[1. Hughes IA, Houk C, Ahmed SF, Lee PA. Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus G. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006; 2 (3): 148–62.10.1016/j.jpurol.2006.03.004]Search in Google Scholar
[2. Springer A, van den Heijkant M, Baumann S. Worldwide prevalence of hypospadias. J Pediatr Urol. 2016; 12 (3): 152.10.1016/j.jpurol.2015.12.002]Search in Google Scholar
[3. Hutcheson J, Synder HM III. Disorders of Sex Development. 2017. http://emedicine.medscape.com/article/1015520-overview]Search in Google Scholar
[4. Domenice S, Arnhold IJP, Costa EMF et al.. 46,XY Disorders of Sexual Development. [Updated 2017 May 3]. In: De Groot LJ, Chrousos G, Dungan K et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK279170/]Search in Google Scholar
[5. Ahmed SF, Bashamboo A, Lucas-Herald A, McElreavey K. Understanding the genetic aetiology in patients with XY DSD. British Medical Bulletin 2013; 106: 67-89.10.1093/bmb/ldt008]Search in Google Scholar
[6. Aaronson IA. Micropenis: medical and surgical implications. J Urol. 1994 Jul; 152 (1):4-14.10.1016/S0022-5347(17)32804-5]Search in Google Scholar
[7. Kočvara R. Kryptorchizmus. In: Bánovčin P, Buchanec J, Zibolen M. Vybrané kapitoly z nefrológie, Martin, Osveta 2006; 289: 61-69.]Search in Google Scholar
[8. Tošovský VV, Abrahámová J et al.. Kryptorchizmus. Praha, Triton 2004; 180: 52-66.]Search in Google Scholar
[9. Spinoit AF, Claeys T, Bruneel E et al.. Isolated Male Epispadias: Anatomic Functional Restoration Is the Primary Goal. BioMed Research International. 2016; 2016:6983109. doi:10.1155/-2016/6983109.10.1155/2016/6983109]Search in Google Scholar
[10. Gatti JM, Kirsch AJ, Troyer WA et al.. Increased incidence of hypospadias in small-for-gestational age infants in a neonatal intensive-care unit. BJU Int 2001; 87: 548-50.10.1046/j.1464-410X.2001.00088.x]Search in Google Scholar
[11. Ogata T, Wada Y, Fukami M. MAMLD1 (Cxorf6): a new gene for hypospadias. Sex Dev 2008; 2: 244-5.10.1159/00015204018987498]Search in Google Scholar
[12. Thigpen AE, Davis DL, Milatovich A et al.. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. J Clin Invest 1992; 90: 799-809.10.1172/JCI1159543299331522235]Search in Google Scholar
[13. Bouty A, Ayers KL, Pask A et al.. The Genetic and Environmental Factors Underlying Hypospadias. Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 9.5 2015: 239–259. PMC. Web. 26 Mar. 2018.10.1159/000441988501296426613581]Search in Google Scholar
[14. Dong Y, Yi Y, Yao H et al.. Targeted next-Generation Sequencing Identification of Mutations in Patients with Disorders of Sex Development. BMC Medical Genetics 17 2016: 23. PMC. Web. 25 Mar. 2018.10.1186/s12881-016-0286-2479176026980296]Search in Google Scholar
[15. Baxter RM, Arboleda VA, Lee H et al.. Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development. J Clin Endocrinol Metab 2015: E333–E344. PMC. Web. 25 Mar. 2018.10.1210/jc.2014-2605431889525383892]Search in Google Scholar
[16. Eggers S et al. “Disorders of Sex Development: Insights from Targeted Gene Sequencing of a Large International Patient Cohort.” Genome Biology 17 (2016): 243. PMC. Web. 25 Mar. 2018.]Search in Google Scholar
[17. Bergman JE, Janssen N, Hoefsloot LH et al.. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet. 2011 May; 48 (5):334–42.10.1136/jmg.2010.08710621378379]Search in Google Scholar
[18. Mohnach L, Fechner PY, Keegan CE. Nonsyndromic Disorders of Testicular Development. 2008 May 21 [Updated 2016 Jun 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1547/.]Search in Google Scholar
