Germ Cell Tumors in 46, XY Gonadal Dysgenesis
Introduction: To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital. Materials and Methods: This retrospective study included 3 cases of 46,...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-08-01
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| Series: | Indian Journal of Endocrinology and Metabolism |
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| Online Access: | https://journals.lww.com/indjem/fulltext/2024/07000/germ_cell_tumors_in_46,_xy_gonadal_dysgenesis.14.aspx |
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| author | Raiz A Misgar Sajad U Islam Mir Mohmad H Mir Mir I. Bashir Arshad I. Wani Shariq R. Masoodi |
| author_facet | Raiz A Misgar Sajad U Islam Mir Mohmad H Mir Mir I. Bashir Arshad I. Wani Shariq R. Masoodi |
| author_sort | Raiz A Misgar |
| collection | DOAJ |
| description | Introduction:
To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital.
Materials and Methods:
This retrospective study included 3 cases of 46, XY gonadal dysgenesis with germ cell tumors evaluated and managed at the Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, over a period of 13 years from (September 2008 to December 2021).
Results:
Over a period of 13 years, we diagnosed and managed 7 patients with 46, XY gonadal dysgenesis. This included 4 patients with pure gonadal dysgenesis (PGD; Swyer syndrome), 2 patients with mixed gonadal dysgenesis (MGD), and one patient with partial gonadal dysgenesis. Out of these 7 patients, three patients developed germ cell tumors, one patient with MGD, and two patients with pure PGD (Swyer syndrome). In all three patients, germ cell tumor was the first presentation of DSD. The patient with MGD presented with primary amenorrhea and virilization, while the two patients with PGD presented as phenotypic females with primary amenorrhea and pelvic mass. All three patients developed seminomatous cancers. Patient with MGD developed seminoma and the two patients with PGD (Swyer syndrome) developed dysgerminoma. The patients were managed with bilateral gonadectomy with removal of the tumor. In addition, the 2 patients with PGD (Swyer syndrome) received combined chemotherapy. On a follow up ranging from 1 to 10 years, all three patients are disease free.
Conclusions:
we conclude that germ cell tumors may be the first presentation of 46, XY gonadal dysgenesis. In all phenotypic females with primary amenorrhea and dysgerminoma, karyotype is a must to uncover the diagnosis of PGD. In addition virilization may be clue to the presence of germ cell tumor in a patient with 46, XY gonadal dysgenesis. |
| format | Article |
| id | doaj-art-753e6ebf0a044ee98cbee065db2e6de0 |
| institution | DOAJ |
| issn | 2230-9500 |
| language | English |
| publishDate | 2024-08-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Endocrinology and Metabolism |
| spelling | doaj-art-753e6ebf0a044ee98cbee065db2e6de02025-08-20T02:40:32ZengWolters Kluwer Medknow PublicationsIndian Journal of Endocrinology and Metabolism2230-95002024-08-0128442442810.4103/ijem.ijem_373_22Germ Cell Tumors in 46, XY Gonadal DysgenesisRaiz A MisgarSajad U Islam MirMohmad H MirMir I. BashirArshad I. WaniShariq R. MasoodiIntroduction: To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital. Materials and Methods: This retrospective study included 3 cases of 46, XY gonadal dysgenesis with germ cell tumors evaluated and managed at the Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, over a period of 13 years from (September 2008 to December 2021). Results: Over a period of 13 years, we diagnosed and managed 7 patients with 46, XY gonadal dysgenesis. This included 4 patients with pure gonadal dysgenesis (PGD; Swyer syndrome), 2 patients with mixed gonadal dysgenesis (MGD), and one patient with partial gonadal dysgenesis. Out of these 7 patients, three patients developed germ cell tumors, one patient with MGD, and two patients with pure PGD (Swyer syndrome). In all three patients, germ cell tumor was the first presentation of DSD. The patient with MGD presented with primary amenorrhea and virilization, while the two patients with PGD presented as phenotypic females with primary amenorrhea and pelvic mass. All three patients developed seminomatous cancers. Patient with MGD developed seminoma and the two patients with PGD (Swyer syndrome) developed dysgerminoma. The patients were managed with bilateral gonadectomy with removal of the tumor. In addition, the 2 patients with PGD (Swyer syndrome) received combined chemotherapy. On a follow up ranging from 1 to 10 years, all three patients are disease free. Conclusions: we conclude that germ cell tumors may be the first presentation of 46, XY gonadal dysgenesis. In all phenotypic females with primary amenorrhea and dysgerminoma, karyotype is a must to uncover the diagnosis of PGD. In addition virilization may be clue to the presence of germ cell tumor in a patient with 46, XY gonadal dysgenesis.https://journals.lww.com/indjem/fulltext/2024/07000/germ_cell_tumors_in_46,_xy_gonadal_dysgenesis.14.aspx46; disorders of sex development; dysgerminoma; germ cell tumors; seminoma; xy gonadal dysgenesis |
| spellingShingle | Raiz A Misgar Sajad U Islam Mir Mohmad H Mir Mir I. Bashir Arshad I. Wani Shariq R. Masoodi Germ Cell Tumors in 46, XY Gonadal Dysgenesis Indian Journal of Endocrinology and Metabolism 46; disorders of sex development; dysgerminoma; germ cell tumors; seminoma; xy gonadal dysgenesis |
| title | Germ Cell Tumors in 46, XY Gonadal Dysgenesis |
| title_full | Germ Cell Tumors in 46, XY Gonadal Dysgenesis |
| title_fullStr | Germ Cell Tumors in 46, XY Gonadal Dysgenesis |
| title_full_unstemmed | Germ Cell Tumors in 46, XY Gonadal Dysgenesis |
| title_short | Germ Cell Tumors in 46, XY Gonadal Dysgenesis |
| title_sort | germ cell tumors in 46 xy gonadal dysgenesis |
| topic | 46; disorders of sex development; dysgerminoma; germ cell tumors; seminoma; xy gonadal dysgenesis |
| url | https://journals.lww.com/indjem/fulltext/2024/07000/germ_cell_tumors_in_46,_xy_gonadal_dysgenesis.14.aspx |
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