XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing

被引：0

作者：

Kim, Ahlee ^{[1
]}

Abell, Katherine ^{[2
]}

Johnson, Jodie ^{[2
]}

Cizek, Stephanie ^{[3
]}

Breech, Lesley ^{[3
,7
]}

Ernst, Michelle M. ^{[4
,7
]}

Hopkin, Robert J. ^{[2
,7
]}

Kennedy, Kimberly ^{[5
]}

Stanek, Jerzy ^{[6
,7
]}

Strine, Andrew C. ^{[5
,7
]}

Rutter, Meilan M. ^{[1
,7
]}

机构：

[1] Cincinnati Childrens Hosp Med Ctr, Div Endocrinol, 3333 Burnet Ave,MLC 7012, Cincinnati, OH 45229 USA

[2] Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

[3] Cincinnati Childrens Hosp Med Ctr, Div Pediat & Adolescent Gynecol, Cincinnati, OH 45229 USA

[4] Cincinnati Childrens Hosp Med Ctr, Div Behav Med & Clin Psychol, Cincinnati, OH 45229 USA

[5] Cincinnati Childrens Hosp Med Ctr, Div Pediat Urol, Cincinnati, OH 45229 USA

[6] Cincinnati Childrens Hosp Med Ctr, Div Pathol, Cincinnati, OH 45229 USA

[7] Univ Cincinnati, Dept Pediat, Cincinnati, OH USA

来源：

PEDIATRICS | 2020年 / 146卷 / 05期

基金：

美国国家卫生研究院;

关键词：

DISORDERS;

D O I：

10.1542/peds.2019-3302

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

In this case report, we discuss a novel presentation of a girl with XY chromosomes discovered through DTC genetic testing, highlighting the importance of interdisciplinary care and the capabilities and limitations of such testing. We report a 16-year-old phenotypic female with 46,XY complete gonadal dysgenesis and metastatic dysgerminoma, unexpectedly discovered through direct-to-consumer (DTC) commercial genetic testing. This case underscores the importance of timely interdisciplinary care, including psychosocial intervention and consideration of gonadectomy, to optimize outcomes for individuals with differences of sex development. Her unique presentation highlights the implications of DTC genetic testing in a new diagnostic era and informs general pediatricians as well as specialists of nongenetic services about the value, capabilities, and limitations of DTC testing.

引用

页数：6

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