Bilateral Germ cell tumours in a patient with Swyer Syndrome
<p class="Default">Swyer syndrome, or pure gonadal dysgenesis is a medical condition associated with 46 XY karyotype and primary amenorrhoea in a phenotypic female. In this syndrome, there is an abnormality in testicular differentiation. Patients with disorders in sexual differentiat...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Sri Lanka College of Endocrinologists
2018-04-01
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| Series: | Sri Lanka Journal of Diabetes Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | https://sjdem.sljol.info/articles/7351 |
| _version_ | 1818883347034669056 |
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| author | M. Weerakkody R. Warusahennadi A. Jayawardena P. Amarathunga |
| author_facet | M. Weerakkody R. Warusahennadi A. Jayawardena P. Amarathunga |
| author_sort | M. Weerakkody |
| collection | DOAJ |
| description | <p class="Default">Swyer syndrome, or pure gonadal dysgenesis is a medical condition associated with 46 XY karyotype and primary amenorrhoea in a phenotypic female. In this syndrome, there is an abnormality in testicular differentiation. Patients with disorders in sexual differentiation have an increased risk for development of gonadal malignancies. We report a case of a 14-year-old girl who was investigated for primary amenorrhoea, who was finally diagnosed with Swyer syndrome. At gonadectomy, this girl was found to have bilateral gonadoblastomas with right side being transformed into a germinoma. The case was complicated by the fact that the girl was treated for dyserythropetic anaemia, which may cause a hypo gonadotrophic hypogonadism, contributing to delayed puberty.</p><p class="Default"> </p> |
| first_indexed | 2024-12-19T15:32:12Z |
| format | Article |
| id | doaj.art-c897b08d9b994553a7b9cb769bd05808 |
| institution | Directory Open Access Journal |
| issn | 2012-998X |
| language | English |
| last_indexed | 2024-12-19T15:32:12Z |
| publishDate | 2018-04-01 |
| publisher | Sri Lanka College of Endocrinologists |
| record_format | Article |
| series | Sri Lanka Journal of Diabetes Endocrinology and Metabolism |
| spelling | doaj.art-c897b08d9b994553a7b9cb769bd058082022-12-21T20:15:42ZengSri Lanka College of EndocrinologistsSri Lanka Journal of Diabetes Endocrinology and Metabolism2012-998X2018-04-0181454810.4038/sjdem.v8i1.73515591Bilateral Germ cell tumours in a patient with Swyer SyndromeM. Weerakkody0R. Warusahennadi1A. Jayawardena2P. Amarathunga3Teaching Hospital KurunegalaTeaching Hospital KurunegalaFaculty of Medicine, University of ColomboFaculty of Medicine, University of Colombo<p class="Default">Swyer syndrome, or pure gonadal dysgenesis is a medical condition associated with 46 XY karyotype and primary amenorrhoea in a phenotypic female. In this syndrome, there is an abnormality in testicular differentiation. Patients with disorders in sexual differentiation have an increased risk for development of gonadal malignancies. We report a case of a 14-year-old girl who was investigated for primary amenorrhoea, who was finally diagnosed with Swyer syndrome. At gonadectomy, this girl was found to have bilateral gonadoblastomas with right side being transformed into a germinoma. The case was complicated by the fact that the girl was treated for dyserythropetic anaemia, which may cause a hypo gonadotrophic hypogonadism, contributing to delayed puberty.</p><p class="Default"> </p>https://sjdem.sljol.info/articles/7351swyer syndromegonadal dysgenesissexual differentiationgonadal malignanciesbilateral gonadoblastoma |
| spellingShingle | M. Weerakkody R. Warusahennadi A. Jayawardena P. Amarathunga Bilateral Germ cell tumours in a patient with Swyer Syndrome Sri Lanka Journal of Diabetes Endocrinology and Metabolism swyer syndrome gonadal dysgenesis sexual differentiation gonadal malignancies bilateral gonadoblastoma |
| title | Bilateral Germ cell tumours in a patient with Swyer Syndrome |
| title_full | Bilateral Germ cell tumours in a patient with Swyer Syndrome |
| title_fullStr | Bilateral Germ cell tumours in a patient with Swyer Syndrome |
| title_full_unstemmed | Bilateral Germ cell tumours in a patient with Swyer Syndrome |
| title_short | Bilateral Germ cell tumours in a patient with Swyer Syndrome |
| title_sort | bilateral germ cell tumours in a patient with swyer syndrome |
| topic | swyer syndrome gonadal dysgenesis sexual differentiation gonadal malignancies bilateral gonadoblastoma |
| url | https://sjdem.sljol.info/articles/7351 |
| work_keys_str_mv | AT mweerakkody bilateralgermcelltumoursinapatientwithswyersyndrome AT rwarusahennadi bilateralgermcelltumoursinapatientwithswyersyndrome AT ajayawardena bilateralgermcelltumoursinapatientwithswyersyndrome AT pamarathunga bilateralgermcelltumoursinapatientwithswyersyndrome |