F. Zegers-hochschild, The International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) Revised Glossary on ART Terminology, Hum. Reprod, vol.24, issue.11, pp.2683-2687, 2009.

M. Bendayan, Gynecol. Obstet. Fertil. Senol, vol.46, issue.1, pp.47-56, 2018.

J. Hotaling and D. T. Carrell, « Clinical genetic testing for male factor infertility: current applications and future directions, Andrology, vol.2, issue.3, pp.339-350, 2014.

, Practice Committee of the American Society for Reproductive Medicine in collaboration with the Society for Male Reproduction and Urology, « Evaluation of the azoospermic male: a committee opinion, Fertil. Steril, vol.109, issue.5, pp.777-782, 2018.

C. Coat, « [Azoospermia: management and results: a series of 90 cases], Progres En Urol. J. Assoc. Francaise Urol. Soc. Francaise Urol, vol.21, pp.946-954, 2011.

A. Georges, M. Commenges, A. Papaxanthos, C. Matthieu, and J. L. Pariente,

«. Bordenave, Intérêt du dosage d'inhibine B dans l'exploration d'une stérilité masculine grave en vue d'AMP », Immuno-Anal, Biol. Spéc, vol.17, issue.3, pp.176-180, 2002.

J. Schlosser, I. Nakib, F. Carré-pigeon, and F. Staerman, « [Male infertility: definition and pathophysiology] », Ann. Urol, vol.41, issue.3, pp.127-133, 2007.

Y. Fulla, J. Auger, S. Allali, L. Nonnenmacher, P. Jouannet et al., Inhibine B sérique, marqueur sensible de la production spermatique chez l'homme, Andrologie, vol.11, issue.1, p.21, 2001.

M. Vincent, « Cytogenetic Investigations of Infertile Men With Low Sperm Counts: A 25-Year Experience, J. Androl, vol.23, issue.1, pp.18-22, 2002.

C. Krausz, L. Hoefsloot, M. Simoni, and F. Tüttelmann, European Academy of Andrology, et European Molecular Genetics Quality Network, « EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art, Andrology, vol.2, issue.1, pp.5-19, 2013.

J. P. Siffroi, S. Chantot-bastaraud, and E. C. Ravel, « [Genetic origin of spermatogenesis impairments: clinical aspects and relationships with mouse models of infertility] », Gynecol. Obstet. Fertil, vol.31, issue.6, pp.504-515, 2003.

H. Lejeune, A. Brosse, G. Fertipreserve, I. Plotton, ;. et al., , vol.43, pp.162-170, 1983.

R. B. Sciurano, « Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients, Hum. Reprod. Oxf. Engl, vol.24, issue.9, pp.2353-2360, 2009.

I. Plotton, A. Brosse, B. Cuzin, H. Lejeune, and T. Klinefelter-syndrome, Ann. Endocrinol, vol.75, issue.2, pp.118-125, 2014.

L. Aksglaede, A. M. Wikström, E. Rajpert-de-meyts, L. Dunkel, N. E. Skakkebaek et al., « Natural history of seminiferous tubule degeneration in Klinefelter syndrome, Hum. Reprod. Update, vol.12, issue.1, pp.39-48, 2006.

A. Rock, F. Marcelli, G. Robin, V. Mitchell, C. Leroy et al., « [Clinical and paraclinical features of Klinefelter syndrome consulting for male infertility] », Progres En Urol, J. Assoc. Francaise Urol. Soc. Francaise Urol, vol.24, pp.757-763, 2014.

H. Tournaye, « Testicular sperm recovery in nine 47,XXY Klinefelter patients, Hum. Reprod. Oxf. Engl, vol.11, issue.8, pp.1644-1649, 1996.

S. Friedler, A. Raziel, D. Strassburger, M. Schachter, O. Bern et al., « Outcome of ICSI using fresh and cryopreserved-thawed testicular spermatozoa in patients with nonmosaic Klinefelter's syndrome », Hum. Reprod, vol.16, pp.2616-2620, 2001.

S. Gunes, XX Testicular Disorder of Sex Development », Syst. Biol. Reprod. Med, vol.46, issue.1, pp.42-47, 2013.

L. Martinerie, « Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys », Eur. J. Endocrinol, vol.166, issue.4, pp.687-694, 2012.

