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

[1] Bashamboo A, McElreavey K., Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development, Sex Dev, 10, pp. 313-325, (2016)
[2] Neocleous V, Fanis P, Cinarli F, Kokotsis V, Oulas A, Toumba M, Spyrou GM, Phylactou LA, Skordis N., 46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene, Hormones (Athens), 18, pp. 315-320, (2019)
[3] Elzaiat M, McElreavey K, Bashamboo A., Genetics of 46,XY gonadal dysgenesis, Best Pract Res Clin Endocrinol Metab, 36, (2022)
[4] Hughes IA, Houk C, Ahmed SF, Lee PA, Consensus statement on management of intersex disorders, Arch Dis Child, 91, pp. 554-563, (2006)
[5] Galli-Tsinopoulou A, Serbis A, Kotanidou EP, Litou E, Dokousli V, Mouzaki K, Fanis P, Neocleous V, Skordis N., 46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin, J Clin Res Pediatr Endocrinol, 10, pp. 74-78, (2018)
[6] Swyer GI., Male pseudohermaphroditism: a hitherto undescribed form, Br Med J, 2, pp. 709-712, (1955)
[7] Bumbuliene Z, Varyte G, Geimanaite L., Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature, J Pediatr Adolesc Gynecol, 33, pp. 599-601, (2020)
[8] Lu L, Luo F, Wang X., Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies, Front Pediatr, 10, (2022)
[9] Alam S, Boro H, Goyal A, Khadgawat R., 46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/ gonadoblastoma, BMJ Case Rep, 13, (2020)
[10] Piazza MJ, Urbanetz AA., Germ Cell Tumors in Dysgenetic Gonads, Clinics (Sao Paulo), 74, (2019)

← 1 2 3 4 5 →