title: Cystic fibrosis transmembrane conductance regulator protein expression in the male excretory duct system during development.
abstract: Sterility due to bilateral destruction in utero or in early infancy resulting in congenital absence of the vas deferens is the rule in male patients with cystic fibrosis. To understand the developmental pattern of this anomaly, the microscopic morphology of the male excretory system was analyzed during development and the expression of the cystic fibrosis transmembrane conductance regulator protein was explored by immunohistochemistry. We observed that cystic fibrosis fetuses had no excretory ducts agenesis or obstruction until 22 weeks of gestation. However, a focal inflammatory pattern and mucinous plugs in the oldest cystic fibrosis case suggested a disruptive mechanism. Immunolabeling of cytoplasmic epithelial cystic fibrosis transmembrane conductance regulator protein was demonstrated in all cystic fibrosis and control cases with a similar pattern of expression of the protein between age-matched controls and cystic fibrosis cases. At midgestation, an apical intensification appeared in both cystic fibrosis and control cases and was stable during the remainder of fetal life. No gradient of intensity could be detected between the different segments of the excretory tract. These findings are different from those reported in adults. The absence of any morphologic anomaly until 22 weeks of gestation, the focal destruction of the epithelial structures during the second trimester, and the chronological pattern of expression of cystic fibrosis transmembrane conductance regulator are of interest for a better understanding of the pathophysiology of this disease.
authors.affiliation: Service d'Anatomie Pathologique, Pole Biologie-Pathologie, Centre Hospitalier Régional Universitaire, 29609 Brest cedex, France. pascale.marcorelles@chu-brest.fr
authors.forename: Pascale
authors.initials: P
authors.lastname: Marcorelles
authors.forename: Danièle
authors.initials: D
authors.lastname: Gillet
authors.forename: Gaëlle
authors.initials: G
authors.lastname: Friocourt
authors.forename: Françoise
authors.initials: F
authors.lastname: Ledé
authors.forename: Laura
authors.initials: L
authors.lastname: Samaison
authors.forename: Geneviève
authors.initials: G
authors.lastname: Huguen
authors.forename: Claude
authors.initials: C
authors.lastname: Ferec
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D003550:Cystic Fibrosis / Q000196:embryology* / Q000378:metabolism / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000378:metabolism*; D003593:Cytoplasm / Q000378:metabolism; D004822:Epididymis / Q000196:embryology / Q000378:metabolism; D004847:Epithelial Cells / Q000378:metabolism / Q000473:pathology; D047109:Fetal Development; D005865:Gestational Age; D006801:Humans; D008297:Male; D012152:Rete Testis / Q000196:embryology / Q000378:metabolism; D013997:Time Factors; D014649:Vas Deferens / Q000196:embryology* / Q000378:metabolism / Q000473:pathology
chemical_list: D015415:Biomarkers; C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator