Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of vas deferens
| Autor: | Rosario D'Agata, Aldo E. Calogero, Caterina Grazioso, Nunziatina Burrello, Gabriella Garigali, Giovanni Ruvolo, Tiziana Attardo, Matteo Angelo Cannizzaro, Enzo Vicari, Florindo Mollica, Maria Natalia Lizzio, M. R. Garofalo |
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| Jazyk: | angličtina |
| Rok vydání: | 2001 |
| Předmět: |
Adult
Male medicine.medical_specialty Genotype Cystic Fibrosis Transmembrane Conductance Regulator/genetics Vas Deferens/abnormalities Urogenital Abnormalities/genetics Urology Endocrinology Diabetes and Metabolism Population Cystic Fibrosis Transmembrane Conductance Regulator Gastroenterology Cystic fibrosis Vas Deferens Pregnancy Internal medicine medicine Humans Respiratory function Sperm Injections Intracytoplasmic Allele education Sweat test education.field_of_study biology medicine.diagnostic_test business.industry Vas deferens Pregnancy Outcome medicine.disease Epididymis Spermatozoa Cystic fibrosis transmembrane conductance regulator Endocrinology medicine.anatomical_structure Reproductive Medicine Urogenital Abnormalities biology.protein Female business |
| Popis: | 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 attempt to increase the chance of detecting the presence of CFTR gene abnormalities, 37 patients with CBAVD and one patient with congenital unilateral agenesis of the vas deferens (CUAVD) underwent an enlarged diagnostic protocol, which included screening for the most expected mutations of the CFTR gene in our population, evaluation of the five thymidine (5T) allelic variant, sweat test, respiratory function tests, evaluation of steatocrit, and an accurate evaluation of the history of the patient to search for symptoms commonly found in patients with CF. A single CFTR gene mutation was found in 18 patients (48.6%) with CBAVD and in the patient with CUAVD. The most frequent mutation observed was the DF508. Eleven patients (45.8%) had the 5T variant and in five of them it was not associated with any detectable mutation of the CFTR gene. Two female partners were found to be carriers of a mutation, whereas 5 (18.5%) had the 5T variant. As many as 71% of CBVAD patients had the simultaneous presence of at least two signs and/or symptoms suggestive of CF, albeit they were of mild intensity and the patients felt fit and healthy. In conclusion, these results suggested that some patients with CBAVD without CFTR gene mutation or 5T variant, even when their sweat test is negative, may show clinical suspicion of carrying a CFTR gene mutation and therefore are at risk of generating children affected by CF if the partner carries a mutation as well. The screening for mutations and a careful clinical examination may contribute to better identification of patients with CFTR-related CBAVD. |
| Databáze: | OpenAIRE |
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