I. Hughes, J. Davies, T. Bunch, V. Pasterski, K. Mastroyannopoulou et al., Androgen insensitivity syndrome, The Lancet, vol.380, issue.9851, pp.1419-1428, 2012.
DOI : 10.1016/S0140-6736(12)60071-3

V. Cantagrel, D. Lefeber, B. Ng, Z. Guan, J. Silhavy et al., SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder, Cell, vol.142, issue.2, pp.5-3203, 2010.
DOI : 10.1016/j.cell.2010.06.001

L. Maimoun, P. Philibert, B. Cammas, F. Audran, P. Bouchard et al., Phenotypical, Biological, and Molecular Heterogeneity of 5??-Reductase Deficiency: An Extensive International Experience of 55 Patients, The Journal of Clinical Endocrinology & Metabolism, vol.96, issue.2, pp.296-307, 2011.
DOI : 10.1210/jc.2010-1024

S. Hannema, I. Scott, E. Rajpert-de-meyts, N. Skakkebaek, N. Coleman et al., Testicular development in the complete androgen insensitivity syndrome, The Journal of Pathology, vol.45, issue.4, pp.518-527, 2006.
DOI : 10.1002/path.1890

K. Steger, R. Rey, F. Louis, S. Kliesch, H. Behre et al., Reversion of the differentiated phenotype and maturation block in Sertoli cells in pathological human testis, Human Reproduction, vol.14, issue.1, pp.136-143, 1999.
DOI : 10.1093/humrep/14.1.136

J. Van-brakel, R. Kranse, S. De-muinck-keizer-schrama, A. Hendriks, F. De-jong et al., Fertility potential in men with a history of congenital undescended testes: a long-term follow-up study, Andrology, vol.2, issue.4 Pt 2, pp.100-108, 2013.
DOI : 10.1111/j.2047-2927.2012.00024.x

K. Boukari, G. Meduri, S. Brailly-tabard, J. Guibourdenche, M. Ciampi et al., Lack of Androgen Receptor Expression in Sertoli Cells Accounts for the Absence of Anti-Mullerian Hormone Repression during Early Human Testis Development, The Journal of Clinical Endocrinology & Metabolism, vol.94, issue.5, pp.1818-1825, 2009.
DOI : 10.1210/jc.2008-1909
URL : https://hal.archives-ouvertes.fr/inserm-00366828

H. Chemes, R. Rey, M. Nistal, J. Regadera, M. Musse et al., Physiological Androgen Insensitivity of the Fetal, Neonatal, and Early Infantile Testis Is Explained by the Ontogeny of the Androgen Receptor Expression in Sertoli Cells, The Journal of Clinical Endocrinology & Metabolism, vol.93, issue.11, pp.4408-4412, 2008.
DOI : 10.1210/jc.2008-0915

W. Wigley, J. Prihoda, I. Mowszowicz, B. Mendonca, M. New et al., Natural Mutagenesis Study of the Human Steroid 5.alpha.-Reductase 2 Isoenzyme, Biochemistry, vol.33, issue.5, pp.1265-1270, 1994.
DOI : 10.1021/bi00171a029

J. Sarfati, S. Trabado, L. Rocher, D. Mallet, B. Betari-tabet et al., TEMPORARY REMOVAL: Pelvic MRI in a 17-year-old XY girl with 5-alpha reductase deficiency and a homozygous Gly115Asp mutation in SRD5A2, Annales d'Endocrinologie, vol.72, issue.4, pp.310-313, 2011.
DOI : 10.1016/j.ando.2011.07.001

S. Hannema, I. Scott, J. Hodapp, H. Martin, N. Coleman et al., Residual Activity of Mutant Androgen Receptors Explains Wolffian Duct Development in the Complete Androgen Insensitivity Syndrome, The Journal of Clinical Endocrinology & Metabolism, vol.89, issue.11, pp.5815-5822, 2004.
DOI : 10.1210/jc.2004-0709

