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Résumé Introduction Depuis la naissance de Louise Brown par fécondation in vitro en 1978, les avancées en aide médicale à la procréation n’ont cessé de se développer. Le présent article a pour objet de faire un état des lieux des principaux examens réalisés dans le cadre de l’aide médicale à la procréation. Méthodes Résumé des recommandations, des guides de bonnes pratiques, des guides de formation et d’articles de référence. Résultats Certains examens sont utilisés en routine alors que d’autres sont du domaine de la recherche clinique. Discussion La prescription d’examens en infertilité doit prendre en compte la pertinence de ces examens toujours orientés par la clinique et le coût qu’ils engendrent. Summary Introduction Since the birth of Louise Brown in 1978 with IVF, assisted reproductive technologies (ART) are continually involving. The goal of this present study is to make a current situation of principles exams used in ART. Methods Summary of recommendations, best practice's guides, formation's guides and reference articles. Results Some exams are routine clinical used and others are not validated yet or are still in research field. Discussion Exams prescriptions in infertility have to be relevant and clinical-oriented and have to take into account the cost of these exams. [ABSTRACT FROM AUTHOR]

Study Question: Could whole-exome sequencing (WES) be useful in clinical practice for men with maturation arrest (MA) after a first testicular sperm extraction (TESE)?Summary Answer: WES in combination with TESE yields substantial additional information and may potentially be added as a test to predict a negative outcome of a recurrent TESE in patients with MA.What Is Known Already: At present, the only definitive contraindications for TESE in men with non-obstructive azoospermia (NOA) are a 46,XX karyotype and microdeletions in the azoospermia factor a (AZFa) and/or AZFb regions. After a first negative TESE with MA, no test currently exists to predict a negative outcome of a recurrent TESE.Study Design, Size, Duration: In a cohort study, we retrospectively included 26 patients with idiopathic NOA caused by complete MA diagnosed after a first TESE.Participants/materials, Setting, Methods: Twenty-six men with MA at the spermatocyte stage in all seminiferous tubules, according to a histopathological analysis performed independently by two expert histologists, and a normal karyotype (i.e. no AZF gene microdeletions on the Y chromosome) were included. Single-nucleotide polymorphism comparative genomic hybridization array and WES were carried out. The results were validated with Sanger sequencing. For all the variants thought to influence spermatogenesis, we used immunohistochemical techniques to analyse the level of the altered protein.Main Results and the Role Of Chance: Deleterious homozygous variants were identified in all seven consanguineous patients and in three of the 19 non-consanguineous patients. Compound heterozygous variants were identified in another 5 of the 19 non-consanguineous patients. No recurrent variants were identified. We found new variants in genes known to be involved in azoospermia or MA [including testis expressed 11 (TEX11), meiotic double-stranded break formation protein 1 (MEI1), proteasome 26s subunit, ATPase 3 interacting protein (PSMC3IP), synaptonemal complex central element protein 1 (SYCE1) and Fanconi anaemia complementation group M (FANCM) and variants in genes not previously linked to human MA (including CCCTC-binding factor like (CTCFL), Mov10 like RISC complex RNA helicase 1 (MOV10L1), chromosome 11 open reading frame 80 (C11ORF80) and exonuclease 1 (EXO1)].Large Scale Data: Data available on request.Limitations, Reasons For Caution: More data are required before WES screening can be used to avoid recurrent TESE, although screening should be recommended for men with a consanguineous family background. WES is still a complex technology and can generate incidental findings.Wider Implications Of the Findings: Our results confirmed the genetic aetiology of MA in most patients: the proportion of individuals with at least one pathologic variant was 50% in the overall study population and 100% in the consanguineous patients. With the exception of MEI1 (compound heterozygous variants of which were identified in two cases), each variant corresponded to a specific gene-confirming the high degree of genetic heterogeneity in men with MA. Our results suggest that WES screening could help to avoid recurrent, futile TESE in men with MA in general and in consanguineous individuals in particular, but these results need to be confirmed in future studies before clinical implementation.Study Funding/competing Interest(s): The study was funded by the Fondation Maladies Rares (Paris, France), Merck (Kenilworth, NJ, USA), IRSF (Montigny le Bretonneux, France) and Agence de la Biomédecine (Saint Denis, France). There are no competing interests.Trial Registration Number: N/A. [ABSTRACT FROM AUTHOR]

