1. The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities
- Author
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Antoine Huart, Isabelle Fauquet, François Isus, Eric Bieth, Dominique Chauveau, Roger Mieusset, M. Daudin, Laetitia Monteil, Stanislas Faguer, Patrick Calvas, Cathy Prouheze, Louis Bujan, Nicolas Chassaing, Hôpital Paule de Viguier, CHU Toulouse [Toulouse], Groupe de recherche en fertilité humaine ( GRFH), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Clinique Pasteur, Clinique Pasteur [Toulouse], Université Fédérale Toulouse Midi-Pyrénées, Centre de Référence du Sud Ouest des Maladies Rénales Rares, CHU Toulouse [Toulouse]-Hôpital des Enfants, Hôpital de Rangueil, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Néphrologie et Transplantation d'organes, and CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]
- Subjects
Male ,0301 basic medicine ,Nephrology ,HNF1B ,Pregnancy Rate ,030232 urology & nephrology ,Reproductive technology ,MESH: Risk Assessment ,Kidney ,urologic and male genital diseases ,Gastroenterology ,Male infertility ,MESH: Pregnancy ,Vas Deferens ,0302 clinical medicine ,MESH: Polycystic Kidney, Autosomal Dominant / physiopathology ,Male Urogenital Diseases ,MESH: Risk Factors ,[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases ,Pregnancy ,Risk Factors ,MESH: Infertility, Male* / epidemiology ,Prevalence ,Polycystic kidney disease ,MESH: Vas Deferens / physiopathology ,Medicine ,Absence of vas deferens ,MESH: Kidney / abnormalities ,MESH: Treatment Outcome ,MESH: Pregnancy Rate ,MESH: France / epidemiology ,MESH: Middle Aged ,MESH: Polycystic Kidney, Autosomal Dominant / therapy ,MESH: Genetic Predisposition to Disease ,MESH: Male Urogenital Diseases / therapy ,Middle Aged ,MESH: Hepatocyte Nuclear Factor 1-beta / genetics ,Polycystic Kidney, Autosomal Dominant ,3. Good health ,MESH: Reproductive Techniques, Assisted ,Phenotype ,Treatment Outcome ,medicine.anatomical_structure ,MESH: Fertility / genetics ,MESH: Live Birth ,Female ,France ,MESH: Kidney / physiopathology ,MESH: Genetic Counseling ,MESH: Tomography, X-Ray Computed ,MESH: Infertility, Male* / diagnosis ,Live Birth ,Adult ,Infertility ,medicine.medical_specialty ,MESH: Mutation ,Reproductive Techniques, Assisted ,Renal disease ,Genetic Counseling ,MESH: Male Urogenital Diseases / physiopathology ,MESH: Phenotype ,Risk Assessment ,Nephropathy ,03 medical and health sciences ,MESH: Male Urogenital Diseases / epidemiology ,Internal medicine ,MESH: Polycystic Kidney, Autosomal Dominant / genetics ,Humans ,Genetic Predisposition to Disease ,MESH: Prevalence ,Infertility, Male ,ADPKD ,Hepatocyte Nuclear Factor 1-beta ,Retrospective Studies ,MESH: Vas Deferens / abnormalities ,Azoospermia ,Gynecology ,MESH: Infertility, Male* / genetics ,MESH: Humans ,business.industry ,MESH: Male Urogenital Diseases / genetics ,MESH: Adult ,MESH: Retrospective Studies ,MESH: Infertility, Male* / physiopathology ,medicine.disease ,MESH: Male ,Fertility ,030104 developmental biology ,Mutation ,MESH: Polycystic Kidney, Autosomal Dominant / epidemiology ,Tomography, X-Ray Computed ,business ,MESH: Female - Abstract
International audience; 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.
- Published
- 2016
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