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Published on: August 13, 2015
Maternal Microchimerism Is Uncommon in Patients with Hypospadias
Yuki Muranishi1,2, Yuko Katoh-Fukui1, Masafumi Kon2
1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Abstract:
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.
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