In azoospermic men with congenital bilateral absence of the vas deferens ( CBAVD), it is not known whether the outcomes of intracytoplasmic sperm injection ( ICSI) depend on the quality of testicular spermatogenesis (as determined histopathologically). We retrospectively studied the impact of spermatogenesis quality on ICSI outcomes in 108 azoospermic men with CBAVD consulting in a university hospital's department of andrology and reproductive biology. As part of an ICSI program, sperm samples were obtained from the epididymis [by microsurgical epididymal sperm aspiration ( MESA); n = 47] or the testis [by testicular sperm extraction ( TESE); n = 14] or both ( MESA + TESE, n = 47). In the TESE group (i.e., TESE-only and MESA + TESE), spermatogenesis was normal in 21 of the 108 men (19.4%) and hypospermatogenesis occurred in 33 (30.5%). The fertilization rate was significantly lower in the hypospermatogenic group than in the normospermatogenesis group (65.6 and 72.9%, respectively; p = 0.02); this was also true for the embryo cleavage rate (88.6 and 92.1%, respectively; p = 0.007), and the proportion of embryos with fewer than 30% of enucleate fragments (79.5 and 86.9%, respectively; p = 0.02). Our study results showed that impaired spermatogenesis had a negative impact on certain early-stage biological outcomes of ICSI. In CBAVD, male factors are likely to exert a harmful effect on the early stages of embryo development. [ABSTRACT FROM AUTHOR]

Anti-Müllerian hormone (AMH) is secreted by Sertoli cells and is responsible for the regression of Müllerian ducts in the male fetus as part of the sexual differentiation process. Serum AMH concentrations are at their lowest levels in the first days after birth but increase after the first week, likely reflecting active Sertoli cell proliferation. AMH rises rapidly in concentration in boys during the first month, reaching a peak level at ∼6 months of age, and it remains high during childhood, then they will slowly decline during puberty, falling to low levels in adulthood. Serum AMH measurement is used by pediatric endocrinologist as a specific marker of immature Sertoli cell number and function during childhood. After puberty, AMH is released especially by the apical pole of the Sertoli cells toward the lumen of the seminiferous tubules, resulting in higher levels in the seminal plasma than in the serum. Recently, AMH has received increasing attention in research on male fertility-related disorders. This article reviews and summarizes the potential contribution of serum AMH measurement in different male fertility-related disorders., Competing Interests: The authors have nothing to disclose and declare that there are no conflicts of interest that could be perceived as prejudicing the impartiality of the research reported., (Thieme. All rights reserved.)

Introduction: Guidelines regarding congenital penile curvature (CPC) are lacking, and this pathology has not been the subject of French recommendations to date. The Andrology and Sexual Medicine Committee (CAMS) of the French Association of Urology (AFU) propose a series of clinical practice recommendations (CPR) by answering five clinical questions concerning the diagnosis and treatment of this pathology., Materials and Methods: After a bibliographic research between 2000 and 2021, followed by a critical reading according to the CRP method. These recommendations were written to answer five questions: (1) What are the different types of CPC? (2) What are the reasons for consultation? (3) What are the assessment methods for CPCs and their consequences? (4) What are the indications for CPCs treatment? (5) What are the corrective modalities for the treatment of CPC?, Results: There are two main phenotypes: CPC type 4 (the most common) and chordee without hypospadias. The diagnosis of CPC is clinical and established through enquiry and clinical examination associated with photos of the erect penis. Support can be offered if the curvature is responsible for a disability and/or sexual dissatisfaction linked to a deformation making penetration difficult and/or in the event of significant psychological impact. Only surgical treatments have demonstrated their effectiveness. For type 4 CPCs, corporoplasty (excisional, incisional, or incisionless techniques) is the gold standard., Conclusion: These recommendations provide support for the management of patients consulting with CPC., (Copyright © 2022 Elsevier Masson SAS. All rights reserved.)

Background: Few studies to date have attempted to measure serum anti-Müllerian hormone (AMH) levels in adult men, and solid references ranges have not yet been defined in a large cohort., Objective: In this study, we aimed, first, to establish the reference ranges for serum AMH and AMH-to-total testosterone ratio (AMH/tT) in adult males. Second, we investigated the relationship between serum AMH and both reproductive hormones and semen parameters., Methods: This single-center retrospective study included 578 normozoospermic adult men. Serum AMH concentrations were determined with an automated sandwich chemiluminescent immunoassay., Results: The median serum AMH was 43.5 pmol/L. The 2.5th and 97.5th percentile values for serum AMH and AMH/tT were 16.4 and 90.3 pmol/L and 0.45 and 3.43, respectively. AMH was positively correlated with inhibin B and sperm concentration and negatively correlated with age, follicle-stimulating hormone (FSH), and progressive sperm motility. Interestingly, using immunofluorescence, we documented for the first time that AMH type II receptor (AMH-R2) is expressed in ejaculated human spermatozoa and gonadotrophic cells in the postmortem pituitary gland., Conclusions: We establish a new age-specific reference range for serum AMH and AMH/tT. Moreover, AMH-R2 expression in human spermatozoa and gonadotrophic cells, together with the relationship between serum AMH levels and sperm motility or mean FSH levels, highlight new potential functions of AMH in regulating sperm motility or FSH secretion in adult men., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society.)

