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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.
Maternal microchimeric cells were rarely detected in boys with hypospadias. This study suggests maternal microchimerism does not significantly contribute to the risk of hypospadias development.
Area of Science:
- Reproductive Biology
- Genetics
- Pediatric Endocrinology
Background:
- Maternal microchimerism, the transfer of cells between mother and fetus, is linked to various childhood conditions.
- Its role in 46,XY disorders of sex development, such as hypospadias, is not well understood.
Purpose of the Study:
- To investigate the association between maternal microchimerism and the risk of hypospadias in boys.
- To determine if maternal cells are present in affected individuals.
Main Methods:
- Quantitative PCR assays were used to detect maternal microchimeric cells in 22 boys with hypospadias.
- Genomic analyses (array CGH, whole-exome sequencing) were performed in cases with additional anomalies.
Main Results:
- Maternal microchimeric cells were detected in 2 out of 22 patients (8.7%).
- The detected levels (1.9 and 32.0 cells per 10^6 total cells) were comparable to reference data.
- No apparent pathogenic variants were found in cases with additional anomalies.
Conclusions:
- The findings do not support a significant role for maternal microchimerism in the etiology of hypospadias.
- Further research may be needed to explore other potential contributing factors.
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