Management of male infertility due to congenital bilateral absence of vas deferens should not ignore the diagnosis of cystic fibrosis
| Autor: | Bertrand Macé, Nathalie Rives, V Grzegorczyk, S Dominique, Louis Sibert |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Infertility congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Sperm Retrieval Cystic Fibrosis Urology medicine.medical_treatment Cystic Fibrosis Transmembrane Conductance Regulator Genetic Counseling Cystic fibrosis Intracytoplasmic sperm injection Male infertility Vas Deferens Endocrinology Male Urogenital Diseases Pregnancy medicine Humans Sperm Injections Intracytoplasmic Infertility Male Gynecology Bronchiectasis biology business.industry Vas deferens General Medicine Middle Aged medicine.disease Cystic fibrosis transmembrane conductance regulator medicine.anatomical_structure biology.protein Female business Percutaneous epididymal sperm aspiration |
| Zdroj: | Andrologia. 44:358-362 |
| ISSN: | 0303-4569 |
| DOI: | 10.1111/j.1439-0272.2012.01288.x |
| Popis: | Microsurgical or percutaneous epididymal sperm aspiration and intracytoplasmic sperm injection (ICSI) are proposed to overcome male infertility due to congenital bilateral absence of vas deferens (CBAVD). CBAVD has been associated with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and consequently, genetic counselling has to be addressed before beginning ICSI procedure. However, management of male infertility due to CBAVD should not ignore a mild form of cystic fibrosis. We describe the case of cystic fibrosis late diagnosis performed in a 49-year-old infertile men with CBAVD. CFTR molecular testing detected two mutations F508del and A455E corresponding to a cystic fibrosis genotype. Pneumological evaluation revealed a severe obstructive respiratory disease, bronchiectasis and high sweat chloride levels. Symptoms consistent with a cystic fibrosis have to be identified in infertile men with CBAVD before beginning assisted reproductive procedures. |
| Databáze: | OpenAIRE |
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