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result(s) for
"Mieusset, Roger"
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Genetics of the congenital absence of the vas deferens
2021
Congenital absence of the vas deferens (CAVD) may have various clinical presentations depending on whether it is bilateral (CBAVD) or unilateral (CUAVD), complete or partial, and associated or not with other abnormalities of the male urogenital tract. CBAVD is usually discovered in adult men either during the systematic assessment of cystic fibrosis or other CFTR-related conditions, or during the exploration of isolated infertility with obstructive azoospermia. The prevalence of CAVDs in men is reported to be approximately 0.1%. However, this figure is probably underestimated, because unilateral forms of CAVD in asymptomatic fertile men are not usually diagnosed. The diagnosis of CAVDs is based on clinical, ultrasound, and sperm examinations. The majority of subjects with CAVD carry at least one cystic fibrosis-causing mutation that warrants CFTR testing and in case of a positive result, genetic counseling prior to conception. Approximately 2% of the cases of CAVD are hemizygous for a loss-of-function mutation in the ADGRG2 gene that may cause a familial form of X-linked infertility. However, despite this recent finding, 10–20% of CBAVDs and 60–70% of CUAVDs remain without a genetic diagnosis. An important proportion of these unexplained CAVDs coexist with a solitary kidney suggesting an early organogenesis disorder (Wolffian duct), unlike CAVDs related to CFTR or ADGRG2 mutations, which might be the result of progressive degeneration that begins later in fetal life and probably continues after birth. How the dysfunction of CFTR, ADGRG2, or other genes such as SLC29A3 leads to this involution is the subject of various pathophysiological hypotheses that are discussed in this review.
Journal Article
Are men ready to use thermal male contraception? Acceptability in two French populations: New fathers and new providers
2018
Since the 1970s, international research has actively pursued hormonal male contraception (HMC) and, to a lesser extent, thermal male contraception (TMC). Although the efficacy of TMC has been confirmed in limited populations, its acceptability has not been studied in either potential users or potential prescribers.
A cross-sectional descriptive multicentre study of potential male users of TMC (new fathers) and potential prescribers of TMC (new providers) was conducted between November 2016 and February 2017.The participants completed a 3-part survey, and their responses were evaluated to i) determine their socio-demographic profiles; ii) identify personal experiences with contraception; and iii) gauge the participants' knowledge, interest and preference for male contraception, particularly TMC. For new providers only, the survey included a fourth part to evaluate professional experience with male contraception.
The participation rate was 51% for new fathers (305 NFs) and 34% for new providers (300 NPs, including 97 men (male new providers, MNPs) and 203 women (female new providers, FNPs)). Only 3% of NFs and 15% of NPs knew about TMC (including 26% of the MNPs and 10% of the FNPs, p<0.01). After reading information on TMC, new fathers were significantly less willing to try TMC (29%) than were new providers (40%) (p<0.01). The 3 main advantages of TMC for the new fathers included the following factors: \"natural\" (52%), \"without side effects\" (38%) and \"non-hormonal\" (36%). The main disadvantages were \"lengthy wear time\" (56%), \"daily undergarment wear\" (43%) and \"concern about possible discomfort\" (39%).
Young male and female providers have limited knowledge of male contraception, are interested in further information and would generally prescribe TMC to their patients. Successful expansion of the use of male contraception, including TMC, would require distribution of better information to potential users and providers.
Journal Article
Diagnosis of Partial Retrograde Ejaculation in Non-Azoospermic Infertile Men with Low Semen Volume
2017
In non-azoospermic patients with low semen volume (LSV), looking for partial retrograde ejaculation (PRE) by searching sperm in the postejaculatory urine (PEU) is required. The use of a retro-ejaculatory index (R-ratio) was suggested to define PRE, but none of the studies indicated a specific threshold above which PRE must be considered. Our objective was to propose a threshold value for the R-ratio as indicative of PRE in patients with LSV selected to be devoid of any known causes or risk factors for retrograde ejaculation or LSV. Among our data base (2000-2009) including 632 patients with PEU, 245 male patients from infertile couples who had had a first semen analysis with LSV (< 2mL) and a second semen analysis associated with PEU, were selected on the previous criteria. A prospective control group was randomly constituted (2007-2008) of 162 first consulting male patients from infertile couples, with a normal semen volume (≥ 2mL) on a first semen analysis and who accepted to collect PEU with their usual second semen analysis, selected on the previous criteria. To define an R-ratio threshold indicative of PRE, we used a ROC curve analysis and a regression tree based on a classification and regression tree (CART) algorithm. Of the 245 LSV patients, 146 still presented low semen volume (< 2 mL) on the second semen analysis. From the use of the CART algorithm, two low (1.5% and 2.8%) and two high R-values (7.1% and 8.3%) were defined, according to the lower reference limit for semen volume of 2.0 mL (WHO 1999) or 1.5 mL (WHO 2010) respectively. As only one or no patient with normal semen volume was observed above the two high R-values, we suggest an R-value higher than the range of [7.1-8.3]% as indicative of PRE until confirmation by a prospective multicenter study.
Journal Article
Meeting Report: Measuring Endocrine-Sensitive Endpoints within the First Years of Life
by
Whyatt, Robin M.
,
Swan, Shanna H.
,
Mendola, Pauline
in
Anthropometry
,
Biomedical Research - trends
,
Body Weights and Measures
2008
An international workshop titled \"Assessing Endocrine-Related Endpoints within the First Years of Life\" was held 30 April-1 May 2007, in Ottawa, Ontario, Canada. Representatives from a number of pregnancy cohort studies in North America and Europe presented options for measuring various endocrine-sensitive endpoints in early life and discussed issues related to performing and using those measures. The workshop focused on measuring reproductive tract developmental endpoints [e.g., anogenital distance (AGD)], endocrine status, and infant anthropometry. To the extent possible, workshop participants strove to develop or recommend standardized measurements that would allow comparisons and pooling of data across studies. The recommended outcomes include thigh fat fold, breast size, vaginal cytology, AGD, location of the testis, testicular size, and growth of the penis, with most of the discussion focusing on the genital exam. Although a number of outcome measures recommended during the genital exam have been associated with exposure to endocrine-disrupting chemicals, little is known about how predictive these effects are of later reproductive health or other chronic health conditions.
Journal Article
Basic and Clinical Andrology reviewer acknowledgement 2015
2016
Contributing reviewers
The editor of
Basic and Clinical Andrology
would like to thank all of our reviewers who have contributed to the journal in Volume 25 (2015).
Journal Article
Reviewer acknowledgement 2014
2015
Contributing reviewers
The Editors of
Basic and Clinical Andrology
would like to thank all of our reviewers who have contributed to the journal in Volume 24 (2014) and whose valuable support is fundamental to its success.
Journal Article
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling
2017
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.
Journal Article