D. Sanlaville and C. Turleau, « Types, fréquences et mécanismes de formation des anomalies chromosomiques

D. Sur,

R. Suganthi, V. V. Vijesh, N. Vandana, J. Fathima-ali-benazir, and «. , Choromosomal Microdeletion Screening in The Workup of Male Infertility and Its Current Status in India », Int. J. Fertil. Steril, vol.7, issue.4, pp.253-266, 2014.

M. Simoni, F. Tüttelmann, J. Gromoll, and E. E. Nieschlag, « Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience, Reprod. Biomed. Online, vol.16, issue.2, pp.289-303, 2008.

A. M. Matsumoto, W. J. Bremner, ;. S. Chapter, K. S. Melmed, P. R. Polonsky et al., Williams Textbook of Endocrinology

M. Kronenberg, . Éd, and . Philadelphia, Content Repository Only!, pp.694-784, 2016.

S. E. Kleiman, « Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?, Fertil. Steril, vol.98, issue.1, pp.43-47, 2012.

B. Maurer and M. Simoni, « Y chromosome microdeletion screening in infertile men, J. Endocrinol. Invest, vol.23, issue.10, pp.664-670, 2000.

L. Visser, « Y chromosome gr/gr deletions are a risk factor for low semen quality, Hum. Reprod. Oxf. Engl, vol.24, issue.10, pp.2667-2673, 2009.

J. R. Riordan, « Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA, Science, vol.245, pp.1066-1073, 1989.

D. C. Gadsby, P. Vergani, and L. Csanády, « The ABC protein turned chloride channel whose failure causes cystic fibrosis, Nature, vol.440, pp.477-483, 2006.

H. Corvol, J. Taytard, O. Tabary, P. L. Rouzic, L. Guillot et al., « Les enjeux de la médecine personnalisée appliquée à la mucoviscidose, Arch. Pédiatrie, vol.22, issue.7, pp.778-786, 2015.

, Mucoviscidose chez l'enfant

D. Sur,

H. Cai, « CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies, Genet. Med, p.1, 2018.

Y. Sajjad, « Development of the genital ducts and external genitalia in the early human embryo, J. Obstet. Gynaecol. Res, vol.36, issue.5, pp.929-937, 2010.

D. G. Darcy, M. Yao-cohen, T. R. Olson, and S. A. Downie, « Unilateral Complete Agenesis of Mesonephric Duct Derivatives in an 82-year-Old Male Cadaver: Embryology, Anatomy and Clinical Considerations, Urol. Case Rep, vol.15, pp.20-22, 2017.

S. Bouyé, « [Andrological description of a population of azoospermic men with agenesis of the vas deferens], Progres En Urol. J. Assoc. Francaise Urol. Soc. Francaise Urol, vol.24, issue.2, pp.132-137, 2014.

J. Zielenski, « Genotype and phenotype in cystic fibrosis », Respir, Int. Rev. Thorac. Dis, vol.67, issue.2, pp.117-133, 2000.

M. Bouhamdan1, X. Youming2, and F. Sun1, Structure-Function Relationships of CFTR in Health and Disease: The Pancreas Story », Pancreapedia Exocrine Pancreas Knowl, 2018.

F. A. Marson, C. S. Bertuzzo, and J. D. Ribeiro, « Classification of CFTR mutation classes, Lancet Respir. Med, vol.4, issue.8, pp.37-38, 2016.

S. Ellard, Best Practice Guidelines for Variant Classification, p.16, 2018.

L. M. Amendola, « Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium », Am. J. Hum. Genet, vol.99, issue.1, p.247, 2016.

G. Veit, « From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations, Mol. Biol. Cell, vol.27, issue.3, pp.424-433, 2016.

D. A. Souza, F. R. Faucz, L. Pereira-ferrari, V. S. Sotomaior, and E. S. Raskin, « Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling, Andrology, vol.6, issue.1, pp.127-135, 2018.

H. Cuppens and J. Cassiman, « CFTR mutations and polymorphisms in male infertility, Int. J. Androl, vol.27, issue.5, pp.251-256, 2004.

