Chromosome 16 Mutations and Congenital Genitourinary Malformations
Journal Title: World Journal of Gynecology & Womens Health (WJGWH) - Year 2018, Vol 1, Issue 3
Abstract
Posterior urethral valve (PUV) disorder is an obstructive anomaly of the genitourinary tract. Found only in males, this condition is caused by an obstructing membrane in the posterior valve of the urethra. During the early stages of embryogenesis, the most caudal end of the wolffian duct is absorbed into the primitive cloaca, forming the posterior urethral folds [1]. In fetuses with PUV, the development of these structures is arrested resulting in fusion of these primitive folds, leading to an obstruction of the outflow of urine. This pathologic finding presents on a spectrum of varying degrees, wherein the obstruction may cause only mild symptoms and present as late as early infancy or cause severe and irreversible damage during early fetal development. In this case, we investigate the possible association between chromosome 16 and the development of the renal system, and the potential for congenital malformation in the setting of genetic alteration.
Authors and Affiliations
Morgan Barlow
Keywords
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- EP ID EP609274
- DOI 10.33552/WJGWH.2018.01.000511
- Views 122
- Downloads 0
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