Roger Mieusset1,2,3, Isabelle Fauquet4, Dominique Chauveau3,5, Laetitia Monteil6, Nicolas Chassaing3,6, Myriam Daudin1,2, Antoine Huart5, François Isus1,2, Cathy Prouheze6, Patrick Calvas6, Eric Bieth3,6, Louis Bujan1,2,3, Stanislas Faguer7,8. 1. Centre de stérilité masculine-Médecine de la Reproduction, Hôpital Paule de Viguier, CHU de Toulouse, Toulouse, France. 2. EA 3694, Groupe de Recherche en Fertilité Humaine, Université Paul Sabatier, Toulouse III, Toulouse, France. 3. Université Paul Sabatier, Toulouse III, Toulouse, France. 4. Service de Radiologie, Clinique Pasteur, Toulouse, France. 5. 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. 6. Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France. 7. Université Paul Sabatier, Toulouse III, Toulouse, France. stanislas.faguer@gmail.com. 8. 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.
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. CONCLUSION: 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.
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. CONCLUSION: 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.
Entities:
Keywords:
ADPKD; Absence of vas deferens; HNF1B; Male infertility; Renal disease
Authors: Richard A Oram; Emma L Edghill; Jenny Blackman; Miles J O Taylor; Tracey Kay; Sarah E Flanagan; Ida Ismail-Pratt; Sarah M Creighton; Sian Ellard; Andrew T Hattersley; Coralie Bingham Journal: Am J Obstet Gynecol Date: 2010-07-15 Impact factor: 8.661