V. Mak, K. A. Jarvi, J. Zielenski, P. Durie, and L. C. Tsui, « Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens, Hum. Mol. Genet, vol.6, pp.2099-2107, 1997.

E. Dequeker, « Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations », Eur. J. Hum. Genet. EJHG, vol.17, issue.1, pp.51-65, 2009.

O. Patat, « Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens », Am. J. Hum. Genet, vol.99, issue.2, pp.437-442, 2016.

B. Davies, « Targeted deletion of the epididymal receptor HE6 results in fluid dysregulation and male infertility, Mol. Cell. Biol, vol.24, pp.8642-8648, 2004.

P. Yuan, « Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles, Andrology, vol.0, p.0

R. I. Mclachlan and M. K. O'bryan, « State of the Art for Genetic Testing of Infertile Men, J. Clin. Endocrinol. Metab, vol.95, issue.3, pp.1013-1024, 2010.

, Practice Committee of the American Society for Reproductive Medicine, « Diagnostic evaluation of the infertile male: a committee opinion, Fertil. Steril, vol.103, issue.3, pp.18-25, 2015.

C. , L. Caignec, and . Caryotype-humain, , p.8, 2010.

S. Kebir and ». Le-caryotype,

, Guide de bonnes pratiques en cytogénétique Version 3 -2014, pp.1-74, 2014.

V. Malan and S. Romana, « Diagnostic des anomalies chromosomiques par CGH array en pathologie constitutionnelle : la fin du caryotype en première intention, Arch. Pédiatrie, vol.19, issue.4, pp.437-442, 2012.

, « Arrêté du 30 juin 2017 modifiant l'arrêté du 11 avril 2008 modifié relatif aux règles de bonnes pratiques cliniques et biologiques d'assistance médicale à la procréation

R. Flannigan, P. V. Bach, and P. N. Schlegel, « Microdissection testicular sperm extraction, Transl. Androl. Urol, vol.6, issue.4, pp.745-752, 2017.

M. Grynberg, « [Non-obstructive azoospermia: option of the testicular sperm extraction performed on the day of oocyte retrieval], J. Gynecol. Obstet. Biol. Reprod. (Paris), vol.40, issue.2, pp.130-136, 2011.

«. Anpgm, . Bonnes, . Des, A. Gene-cftr-», and . Moleculaire,

D. Sur,

, de prise en charge des femmes enceintes et des couples, d'organisation et de fonctionnement des centres pluridisciplinaires de diagnostic prénatal en matière de diagnostic prénatal et de diagnostic préimplantatoire, « Arrêté du 1er juin 2015 déterminant les recommandations de bonnes pratiques relatives aux modalités d'accès

E. M. Dahdouh, J. Balayla, and F. Audibert, « Mise à jour technique : Diagnostic et dépistage génétiques préimplantatoires, J. Obstet. Gynaecol. Can. JOGC J. Obstet. Gynecol. Can. JOGC, vol.38, 2016.

D. Beauvillard, « [Congenital bilateral absence of vas deferens: From diagnosis to assisted reproductive techniques -the experience of three centers] », Gynecol. Obstet. Fertil, vol.43, issue.5, pp.367-374, 2015.

C. Bombieri, « Recommendations for the classification of diseases as CFTRrelated disorders, J. Cyst. Fibros. Off. J. Eur. Cyst. Fibros. Soc, vol.10, issue.2, pp.86-102, 2011.

P. N. Schlegel, D. Shin, and M. Goldstein, « Urogenital anomalies in men with congenital absence of the vas deferens, J. Urol, vol.155, issue.5, pp.1644-1648, 1996.

A. De-la-taille, « Correlation between genito-urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens, Br. J. Urol, vol.81, issue.4, pp.614-619, 1998.

S. Y. Kim, H. J. Kim, B. Y. Lee, S. Y. Park, H. S. Lee et al., Chromosome Microdeletions in Infertile Men with Non-obstructive Azoospermia and Severe Oligozoospermia, J. Reprod. Infertil, vol.18, issue.3, pp.307-315, 2017.

D. Lo-giacco, « Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory », Eur. J. Hum. Genet, vol.22, issue.6, pp.754-761, 2014.

