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Swyer,              GI. Male            pseudohermaphroditism: a hitherto undescribed form. BMJ          1955;2: 709\u201312.","DOI":"10.1136\/bmj.2.4941.709"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Michala,              L, Goswami,                D,                Creighton,              SM, Conway,                GS. Swyer            syndrome: presentation and outcomes. BJOG          2008;115: 737\u201341.","DOI":"10.1111\/j.1471-0528.2008.01703.x"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Hersmus,              R, de Leeuw,                BH, Stoop,                H, Bernard,                P, van                Doorn, HC,                Br\u00fcggenwirth,              HT, et al.            A novel SRY missense mutation affecting nuclear import in a 46,XY female            patient with bilateral gonadoblastoma. Eur J Hum Genet          2009;17: 1642\u20139.","DOI":"10.1038\/ejhg.2009.96"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Wilhelm,              D, Palmer,                S, Koopman,                P. Sex            determination and gonadal development in mammals. Physiol            Rev          2007;87: 1\u201328.","DOI":"10.1152\/physrev.00009.2006"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Josso,              N, Rey,                RA. What does            AMH tell us in pediatric disorders of sex development?Front            Endocrinol (Lausanne)          2020;11: 619.","DOI":"10.3389\/fendo.2020.00619"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Hughes,              IA, Houk,                C, Ahmed,                SF, Lee,                PA, LWPES            Consensus GroupESPE Consensus Group.            Consensus statement on management of intersex disorders.            Arch Dis Child          2006;91: 554\u201363.","DOI":"10.1136\/adc.2006.098319"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Malhotra,                N, Dadhwal,                V, Sharma,                KA, Gupta,                D, Agarwal,                S, Deka,                D. The            laparoscopic management of Swyer syndrome: Case series. J Turk            Ger Gynecol Assoc          2015;16: 252\u20136.","DOI":"10.5152\/jtgga.2015.15061"},{"key":"8","unstructured":"8. Prader,              A. Genital            findings in the female pseudo-hermaphroditism of the congenital adrenogenital syndrome;            morphology, frequency, development and heredity of the different genital            forms. Helv Paediatr Acta          1954;9: 231\u201348 (in German)."},{"key":"9","unstructured":"9. Schmitt-Ney,                M, Thiele,                H,                Kaltwasser,              P, Bardoni,                B,                Cisternino,              M, Scherer,                G. Two novel            SRY missense mutations reducing DNA binding identified in XY females and their mosaic            fathers. Am J Hum Genet          1995;56: 862\u20139."},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Ono,              M, Harley,                VR. Disorders            of sex development: new genes, new concepts. Nat Rev            Endocrinol          2013;9: 79\u201391.","DOI":"10.1038\/nrendo.2012.235"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Baxter,              RM, Arboleda,                VA, Lee,                H,                Barseghyan,              H, Adam,                MP,              Fechner, PY,              et al. Exome sequencing for the diagnosis            of 46,XY disorders of sex development. J Clin Endocrinol            Metab          2015;100: E333\u201344.","DOI":"10.1210\/jc.2014-2605"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Bastian,              C, Muller,                JB,                Lortat-Jacob,              S,                Nihoul-F\u00e9k\u00e9t\u00e9,              C,                Bignon-Topalovic,              J,              McElreavey,            K, et al.            Genetic mutations and somatic anomalies in association with 46,XY gonadal            dysgenesis. Fertil Steril          2015;103: 1297\u2013304.","DOI":"10.1016\/j.fertnstert.2015.01.043"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Harley,              VR, Clarkson,                MJ,                Argentaro,              A. The            molecular action and regulation of the testis-determining factors, SRY (sex-determining            region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box            9][SRY-Related High-Mobility Group (HMG) Box 9].            Endocr Rev          2003;24: 466\u201387.","DOI":"10.1210\/er.2002-0025"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Fan,              W, Wang,                B, He,                S, Zhang,                T, Yin,                C, Chen,                Y, et al.            A novel missense mutation 224G>T (R75M) in SRY coding region            interferes with nuclear import and results in 46, XY complete gonadal            dysgenesis. PLoS One          2016;11: e0168484.","DOI":"10.1371\/journal.pone.0168484"},{"key":"15","unstructured":"15. Hawkins,                JR, Taylor,                A,                Goodfellow,              PN, Migeon,                CJ, Smith,                KD,                Berkovitz,              GD. Evidence            for increased prevalence of SRY mutations in XY females with complete rather than            partial gonadal dysgenesis. Am J Hum Genet          1992;51: 979\u201384."},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Imai,              A, Takagi,                A, Tamaya,                T. A novel            sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and            also in the father. 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