Chromosome 16 Mutations and Congenital Genitourinary Malformations - Gynecology & Womens Health

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.

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