The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-04

AUTHORS

Roger Mieusset, Isabelle Fauquet, Dominique Chauveau, Laetitia Monteil, Nicolas Chassaing, Myriam Daudin, Antoine Huart, François Isus, Cathy Prouheze, Patrick Calvas, Eric Bieth, Louis Bujan, Stanislas Faguer

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. More... »

PAGES

211-218

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s40620-016-0286-5

DOI

http://dx.doi.org/10.1007/s40620-016-0286-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1052322610

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26946416


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