Search results for " urogenital abnormalities"
showing 2 items of 2 documents
Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of vas deferens
2001
Summary The possibility of retrieving spermatozoa from the epididymis allows patients with congenital bilateral absence of the vas deferens (CBAVD) to father a child by means of assisted reproduction techniques. This has, however, increased the chance of transmitting a mutated allele of the cystic fibrosis transmembrane conductance regulator (CFTR) gene which increases the risk of generating offspring with cystic fibrosis (CF). Because of the increased heterogeneity of the CFTR locus, the study of a discrete number of mutations, as usually carried out in a diagnostic work-up, is unable to ascertain the presence of a mutation in a relatively high proportion of the patients screened. In an at…
Laparoscopic removal of mullerian duct remnants in boys
2003
Abstract: Purpose: Mullerian duct remnants (MDRs) are present in a male pseudohermaphroditic form characterized by failure of the mullerian duct to regress due to insufficient production or peripheral action of mullerian inhibiting substance. The MDR can be asymptomatic but it often results in infections, stones and voiding troubles. Furthermore, it may develop into a neoplasm. Therefore, surgery is mandatory for large MDRs and symptomatic patients. Laparoscopic removal is described. Materials and Methods: Six males were treated from February 1998 to February 2003. Age at surgery was between 3 and 18 years (mean 8.6). All patients showed severe hypospadias and 2 had mixed gonadal dysgenesis…