1002/ccr3.6083.

References

Zhou Y, Xue X, Shi P, Lu Q, Lv S . Multidisciplinary team management of 46,XY 17α-hydroxylase deficiency: a case report and literature review. J Int Med Res. 2021; 49(3):300060521993965. PMC: 8165845. DOI: 10.1177/0300060521993965. View

Lipay M, Bianco B, Verreschi I . [Gonadal dysgenesis and tumors: genetic and clinical features]. Arq Bras Endocrinol Metabol. 2006; 49(1):60-70. DOI: 10.1590/s0004-27302005000100008. View

Cecchetto G . Gonadal germ cell tumors in children and adolescents. J Indian Assoc Pediatr Surg. 2014; 19(4):189-94. PMC: 4204242. DOI: 10.4103/0971-9261.141995. View

Lin K, Bryant S, Miller D, Kehoe S, Richardson D, Lea J . Malignant ovarian germ cell tumor - role of surgical staging and gonadal dysgenesis. Gynecol Oncol. 2014; 134(1):84-9. DOI: 10.1016/j.ygyno.2014.05.003. View

Verp M, Simpson J . Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet. 1987; 25(2):191-218. DOI: 10.1016/0165-4608(87)90180-4. View

Behtash N, Karimi Zarchi M . Dysgerminoma in three patients with Swyer syndrome. World J Surg Oncol. 2007; 5:71. PMC: 1934908. DOI: 10.1186/1477-7819-5-71. View

Priya P, Mishra V, Choudhary S, Rizvi J . A Case of Primary Amenorrhea with Swyer Syndrome. J Hum Reprod Sci. 2018; 10(4):310-312. PMC: 5799937. DOI: 10.4103/jhrs.JHRS_128_17. View

Yesiltepe Mutlu G, Kirmizibekmez H, Aydin H, Cetiner H, Moralioglu S, Celayir A . Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report. J Pediatr Endocrinol Metab. 2014; 28(1-2):207-10. DOI: 10.1515/jpem-2014-0071. View

Plante B, Fritz M . A case report of successful pregnancy in a patient with pure 46,XY gonadal dysgenesis. Fertil Steril. 2008; 90(5):2015.e1-2. DOI: 10.1016/j.fertnstert.2008.04.043. View

10.

Hughes I, Houk C, Ahmed S, Lee P . Consensus statement on management of intersex disorders. J Pediatr Urol. 2008; 2(3):148-62. DOI: 10.1016/j.jpurol.2006.03.004. View

11.

Coutin A, Hamy A, Fondevilla M, SAVIGNY B, Paineau J, Visset J . [Pure 46XY gonadal dysgenesis]. J Gynecol Obstet Biol Reprod (Paris). 1996; 25(8):792-6. View

12.

Taylor H, BARTER R, JACOBSON C . Neoplasms of dysgenetic gonads. Am J Obstet Gynecol. 1966; 96(6):816-23. DOI: 10.1016/0002-9378(66)90677-6. View

13.

Zielinska D, Zajaczek S, Rzepka-Gorska I . Tumors of dysgenetic gonads in Swyer syndrome. J Pediatr Surg. 2007; 42(10):1721-4. DOI: 10.1016/j.jpedsurg.2007.05.029. View

14.

Jakovleva A, Kovalova Z . Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature. Med Pharm Rep. 2022; 95(1):47-53. PMC: 9177091. DOI: 10.15386/mpr-2064. View

15.

King T, Conway G . Swyer syndrome. Curr Opin Endocrinol Diabetes Obes. 2014; 21(6):504-10. DOI: 10.1097/MED.0000000000000113. View

16.

Ashraf Ganjooei T, Pirastehfar Z, Mosallanejad A, Raoufi M, Moghaddam N, Hashemieh M . Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report. Clin Case Rep. 2022; 10(7):e6083. PMC: 9280751. DOI: 10.1002/ccr3.6083. View

17.

Jones Jr H, Ferguson-Smith M, HELLER R . THE PATHOLOGY AND CYTOGENETICS OF GONADAL AGENESIS. Am J Obstet Gynecol. 1963; 87:578-600. DOI: 10.1016/0002-9378(63)90051-6. View

18.

Nunes E, Rodrigues C, Geraldes F, Aguas F . Differentiating Swyer syndrome and complete androgen insensitivity syndrome: a diagnostic dilemma. J Pediatr Adolesc Gynecol. 2013; 27(3):e67-8. DOI: 10.1016/j.jpag.2013.07.001. View

19.

Han Y, Wang Y, Li Q, Dai S, He A, Wang E . Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report. Diagn Pathol. 2011; 6:84. PMC: 3182960. DOI: 10.1186/1746-1596-6-84. View

20.

Oppelt P, Renner S, Kellermann A, Brucker S, Hauser G, Ludwig K . Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging. Hum Reprod. 2005; 21(3):792-7. DOI: 10.1093/humrep/dei381. View