Introduction: Urethroplasty has reported success rates ranging from 60 to 98%. Predictive factors for recurrence are rarely studied, postoperative urinary drainage modalities are not investigated. The primary objective was to evaluate the success rate of urethroplasty in our center. Secondary objectives were to identify recurrence predictive factors., Methods: A single-center retrospective cohort including men treated with urethroplasty for stricture between 2007-2017, followed up for a minimum of 12 months. Recurrence was defined as the necessity of a new procedure (endo-urethral or surgical). Data from penile urethra (SUP) and bulbo-membranous urethra (SUBM) stenosis were analyzed separately. Recurrence-free survival (success) was analyzed according to the Kaplan-Meier model. The characteristics of the patients, the stenosis, the surgical technique, the modalities of postoperative urinary drainage were analyzed in subgroups for the bulbo-membranous urethra looking for a correlation with recurrence., Results: A total of 103 patients included: 25 with SUP, 78 with SUBM. The overall success rate was 69%, CI95% [60-79] with a mean follow-up of 62.85 months. The success was 68%, CI95%[46-82] for SUP, 69.23%, CI95% [58-78] for SUBM. Recurrences occurred during the first 12 months. Only postoperative suprapubic urinary drainage was a predictive factor (HR=0.947, CI95% [0.905-0.992]). A period longer than 14 days reduced recurrence by 37%., Conclusion: Urethroplasty had a success rate of 69%, comparable to published series. Suprapubic urinary drainage improved the surgery outcomes., Level of Proof: 2, Grade B., (Copyright © 2022 Elsevier Masson SAS. All rights reserved.)

Objective: The purpose of this first french guideline is to provide a clinical framework for the diagnosis, treatment and follow-up of anterior urethral strictures. The statements are established by the subgroup working on uro-genital reconstruction surgery (GURU) from the CAMS-AFU (Andrology and Sexual Medicine Committee from the French Association of Urology)., Material and Methods: These guidelines are adapted from the Male Urethral Stricture : American Urological Association Guideline 2016, updated by an additional bibliography from January 2016 to December 2019. Twenty-seven main scenarios seen in clinical practice are identified: from diagnosis, to treatment and follow-up. In addition, this guidelines are powered by anatomical diagrams, treatment algorithms, summaries and follow-up tables., Results: Anterior urethral strictures are a common condition (0,1 à 1,4 %) in men. The diagnosis is based on a trifecta including an examination with patient reported questionnaires, urethroscopy and retrograde urethrography with voiding cystourethrography. Short meatal stenosis can be treated by dilation or meatotomy, otherwise a urethroplasty can be performed. First line treatment of penile strictures is urethroplasty. Short bulbar strictures (<2cm) may benefit from endourethral treatment (direct visual internal urethrotomy or dilation). In case of recurrence or when the stenosis measures more than 2 cm, a urethroplasty will be proposed. Repeated endourethral treatment management are no longer recommended except in case of palliative option. Urethroplasty is usually done with oral mucosa graft as the primary option, in one or two stages approach depending on the extent of the stenosis and the quality of the tissues. Excision and primary anastomosis or non-transecting techniques are discussed for bulbar urethra strictures. Follow-up by clinical monitoring with urethroscopy, or retrograde urethrography with voiding cystourethrography, is performed at least the first year and then on demand according to symptoms., Conclusion: Anterior urethral strictures need an open surgical approach and should be treated by urethroplasty in most cases. This statement requires a major paradigm shift in practices. Training urologist through reconstructive surgery is the next challenge in order to meet the demand., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Background: Although chromosome rearrangements are responsible for spermatogenesis failure, their impact depends greatly on the chromosomes involved. At present, karyotyping and Y chromosome microdeletion screening are the first-line genetic tests for patients with non-obstructive azoospermia. Although it is generally acknowledged that X or Y chromosome rearrangements lead to meiotic arrest and thus rule out any chance of sperm retrieval after a testicular biopsy, we currently lack markers for the likelihood of testicular sperm extraction (TESE) in patients with other chromosome rearrangements., Results: We investigated the use of a single nucleotide polymorphism comparative genome hybridization array (SNP-CGH) and whole-exome sequencing (WES) for two patients with non-obstructive azoospermia and testicular meiotic arrest, a reciprocal translocation: t(X;21) and t(20;22), and an unsuccessful TESE. No additional gene defects were identified for the t(X;21) carrier - suggesting that t(X;21) alone damages spermatogenesis. In contrast, the highly consanguineous t(20;22) carrier had two deleterious homozygous variants in the TMPRSS9 gene; these might have contributed to testicular meiotic arrest. Genetic defect was confirmed with Sanger sequencing and immunohistochemical assessments on testicular tissue sections., Conclusions: Firstly, TMPRSS9 gene defects might impact spermatogenesis. Secondly, as a function of the chromosome breakpoints for azoospermic patients with chromosome rearrangements, provision of the best possible genetic counselling means that genetic testing should not be limited to karyotyping. Given the risks associated with TESE, it is essential to perform WES - especially for consanguineous patients., (© 2021. The Author(s).)