[19. Matsumoto AM et Bremner WJ. Defects in Testosterone Biosynthetic Enzymes. In Williams Textbook of Endocrinology (Thirteenth Edition), 2016.]Search in Google Scholar
[20. Pearlman A, Loke J, Le Caignec C et al.. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet. 2010 Dec 10; 87(6): 898–904.10.1016/j.ajhg.2010.11.003299736321129722]Search in Google Scholar
[21. Bashamboo A, Brauner R, Bignon-Topalovic J et al.. Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. Hum Mol Genet. 2014 Jul 15; 23 (14): 3657–65.10.1093/hmg/ddu07424549039]Search in Google Scholar
[22. Fukami M, Wada Y, Okada M et al.. Mastermind-like domain-containing 1 (MAMLD1 or Cxorf6) transactivates Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. The Journal of Biological Chemistry. 2008; 283 (9): 525–553210.1074/jbc.M70328920018162467]Search in Google Scholar
[23. Fukami M, Wada Y, Miyabayashi K et al.. CXorf6 is a causative gene for hypospadias. Nature Genetics 2006; 38 (12): 1369-1371.10.1038/ng190017086185]Search in Google Scholar
[24. Kalfa N, Fukami M, Philibert P, et al.. Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations. Agoulnik I, ed. PLoS ONE. 2012; 7 (3):e32505. doi:10.1371/journal.pone.0032505.10.1371/journal.pone.0032505331653922479329]Search in Google Scholar
[25. Gottlieb B et Trifiro MA. Androgen Insensitivity Syndrome. 1999 Mar 24 [Updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1429/]Search in Google Scholar
[26. Okeigwe I et Kuohung W. 5-Alpha reductase deficiency: a 40-year retrospective review. Curr Opin Endocrinol Diabetes Obes 2014; 21 (6): 483-7.10.1097/MED.000000000000011625321150]Search in Google Scholar
[27. Allali S, Muller JB, Brauner R et al.. Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46,XY disorders of sex development (DSD) including hypospadias. PLoS One. 2011; 6:e24117.10.1371/journal.pone.0024117319757922028768]Search in Google Scholar
[28. Murayama C, Miyazaki H, Miyamoto A et al.. Involvement of Ad4BP/SF-1, DAX-1, and COUP-TFII transcription factor on steroid production and luteinization in ovarian theca cells. Molecular and Cellular Biochemistry 2008; 314 (1-2): 51–58.10.1007/s11010-008-9764-y18409030]Search in Google Scholar
[29. Bertelloni S, Dati E, Baldinotti F et al.. NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46, XY Disorder of Sex Development. Hormone research in paediatrics. 2014; 81 (2), 104-108.10.1159/000354990]Search in Google Scholar
[30. Wu JY, McGown IN, Lin L et al.. A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development. Clin Endocrinol (Oxf) 2013; 78:545–550.10.1111/cen.12012361375122909003]Search in Google Scholar
[31. Biason-Lauber A. Control of sex development. Best Practice and Research Clinical Endocrinology and Metabolism 2010; 24: 163-186.10.1016/j.beem.2009.12.00220541146]Search in Google Scholar
[32. Tantawy S, Mazen I, Soliman H et al.. Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46, XY disorders of sex development. European Journal of Endocrinology, 2014; 170 (5), 759–767.10.1530/EJE-13-096524591553]Search in Google Scholar
[33. Baetens D, Stoop H, Peelman F et al.. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med 2017; 19(4), 367–376.10.1038/gim.2016.118539259827490115]Search in Google Scholar
[34. Bashamboo A, Ferraz-de-Souza B, Lourenço D et al.. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet. 2010; 87: 505–512. doi: 10.1016/j.ajhg.2010.09.009.10.1016/j.ajhg.2010.09.009294880520887963]Search in Google Scholar