|Table of Contents|

Analysis of 46,XY pure gonadal dysgenesis associated with gonadal dysgerminoma

Journal Of Modern Oncology[ISSN:1672-4992/CN:61-1415/R]

Issue:
2018 02
Page:
272-275
Research Field:
Publishing date:

Info

Title:
Analysis of 46,XY pure gonadal dysgenesis associated with gonadal dysgerminoma
Author(s):
Zhang Xiaohong; Cai Guoqing; Chen Biliang; Liu Shujuan; Wang Jian
Department of Gynecology and Obstetrics，Xijing Hospital，Fourth Military Medical University，Shaanxi Xi'an 710032，China．
Keywords:
46; XY complete gonadal dysgenesis; 9p deletion syndrome; gonadal dysgerminoma
PACS:
R737
DOI:
10.3969/j.issn.1672-4992.2018.02.029
Abstract:
Objective:To investigate the clinical presentations,diagnosis and therapy for 46,XY pure gonadal dysgenesis associated with gonadal dysgerminoma.Methods:A 22-year-old patient with giant tumor and abdominal pain was reviewed restrospectively.Results:The patient was characterized by 46,XY karyotype and phenotypically female.Chromosomal mcroarray analysis shows a 4.49 Mb deletion at chromosome 9p24.3p3p24.1 encompassing DOCK8,KANK1,DMRT,SMARCA2,VLDLR,KCNV2 and a 1.08 Mb duplication at chromosome 4p16.3.Deletion at chromosome 9p24.3p3p24.1 led to sex reverse.Her left gonadal became malignant,which changed to dysgerminoma.Conclusion：Molecular cytogenetic techniques such as chromosomal microarray analysis are useful in the determination of the origin of chromosomal disorder.It is better to carry on those pregnant women with abnormal pregnancy and childbearing.Once diagnosed,these particular patients should remove their gonadals as soon as possible.

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陕西省科技统筹创新工程基金重大项目（编号：2012KCTL03-08）
Last Update: 2017-11-30