Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma.

Sneha AryaSandeep KumarAnurag Ranjan LilaVijaya SarathiSaba Samad MemonRohit BarnabasHemangini ThakkarVirendra A PatilNalini S ShahTushar R Bandgar

Published in: Endocrine connections (2021)

WT1 alterations account for 3% of 46,XY DSD patients in our cohort. 46,XY DSD patients harboring exonic WT1 pathogenic variants carry a small but definitive risk of gonadoblastoma; hence, these patients require a gonadoblastoma surveillance with a more stringent surveillance in those harboring a gonadoblastoma-associated variant.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
public health
prognostic factors
squamous cell carcinoma
gene expression
radiation therapy
copy number
genome wide