Objective: To assess feasibility, safety and risk factors for failure associated with out-patient surgery for artificial urinary sphincter (AUS) implantation/revision in non-neurogenic men., Materials: In the present retrospective monocentric study conducted between May 2016 and March 2020, 81 patients undergoing AUS implantation or revision during an out-patient surgery were included. The primary outcome was the success rate of out-patient surgery. Success was assessed using two distinct definitions, a narrow definition, where success was defined as a one-day hospitalization and the absence of any unscheduled consultation or re-hospitalization within the 3 days following surgery, a broad definition, where success was defined as a one-day hospitalization and the absence of any unscheduled re-hospitalization within the 3 days following surgery. In parallel, risk factors for failure of out-patient surgery, as well as efficacy and safety were assessed., Results: Eighty-one patients were enrolled, with a mean age of 71.2 years ± 5.9. Out-patient surgery was successfully completed in 58 men (71.6% [95% CI 60.5-81.1]) and in 76 men (93.8% [95% CI 86.2-97.9]) according to the narrow and the broad definition, respectively. After multivariate analysis, anticoagulant therapy (OR 25.97 [95% CI 4.44-152.04]) and low socio-professional status (OR 22.1 [95% CI 3.701-131.95]) were statistically associated with failure of out-patient surgery. The continence rate after a 90-day follow-up was 79%., Conclusion: AUS implantation/revision in non-neurogenic men could be safely proposed in out-patient surgery. Special attention may however be paid to patients undergoing anticoagulant therapy or belonging to a low socio-professional category., Trial Registration Number: DEC20-173 (French National Commission for Data Protection and Liberties)., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Testicular sperm extraction (TESE) is the method of choice for recovering spermatozoa in patients with azoospermia. However, the lack of reliable biomarkers makes it impossible to predict sperm retrieval outcomes at TESE. To date, little attention has been given to anti-Müllerian hormone (AMH) serum levels in adult men with altered spermatogenesis. In this study we aimed to investigate whether serum concentrations of AMH and the AMH to total testosterone ratio (AMH/T) might be predictive factors for sperm retrieval outcomes during TESE in a cohort of 155 adult Caucasian men with azoospermia., Results: AMH serum levels were significantly lower in nonobstructive azoospermia (NOA) that was unexplained, cryptorchidism-related, cytotoxic and genetic (medians [pmol/l] = 30.1; 21.8; 26.7; 7.3; and p = 0.02; 0.001; 0.04; <0.0001, respectively]) compared with obstructive azoospermia (OA) (median = 44.8 pmol/l). Lowest values were observed in cases of genetic NOA (p < 0.0001, compared with unexplained NOA) and especially in individuals with non-mosaic Klinefelter syndrome (median = 2.3 pmol/l, p <0.0001). Medians of AMH/T values were significantly lower in genetic NOA compared to unexplained, cryptorchidism-related NOA as well as OA. Only serum concentrations of AMH differed significantly between positive and negative groups in men with non-mosaic Klinefelter syndrome. The optimal cut-off of serum AMH was set at 2.5 pmol/l. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of this cut-off to predict negative outcomes of SR were 100 %, 76.9 %, 66.6 %, 100 and 84.2 %, respectively., Conclusions: Serum AMH levels, but not AMH/T values, are a good marker for Sertoli and germ cell population dysfunction in adult Caucasian men with non-mosaic Klinefelter syndrome and could help us to predict negative outcomes of SR at TESE with 100 % sensitivity when serum levels of AMH are below 2.5 pmol/l.