title: The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling.
abstract: BACKGROUND
  While reproductive technologies are increasingly used worldwide, epidemiologic, clinical and genetic data regarding infertile men with combined genital tract and renal abnormalities remain scarce, preventing adequate genetic counseling.
  
  
  METHODS
  In a cohort-based study, we assessed the prevalence (1995-2014) and the clinical characteristics of renal disorders in infertile males with genital tract malformation. In a subset of 34 patients, we performed a detailed phenotype analysis of renal and genital tract disorders.
  
  
  RESULTS
  Among the 180 patients with congenital uni- or bilateral absence of vas deferens (CU/BAVD), 45 (25 %) had a renal malformation. We also identified 14 infertile men with combined seminal vesicle (SV) and renal malformation but no CU/BAVD. Among the 34 patients with detailed clinical description, renal disease was unknown before the assessment of the infertility in 27 (79.4 %), and 7 (20.6 %) had chronic renal failure. Four main renal phenotypes were observed: solitary kidney (47 %); autosomal-dominant polycystic kidney disease (ADPKD, 0.6 %); uni- or bilateral hypoplastic kidneys (20.6 %); and a complex renal phenotype associated with a mutation of the HNF1B gene (5.8 %). Absence of SV and azoospermia were significantly associated with the presence of a solitary kidney, while dilatation of SV and necroasthenozoospermia were suggestive of ADPKD.
  
  
  CONCLUSIONS
  A dominantly inherited renal disease (ADPKD or HNF1B-related nephropathy) is frequent in males with infertility and combined renal and genital tract abnormalities (26 %). A systematic renal screening should be proposed in infertile males with CU/BAVD or SV disorders.
authors.affiliation: Centre de stérilité masculine-Médecine de la Reproduction, Hôpital Paule de Viguier, CHU de Toulouse, Toulouse, France.|EA 3694, Groupe de Recherche en Fertilité Humaine, Université Paul Sabatier, Toulouse III, Toulouse, France.|Université Paul Sabatier, Toulouse III, Toulouse, France.
authors.forename: Roger
authors.initials: R
authors.lastname: Mieusset
authors.affiliation: Service de Radiologie, Clinique Pasteur, Toulouse, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Fauquet
authors.affiliation: Université Paul Sabatier, Toulouse III, Toulouse, France.|Département de Néphrologie et Transplantation d'organes, Centre de référence des maladies rénales rares, et INSERM UMR1048, Hôpital Rangueil, CHU de Toulouse, 1, avenue Jean Poulhes, 31000, Toulouse, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Chauveau
authors.affiliation: Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France.
authors.forename: Laetitia
authors.initials: L
authors.lastname: Monteil
authors.affiliation: Université Paul Sabatier, Toulouse III, Toulouse, France.|Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Chassaing
authors.affiliation: Centre de stérilité masculine-Médecine de la Reproduction, Hôpital Paule de Viguier, CHU de Toulouse, Toulouse, France.|EA 3694, Groupe de Recherche en Fertilité Humaine, Université Paul Sabatier, Toulouse III, Toulouse, France.
authors.forename: Myriam
authors.initials: M
authors.lastname: Daudin
authors.affiliation: Département de Néphrologie et Transplantation d'organes, Centre de référence des maladies rénales rares, et INSERM UMR1048, Hôpital Rangueil, CHU de Toulouse, 1, avenue Jean Poulhes, 31000, Toulouse, France.
authors.forename: Antoine
authors.initials: A
authors.lastname: Huart
authors.affiliation: Centre de stérilité masculine-Médecine de la Reproduction, Hôpital Paule de Viguier, CHU de Toulouse, Toulouse, France.|EA 3694, Groupe de Recherche en Fertilité Humaine, Université Paul Sabatier, Toulouse III, Toulouse, France.
authors.forename: François
authors.initials: F
authors.lastname: Isus
authors.affiliation: Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France.
authors.forename: Cathy
authors.initials: C
authors.lastname: Prouheze
authors.affiliation: Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France.
authors.forename: Patrick
authors.initials: P
authors.lastname: Calvas
authors.affiliation: Université Paul Sabatier, Toulouse III, Toulouse, France.|Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
authors.affiliation: Centre de stérilité masculine-Médecine de la Reproduction, Hôpital Paule de Viguier, CHU de Toulouse, Toulouse, France.|EA 3694, Groupe de Recherche en Fertilité Humaine, Université Paul Sabatier, Toulouse III, Toulouse, France.|Université Paul Sabatier, Toulouse III, Toulouse, France.
authors.forename: Louis
authors.initials: L
authors.lastname: Bujan
authors.affiliation: Université Paul Sabatier, Toulouse III, Toulouse, France. stanislas.faguer@gmail.com.|Département de Néphrologie et Transplantation d'organes, Centre de référence des maladies rénales rares, et INSERM UMR1048, Hôpital Rangueil, CHU de Toulouse, 1, avenue Jean Poulhes, 31000, Toulouse, France. stanislas.faguer@gmail.com.
authors.forename: Stanislas
authors.initials: S
authors.lastname: Faguer
mesh_terms: D000328:Adult; D005260:Female; D005298:Fertility / Q000235:genetics*; D005602:France / Q000453:epidemiology; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D007668:Kidney / Q000002:abnormalities* / Q000503:physiopathology; D050498:Live Birth; D008297:Male; D052801:Male Urogenital Diseases / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D011247:Pregnancy; D018873:Pregnancy Rate; D015995:Prevalence; D027724:Reproductive Techniques, Assisted; D012189:Retrospective Studies; D018570:Risk Assessment; D012307:Risk Factors; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014649:Vas Deferens / Q000002:abnormalities* / Q000503:physiopathology
chemical_list: C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta
keywords: ADPKD; Absence of vas deferens; HNF1B; Male infertility; Renal disease