Maternal Microchimerism Is Uncommon in Patients with Hypospadias.

UNLABELLED: <p>

Introduction

Although maternal microchimerism has been implicated in various disorders in children, its association with the risk of 46,XY disorders of sex development remains unknown.

METHODS

We studied 22 boys with hypospadias using highly sensitive quantitative PCR assays. In seven cases with additional anomalies, microarray-based comparative genomic hybridization and whole-exome sequencing confirmed the lack of apparent pathogenic variants.

RESULTS

Maternal microchimeric cells were detected in 2 patients (1.9 and 32.0 cells per 106 total cells). The results were comparable to our reference data.

CONCLUSION

This study argues against the significant role of maternal microchimerism in the risk of hypospadias. </p>.