Asset Details
Do you wish to reserve the book?
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling
Do you wish to request the book?
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling
2017
Overview
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.
Publisher
Springer International Publishing,Italian Society of Nephrology/Springer
Subject
/ Female
/ Genetic Predisposition to Disease
/ Hepatocyte Nuclear Factor 1-beta - genetics
/ Humans
/ Infertility, Male - diagnosis
/ Infertility, Male - epidemiology
/ Infertility, Male - genetics
/ Infertility, Male - physiopathology
/ Male
/ Male Urogenital Diseases - epidemiology
/ Male Urogenital Diseases - genetics
/ Male Urogenital Diseases - physiopathology
/ Male Urogenital Diseases - therapy
/ Medicine
/ Mutation
/ Polycystic Kidney, Autosomal Dominant - epidemiology
/ Polycystic Kidney, Autosomal Dominant - genetics
/ Polycystic Kidney, Autosomal Dominant - physiopathology
/ Polycystic Kidney, Autosomal Dominant - therapy
/ Reproductive Techniques, Assisted
/ Urology
