A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome

被引：10

作者：

Chand, Momal T. ^{[1
]}

Turner, Stefanie ^{[2
]}

Solomon, Leigh Ann ^{[3
]}

Jay, Allison ^{[4
]}

Rabah, Raja ^{[5
]}

Misra, Vinod K. ^{[2
]}

机构：

[1] Ascens St John Hosp, Dept Pathol, Detroit, MI USA

[2] Childrens Hosp Michigan, Dept Pediat, Div Genet Genom & Metab Disorders, Detroit, MI 48201 USA

[3] Ascens St John Hosp, Gynecol Oncol, Detroit, MI USA

[4] Ascens St John Hosp, Canc Genet Dept, Detroit, MI USA

[5] Univ Michigan, Dept Pathol, Ann Arbor, MI 48109 USA

来源：

JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY | 2020年 / 33卷 / 05期

关键词：

Difference of sex development; Swyer syndrome; Mosaicism; Gonadal dysgenesis; Gonadoblastoma; TURNER SYNDROME; WOMEN;

D O I：

10.1016/j.jpag.2020.06.008

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Background: Swyer syndrome is a difference of sex development that is typically associated with mutations in genes responsible for testicular development. It is speculated that some cases may result from cryptic 45,X/46,XY mosaicism leading to abnormal gonadal development. The presence or absence of a 45,X lineage is important for prognosis and management. Case: We present a case of apparent Swyer syndrome associated with a 46,XY chromosomal complement in lymphocytes and 45,X/46,XY mosaicism on analysis of her noncancerous gonad. Gonadal histology was consistent with a 45,X phenotype. Summary and Conclusion: This case demonstrates the clinical variability in the presentation of 45,X/46,XY mosaicism and highlights the importance of thorough genetic testing that includes consideration of chromosomal mosaicism. We will discuss the implications of this diagnosis for management.

引用

页码：577 / 580

页数：4

共 8 条

[1]

Arboleda VA, 2010, GENETIC DIAGNOSIS OF ENDOCRINE DISORDERS, P227, DOI 10.1016/B978-0-12-374430-2.00021-3

[2] Exome Sequencing for the Diagnosis of 46, XY Disorders of Sex Development [J].