Germ Cell Tumors in 46, XY Gonadal Dysgenesis.

Autor:	Misgar RA; Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India., Islam Mir SU; Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India., Mir MH; Department of Medical Oncology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India., Bashir MI; Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India., Wani AI; Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India., Masoodi SR; Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India.
Jazyk:	angličtina
Zdroj:	Indian journal of endocrinology and metabolism [Indian J Endocrinol Metab] 2024 Jul-Aug; Vol. 28 (4), pp. 424-428. Date of Electronic Publication: 2023 Jun 30.
DOI:	10.4103/ijem.ijem_373_22
Abstrakt:	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. Competing Interests: There are no conflicts of interest. (Copyright: © 2023 Indian Journal of Endocrinology and Metabolism.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu