World Health Organization (WHO). Infertility Prevalence Estimates, 1990–2021 [Internet]. Geneva: World Health Organization (WHO). 2023 Apr pp. 1–79. https://www.who.int/publications/i/item/978920068315.
Steptoe PC, Edwards RG. Birth after the reimplantation of a human embryo. Lancet Lond Engl. 1978;2:366.
Palermo G, Joris H, Devroey P, Van Steirteghem AC. Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet Lond Engl. 1992;340:17–8.
Steptoe PC, Edwards RG, Purdy JM. Clinical aspects of pregnancies established with cleaving embryos grown in vitro. Br J Obstet Gynaecol. 1980;87:757–68.
Article CAS PubMed Google Scholar
Krausz C, Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018;15:369–84.
Article CAS PubMed Google Scholar
Yatsenko SA, Rajkovic A. Genetics of human female infertility. Biol Reprod. 2019;101:549–66.
Article PubMed PubMed Central Google Scholar
Bhakta HH, Refai FH, Avella MA. The molecular mechanisms mediating mammalian fertilization. Development. 2019;146:dev176966.
Article CAS PubMed Google Scholar
Fakhro KA, Elbardisi H, Arafa M, Robay A, Rodriguez-Flores JL, Al-Shakaki A, et al. Point-of-care whole-exome sequencing of idiopathic male infertility. Genet Med off J Am Coll Med Genet. 2018;20:1365–73.
Jiao S-Y, Yang Y-H, Chen S-R. Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice. Hum Reprod Update. 2021;27:154–89.
Article CAS PubMed Google Scholar
Capel B. Vertebrate sex determination: evolutionary plasticity of a fundamental switch. Nat Rev Genet. 2017;18:675–89.
Article CAS PubMed Google Scholar
Garcia-Alonso L, Lorenzi V, Mazzeo CI, Alves-Lopes JP, Roberts K, Sancho-Serra C, et al. Single-cell roadmap of human gonadal development. Nature. 2022;607:540–7.
Article CAS PubMed PubMed Central Google Scholar
Tran D, Muesy-Dessole N, Josso N. Anti-Müllerian hormone is a functional marker of foetal sertoli cells. Nature. 1977;269:411–2.
Article CAS PubMed Google Scholar
Sekido R, Lovell-Badge R. Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature. 2008;453:930–4.
Article CAS PubMed Google Scholar
Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R. Dax1 antagonizes sry action in mammalian sex determination. Nature. 1998;391:761–7.
Article CAS PubMed Google Scholar
Nachtigal MW, Hirokawa Y, Enyeart-VanHouten DL, Flanagan JN, Hammer GD, Ingraham HA. Wilms’ tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Cell. 1998;93:445–54.
Article CAS PubMed Google Scholar
Subrini J, Turner J. Y chromosome functions in mammalian spermatogenesis. Capel B, Cheah KSE, editors. eLife. 2021;10:e67345.
Köhler B, Lin L, Ferraz-de-Souza B, Wieacker P, Heidemann P, Schröder V, et al. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Hum Mutat. 2008;29:59–64.
Article PubMed PubMed Central Google Scholar
Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, et al. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet. 1994;7:497–501.
Article CAS PubMed Google Scholar
Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ. A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. N Engl J Med. 2004;351:792–8.
Article CAS PubMed Google Scholar
Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S, et al. R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet. 2006;38:1304–9.
Article CAS PubMed Google Scholar
Zhao F, Franco HL, Rodriguez KF, Brown PR, Tsai M-J, Tsai SY, et al. Elimination of the male reproductive tract in the female embryo is promoted by COUP-TFII in mice. Science. 2017;357:717–20.
Article CAS PubMed PubMed Central Google Scholar
Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi J-P, Hyon C, et al. Loss of function of the Nuclear receptor NR2F2, Encoding COUP-TF2, causes Testis Development and Cardiac defects in 46,XX children. Am J Hum Genet. 2018;102:487–93.
Article CAS PubMed PubMed Central Google Scholar
Carvalheira G, Malinverni AM, Moysés-Oliveira M, Ueta R, Cardili L, Monteagudo P, et al. The natural history of a Man with Ovotesticular 46,XX DSD caused by a Novel 3-Mb 15q26.2 deletion containing NR2F2 gene. J Endocr Soc. 2019;3:2107–13.
Article PubMed PubMed Central Google Scholar
Armendares S, Buentello L, Frenk S. Two male sibs with uterus and fallopian tubes. A rare, probably inherited disorder. Clin Genet. 1973;4:291–6.
Article CAS PubMed Google Scholar
Beheshti M, Churchill BM, Hardy BE, Bailey JD, Weksberg R, Rogan GF. Familial persistent müllerian duct syndrome. J Urol. 1984;131:968–9.
Article CAS PubMed Google Scholar
Behringer RR, Finegold MJ, Cate RL. Müllerian-inhibiting substance function during mammalian sexual development. Cell. 1994;79:415–25.
Article CAS PubMed Google Scholar
Brook CG, Wagner H, Zachmann M, Prader A, Armendares S, Frenk S, et al. Familial occurrence of persistent mullerian structures in otherwise normal males. Br Med J. 1973;1:771–3.
Article CAS PubMed PubMed Central Google Scholar
Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, et al. A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. Hum Mol Genet. 1996;5:1269–77.
Article CAS PubMed Google Scholar
Bhangoo A, Wilson R, New MI, Ten S. Donor splice mutation in the 11beta-hydroxylase (CypllB1) gene resulting in sex reversal: a case report and review of the literature. J Pediatr Endocrinol Metab JPEM. 2006;19:1267–82.
Article CAS PubMed Google Scholar
Curnow KM, Slutsker L, Vitek J, Cole T, Speiser PW, New MI, et al. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci U S A. 1993;90:4552–6.
Article CAS PubMed PubMed Central Google Scholar
Sipilä P, Junnila A, Hakkarainen J, Huhtaniemi R, Mairinoja L, Zhang FP, et al. The lack of HSD17B3 in male mice results in disturbed Leydig cell maturation and endocrine imbalance akin to humans with HSD17B3 deficiency. FASEB J off Publ Fed Am Soc Exp Biol. 2020;34:6111–28.
Hancock GV, Wamaitha SE, Peretz L, Clark AT. Mammalian primordial germ cell specification. Dev Camb Engl. 2021;148:dev189217.
Yan Z, Delannoy M, Ling C, Daee D, Osman F, Muniandy PA, et al. A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability. Mol Cell. 2010;37:865–78.
Article CAS PubMed PubMed Central Google Scholar
Yin H, Ma H, Hussain S, Zhang H, Xie X, Jiang L, et al. A homozygous FANCM frameshift pathogenic variant causes male infertility. Genet Med off J Am Coll Med Genet. 2019;21:62–70.
Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, et al. Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia. Am J Hum Genet. 2018;103:200–12.
Article CAS PubMed PubMed Central Google Scholar
Luo Y, Hartford SA, Zeng R, Southard TL, Shima N, Schimenti JC. Hypersensitivity of primordial germ cells to compromised replication-associated DNA repair involves ATM-p53-p21 signaling. PLoS Genet. 2014;10:e1004471.
Article PubMed PubMed Central Google Scholar
Law NC, Oatley JM. Developmental underpinnings of spermatogonial stem cell establishment. Andrology. 2020;8:852–61.
Article PubMed PubMed Central Google Scholar
Fayomi AP, Orwig KE. Spermatogonial stem cells and spermatogenesis in mice, monkeys and men. Stem Cell Res. 2018;29:207–14.
Article CAS PubMed PubMed Central Google Scholar
Ciccarelli M, Giassetti MI, Miao D, Oatley MJ, Robbins C, Lopez-Biladeau B, et al. Donor-derived spermatogenesis following stem cell transplantation in sterile NANOS2 knockout males. Proc Natl Acad Sci U S A. 2020;117:24195–204.
留言 (0)