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Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, <i>et al<\/i>. (2006) CXorf6 is a causative gene for hypospadias.<i> Nat Genet<\/i> 38: 1369-1371.","DOI":"10.1038\/ng1900"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Camats N, Fernandez-Cancio M, Audi L, Mullis PE, Moreno F, <i>et al<\/i>. (2015) Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype. <i>PLoS One<\/i> 10: e0142831.","DOI":"10.1371\/journal.pone.0142831"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Igarashi M, Wada Y, Kojima Y, Miyado M, Nakamura M, <i>et al<\/i>. (2015) Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias. <i>Sex Dev<\/i> 9: 130-135.","DOI":"10.1159\/000380842"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Kalfa N, Fukami M, Philibert P, Audran F, Pienkowski C, <i>et al<\/i>. (2012) Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations. <i>PLoS One<\/i> 7: e32505.","DOI":"10.1371\/journal.pone.0032505"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Kalfa N, Liu B, Klein O, Audran F, Wang MH, <i>et al<\/i>. (2008) Mutations of CXorf6 are associated with a range of severities of hypospadias. <i>Eur J Endocrinol<\/i> 159: 453-458.","DOI":"10.1530\/EJE-08-0085"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Fukami M, Wada Y, Okada M, Kato F, Katsumata N, <i>et al<\/i>. (2008) Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. <i>J Biol Chem <\/i>283: 5525-5532.","DOI":"10.1074\/jbc.M703289200"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Parker KL, Schimmer BP (1997) Steroidogenic factor 1: a key determinant of endocrine development and function. <i>Endocr Rev<\/i> 18: 361-377.","DOI":"10.1210\/edrv.18.3.0301"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Miyado M, Nakamura M, Miyado K, Morohashi K, Sano S, <i>et al<\/i>. (2012) Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development. <i>Endocrinology<\/i> 153: 6033-6040.","DOI":"10.1210\/en.2012-1324"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Nakamura M, Fukami M, Sugawa F, Miyado M, Nonomura K, <i>et al<\/i>. (2011) Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells. <i>PLoS One<\/i> 6: e19123.","DOI":"10.1371\/journal.pone.0019123"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Hasegawa Y (1999) Normal values in an hCG stimulation test. In: Hasegawa Y (ed) Let&rsquo;s enjoy pediatric endocrinology (3rd). Shindan to Chiryou-sha, Tokyo: 260-262 (In Japanese).","DOI":"10.1016\/S0021-5198(19)35060-7"},{"key":"11","unstructured":"11. Dean HJ (1989) Abnormalities of pubertal development. In: Collen R (ed) Pediatric Endocrinology (2nd). Rauer Dress, New York: 333-368."},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Ishii T, Matsuo N, Inokuchi M, Hasegawa T (2014) A cross-sectional growth reference and chart of stretched penile length for Japanese boys aged 0-7 years. <i>Horm Res Paediatr<\/i> 82: 388-393.","DOI":"10.1159\/000368965"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Matsuo N, Anzo M, Sato S, Ogata T, Kamimaki T (2000) Testicular volume in Japanese boys up to the age of 15 years. <i>Eur J Pediatr<\/i> 159: 843-845.","DOI":"10.1007\/PL00008350"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Matsumoto AM, Bremner WJ. Testocular disorders (2011) In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HN (eds) Williams Textbook of Endocrinology (13th). Elsevier, Philadelphia: 694-784.","DOI":"10.1016\/B978-1-4377-0324-5.00019-5"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Svechnikov K, Landreh L, Weisser J, Izzo G, Colon E, <i>et al<\/i>. (2010) Origin, development and regulation of human Leydig cells. <i>Horm Res Paediatr <\/i>73: 93-101.","DOI":"10.1159\/000277141"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Tan MH, Eng C (2011) Testicular microlithiasis: recent advances in understanding and management. <i>Nat Rev Urol<\/i> 8: 153-163.","DOI":"10.1038\/nrurol.2011.1"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Aizenstein RI, DiDomenico D, Wilbur AC, O&rsquo;Neil HK (1998) Testicular microlithiasis: association with male infertility. <i>J Clin Ultrasound<\/i> 26: 195-198.","DOI":"10.1002\/(SICI)1097-0096(199805)26:4<195::AID-JCU3>3.0.CO;2-8"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Vachon L, Fareau GE, Wilson MG, Chan LS (2006) Testicular microlithiasis in patients with Down syndrome. <i>J Pediatr <\/i>149: 233-236.","DOI":"10.1016\/j.jpeds.2006.03.051"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Aizenstein RI, Hibbeln JF, Sagireddy B, Wilbur AC, O&rsquo;Neil HK (1997) Klinefelter&rsquo;s syndrome associated with testicular microlithiasis and mediastinal germ-cell neoplasm. <i>J Clin Ultrasound<\/i> 25: 508-510.","DOI":"10.1002\/(SICI)1097-0096(199711\/12)25:9<508::AID-JCU9>3.0.CO;2-R"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Shima Y, Miyabayashi K, Haraguchi S, Arakawa T, Otake H, <i>et al<\/i>. (2013) Contribution of Leydig and Sertoli cells to testosterone production in mouse fetal testes. <i>Mol Endocrinol<\/i> 27: 63-73.","DOI":"10.1210\/me.2012-1256"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Eiholzer U, l&rsquo;Allemand D, Rousson V, Schlumpf M, Gasser T, <i>et al<\/i>. (2006) Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhart- Willi syndrome. <i>J Clin Endocrinol Metab<\/i> 91: 892-898.","DOI":"10.1210\/jc.2005-0902"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Grinspon RP, Bedecarras P, Ballerini MG, Iniguez G, Rocha A, <i>et al<\/i>. (2011) Early onset of primary hypogonadism revealed by serum anti-Mullerian hormone determination during infancy and childhood in trisomy 21. <i>Int J Androl <\/i>34: e487-498.","DOI":"10.1111\/j.1365-2605.2011.01210.x"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. 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