Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature

被引：0

作者：

Adra, Maamoun ^{[1
,2
]}

Nakanishi, Hayato ^{[1
,2
]}

Papachristodoulou, Eleni ^{[3
]}

Karaoli, Evangelia ^{[3
]}

Gerasimou, Petroula ^{[4
]}

Miltiadous, Antri ^{[4
]}

Nicolaou, Katerina ^{[4
]}

Loizou, Loizos ^{[3
]}

Skordis, Nicos ^{[1
,2
,5
]}

机构：

[1] St Georges Univ London, Med Sch, London, England

[2] Univ Nicosia, Med Sch, Nicosia, Cyprus

[3] Makarios Hosp, Clin Paediat Oncol, Nicosia, Cyprus

[4] Karaiskakio Fdn, Mol Hematol Oncol, Nicosia, Cyprus

[5] Div Pediat Endocrinol, Private Practice, Nicosia, Cyprus

来源：

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY | 2024年 / 16卷 / 04期

关键词：

Seminoma; Swyer syndrome; gonadal dysgenesis; 46; XY; SWYER-SYNDROME; BREAST DEVELOPMENT; DYSGERMINOMA; GONADOBLASTOMA; DIAGNOSIS; DISORDER; PATIENT; FEMALE;

D O I：

10.4274/jcrpe.galenos.2023.2023-12-11

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Swyer syndrome is a rare congenital condition that serves as a risk factor for developing germ cell tumors. The condition belongs to the group of 46, XY disorders of sexual development, is characterized by complete gonadal dysgenesis (CGD) and is mostly manifested as delayed puberty and primary amenorrhea during adolescence. Individuals with Swyer syndrome are known to be phenotypically female with normal internal and external female genitalia at birth. 46, XY GD involves a high risk of gonadoblastoma development with malignant potential such that the onset is greatest at or after the event of puberty. This report of a 12-year-old phenotypic female with 46, XY GD, who developed an advanced metastatic seminoma, highlights the rarity of the development of a seminoma in the context of 46, XY CGD.

引用

页码：495 / 500

页数：6

共 43 条

[31] Dural O, Evruke I, Can S, Yasa C, Ugurlucan FG, Akhan SE., Atypical Presentation of Swyer Syndrome, J Pediatr Adolesc Gynecol, 32, pp. 645-647, (2019)
[32] Gonzalez-Benitez C, De La Iglesia E, De Santiago J, Zapardiel I., Dysgerminoma on a gonadoblastoma in a patient with Swyer syndrome treated with single incision laparoscopic surgery, J Obstet Gynaecol, 35, pp. 102-103, (2015)
[33] Hamed ST, Hanafy MAM., Swyer syndrome with malignant germ cell tumor: a case report, Egypt J Radiol Nucl Med, 52, (2021)
[34] 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, 6, (2011)
[35] Ilter E, Haliloglu B, Akin FT, Karaman A, Ozden S., Pure 46,XY gonadal dysgenesis (Swyer syndrome) with breast development and secondary amenorrhea, Gynecol Obstet Invest, 66, pp. 214-216, (2008)
[36] Jadhav MN, Yelikar BR, Karigoudar M., Gonadoblastoma with contralateral dysgerminoma in a young female--a case report, Indian J Pathol Microbiol, 49, pp. 274-276, (2006)
[37] Kim SK, Sohn IS, Kim JW, Song CH, Park CI, Lee MS, Kim GW, Kim KR., Gonadoblastoma and dysgerminoma associated with 46,XY pure gonadal dysgenesis--a case report, J Korean Med Sci, 8, pp. 380-384, (1993)
[38] Kumar NP, Mathews A, James FV., Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome)-A Case Report, Cureus, 8, (2016)
[39] Milewicz T, Mrozinska S, Szczepanski W, Bialas M, Kialka M, Doroszewska K, Kabzinska-Turek M, Wojtys A, Ludwin A, Chmura L., Dysgerminoma and gonadoblastoma in the course of Swyer syndrome, Pol J Pathol, 67, pp. 411-414, (2016)
[40] Stachowicz-Stencel T, Synakiewicz A, Izycka-Swieszewska E, Kobierska-Gulida G, Balcerska A., Malignant germ cell tumors associated with Swyer syndrome, Pediatr Blood Cancer, 56, pp. 482-483, (2011)

← 1 2 3 4 5 →