D. A. Gaillard, « Normal vas deferens in fetuses with cystic fibrosis, J. Urol, vol.158, issue.4, pp.1549-1552, 1997.

M. Rosenfeld, « Ivacaftor treatment of cystic fibrosis in children aged 12 to <24 months and with a CFTR gating mutation (ARRIVAL): a phase 3 single-arm study, Lancet Respir. Med, vol.6, issue.7, pp.545-553, 2018.

X. Sun, « Disease phenotype of a ferret CFTR-knockout model of cystic fibrosis, J. Clin. Invest, vol.120, issue.9, pp.3149-3160, 2010.

F. Pierucci-alves, V. Akoyev, J. C. Stewart, L. Wang, K. S. Janardhan et al.,

«. Schultz, Swine models of cystic fibrosis reveal male reproductive tract phenotype at birth », Biol. Reprod, vol.85, issue.3, pp.442-451, 2011.

M. Aarabi, M. H. Modarressi, H. Soltanghoraee, R. Behjati, N. Amirjannati et al., « Testicular expression of synaptonemal complex protein 3 (SYCP3) messenger ribonucleic acid in 110 patients with nonobstructive azoospermia, Fertil. Steril, vol.86, issue.2, pp.325-331, 2006.

L. Yuan, J. G. Liu, J. Zhao, E. Brundell, B. Daneholt et al., « The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility, Mol. Cell, vol.5, issue.1, pp.73-83, 2000.

H. Gurkan, F. Aydin, A. Kad?oglu, and E. S. Palanduz, « Investigation of mutations in the synaptonemal complex protein 3 (SYCP3) gene among azoospermic infertile male patients in the Turkish population, Andrologia, vol.45, issue.2, pp.92-100, 2013.

M. A. Jobling and C. Tyler-smith, « Human Y-chromosome variation in the genomesequencing era, Nat. Rev. Genet, vol.18, issue.8, pp.485-497, 2017.

E. Scalici, Gynecol. Obstet. Fertil, vol.43, issue.9, pp.593-598, 2015.

J. S. Chou, J. D. Jacobson, W. C. Patton, A. King, and P. J. Chan, « Modified Isocratic Capillary Electrophoresis Detection of Cell-free DNA in Semen, J. Assist. Reprod. Genet, vol.21, issue.11, pp.397-400, 2004.

H. Li, S. Huang, H. Zhou, A. Liao, and C. Xiong, « Quick recovery and characterization of cell-free DNA in seminal plasma of normozoospermia and azoospermia: implications for non-invasive genetic utilities », Asian J. Androl, vol.11, issue.6, pp.703-709, 2009.

Z. He, M. Kokkinaki, D. Pant, G. I. Gallicano, and M. Dym, « Small RNA molecules in the regulation of spermatogenesis, Reproduction, vol.137, issue.6, pp.901-911, 2009.

M. D. Papaioannou and S. Nef, « microRNAs in the Testis: Building Up Male Fertility, vol.31, pp.26-33, 2010.

C. Wang, « Altered Profile of Seminal Plasma MicroRNAs in the Molecular Diagnosis of Male Infertility », vol.57, pp.1722-1731, 2011.

F. Bouhallier, « Role of miR-34c microRNA in the late steps of spermatogenesis, RNA, vol.16, issue.4, pp.720-731

W. Wu, « Seminal plasma microRNAs: potential biomarkers for spermatogenesis status, MHR Basic Sci. Reprod. Med, vol.18, issue.10, pp.489-497, 2012.

W. Wu, « Genome-wide microRNA expression profiling in idiopathic nonobstructive azoospermia: significant up-regulation of miR-141, miR-429 and miR-7-1-3p », Hum. Reprod, vol.28, issue.7, pp.1827-1836, 2013.

G. M. Buchold, C. Coarfa, J. Kim, A. Milosavljevic, P. H. Gunaratne et al., Analysis of MicroRNA Expression in the Prepubertal Testis, PLoS ONE, vol.5, p.12

, Annexe 4 Caractéristiques du groupe de patients avec microdélétion du chromosome Y (n=3)

, Annexe 5 Caractéristiques du groupe de patients ne répondant pas à tous les critères biologiques de l'ABCD