G. Pühse, J. Hense, M. Bergmann, and S. Kliesch, Bilateral histological evaluation of exocrine testicular function in men with obstructive azoospermia: condition of spermatogenesis and andrological implications?, Human Reproduction, vol.26, issue.10, pp.2606-2612, 2011.
DOI : 10.1093/humrep/der257

K. Boukari, M. Ciampi, A. Guiochon-mantel, J. Young, M. Lombes et al., Human fetal testis: source of estrogen and target of estrogen action, Human Reproduction, vol.22, issue.7, pp.1885-1892, 2007.
DOI : 10.1093/humrep/dem091
URL : https://hal.archives-ouvertes.fr/inserm-00135609

N. Massin, H. Bry, L. Vija, L. Maione, E. Constancis et al., Healthy birth after testicular extraction of sperm and ICSI from an azoospermic man with mild androgen insensitivity syndrome caused by an androgen receptor partial loss-of-function mutation, Clinical Endocrinology, vol.148, issue.4, pp.593-598, 2012.
DOI : 10.1111/j.1365-2265.2012.04402.x

L. Vija, G. Meduri, E. Comperat, V. Vasiliu, V. Izard et al., Expression and characterization of androgen receptor coregulators, SRC-2 and HBO1, during human testis ontogenesis and in androgen signaling deficient patients, Molecular and Cellular Endocrinology, vol.375, issue.1-2, pp.140-148, 2013.
DOI : 10.1016/j.mce.2013.05.004

J. Regadera, F. Martinez-garcia, R. Paniagua, and M. Nistal, Androgen insensitivity syndrome: an immunohistochemical, ultrastructural, and morphometric study, Arch Pathol Lab Med, vol.123, pp.225-234, 1999.

B. Maymon, L. Yogev, G. Paz, S. Kleiman, L. Schreiber et al., Sertoli cell maturation in men with azoospermia of different etiologies, Fertility and Sterility, vol.77, issue.5, pp.904-909, 2002.
DOI : 10.1016/S0015-0282(02)03060-1

E. Rajpert-de-meyts, N. Jorgensen, N. Graem, J. Muller, R. Cate et al., Expression of Anti-Mullerian Hormone during Normal and Pathological Gonadal Development: Association with Differentiation of Sertoli and Granulosa Cells, Journal of Clinical Endocrinology & Metabolism, vol.84, issue.10, pp.3836-3844, 1999.
DOI : 10.1210/jc.84.10.3836

J. Cantu, E. Corona-rivera, M. Diaz, C. Medina, E. Esquinca et al., Post-pubertal female psychosexual orientation in incomplete male pseudohermaphroditism type 2 (5 alpha-reductase deficiency), Acta Endocrinol, vol.94, pp.273-279, 1980.

J. Imperato-mcginley, R. Peterson, T. Gautier, G. Cooper, R. Danner et al., Hormonal Evaluation of a Large Kindred with Complete Androgen Insensitivity: Evidence for Secondary 5??-Reductase Deficiency*, The Journal of Clinical Endocrinology & Metabolism, vol.54, issue.5, pp.931-941, 1982.
DOI : 10.1210/jcem-54-5-931

J. Imperato-mcginley, R. Peterson, M. Leshin, J. Griffin, G. Cooper et al., Steroid 5??-Reductase Deficiency in a 65-Year-Old Male Pseudohermaphrodite: The Natural History, Ultrastructure of the Testes, and Evidence for Inherited Enzyme Heterogeneity*, The Journal of Clinical Endocrinology & Metabolism, vol.50, issue.1, pp.15-22, 1980.
DOI : 10.1210/jcem-50-1-15

L. Johnson, F. George, W. Neaves, I. Rosenthal, R. Christensen et al., Characterization of the Testicular Abnormality in 5a-Reductase Deficiency*, The Journal of Clinical Endocrinology & Metabolism, vol.63, issue.5, pp.1091-1099, 1986.
DOI : 10.1210/jcem-63-5-1091

F. Kuttenn, I. Mowszowicz, F. Wright, N. Baudot, C. Jaffiol et al., Male Pseudohermaphroditism: A Comparative Study of One Patient with 5??-Reductase Deficiency and Three Patients with the Complete Form of Testicular Feminization*, The Journal of Clinical Endocrinology & Metabolism, vol.49, issue.6, pp.861-865, 1979.
DOI : 10.1210/jcem-49-6-861

E. Okon, N. Livni, A. Rosler, S. Yorkoni, S. Segal et al., Male pseudohermaphroditism due to 5 alpha-reductase deficiency. Ultrastructure of the gonads, Arch Pathol Lab Med, vol.104, pp.363-367, 1980.

R. Peterson, J. Imperato-mcginley, T. Gautier, and E. Sturla, Male pseudohermaphroditism due to steroid 5-alpha-reductase deficienccy

M. Nistal and R. Paniagua, Infertility in adult males with retractile testes**Supported in part by a grant from the Fondo de Investigaciones Sanitarias de la Seguridad Social, Madrid, Spain., Fertility and Sterility, vol.41, issue.3, pp.395-403, 1984.
DOI : 10.1016/S0015-0282(16)47718-6

L. Aksglaede and A. Juul, Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review, European Journal of Endocrinology, vol.168, issue.4, pp.67-76, 2013.
DOI : 10.1530/EJE-12-0934

K. Melo, B. Mendonca, A. Billerbeck, E. Costa, M. Inacio et al., Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene, The Journal of Clinical Endocrinology & Metabolism, vol.88, issue.7, pp.3241-3250, 2003.
DOI : 10.1210/jc.2002-021658

R. Rey, L. Attar, F. Louis, F. Jaubert, P. Barbet et al., Testicular dysgenesis does not affect expression of antimullerian hormone by Sertoli cells in premeiotic seminiferous tubules

E. Stuchi-perez, C. Hackel, L. Oliveira, L. Ferraz, L. Oliveira et al., Diagnosis of 5alpha-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation, J Pediatr Endocrinol Metab, vol.18, pp.1383-1389, 2005.

R. Rey, F. Mebarki, M. Forest, I. Mowszowicz, R. Cate et al., Anti-müllerian hormone in children with androgen insensitivity, J Clin Endocrinol Metab, vol.79, pp.960-964, 1994.

S. Ivarsson, 5-alpha reductase deficient men are fertile, Eur J Ped, vol.15514, p.42543, 1996.

M. Katz, I. Kligman, L. Cai, Y. Zhu, C. Fratianni et al., Paternity by Intrauterine Insemination with Sperm from a Man with 5??-Reductase-2 Deficiency, New England Journal of Medicine, vol.336, issue.14, pp.994-997, 1997.
DOI : 10.1056/NEJM199704033361404

K. Matsubara, H. Iwamoto, A. Yoshida, and T. Ogata, Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5alpha-reductase-2 deficiency, Fertil Steril, vol.94, pp.2770-2777, 2010.

H. Kang, J. Imperato-mcginley, Y. Zhu, L. Cai, P. Schlegel et al., The first successful paternity through in vitro fertilizationintracytoplasmic sperm injection with a man homozygous for the 5alpha-reductase-2 gene mutation, Fertil Steril, vol.95, pp.2125-2125, 2011.

J. Raman and P. Schlegel, Testicular Sperm Extraction with Intracytoplasmic Sperm Injection is Successful for the Treatment of Nonobstructive Azoospermia Associated with Cryptorchidism, The Journal of Urology, vol.170, issue.4, pp.1287-1290, 2003.
DOI : 10.1097/01.ju.0000080707.75753.ec

. Vija, Testicular histological and immunohistochemical aspects in a post-pubertal patient with 5 alpha-reductase type 2 deficiency: case report and review of the literature in a perspective of evaluation of potential fertility of these patients, BMC Endocrine Disorders, vol.170, issue.1, p.43, 2014.
DOI : 10.1097/01.ju.0000080707.75753.ec
URL : https://hal.archives-ouvertes.fr/inserm-00998912