1 林允寿,冯唯,李克秋等.性反转综合征患者SRY、WT1及SOX9基因检测.中国优生与遗传杂志,2015,23(8):24-26. 2 Delachapelle A,Hortling H,Niemi M,et al.XX sex chromosomes in a human male.First case.Acta Med Scand,1964,175:Suppl 412:25-28. 3 Rajender S,Rajani V,Gupta NJ,et a1. SRY-negative 46,XX male with normal genital,complete masculinization and infertility.Mol Hum Reprod,2006,12(5):341-346. 4 Vorona E,Zitzmann M,Gromoll J,et a1. Clinical,endoerinological,and epigenetic features of the 46,XX male syndrome,compared with 47,XXY Klinefelter patients.J Clin Endocrinol Metab,2007,92(9):3458-3465. 5 Hado HS,Helmy SW,Klemm K,et a1. XX male:a rare cause of short stature,infertility,gynaecomastia and carcinoma of the breast.Int J Clin Pract,2003,57(9):844-845. 6 Anik A,Catli G,Abaci A,et al.46,XX male disorder of sexual development:a case report.J Clin Res Pediatr Endocrinol,2013,5(4) :258-260. 7 McElreavey K,Vilain E,Abbas N,et al.A regulatory cascade hypothesis for mammalian sex determination:SRY represses a negative regulator of male development.Proc Acad Sci USA,1993,90:3368-3372. 8 Belgorosky A.Report of an XX male with hypospadias and pubertal gynecomastia,SRY gene negative in blood leukocytes but SRY gene positive in testicular cells.Horm Res,1997,47:85-88. 9 Grinspon RP ,ReyRA.Disorders of sex development with testicular differentiation in SRY-negative 46,xx individuals:clinical and genetic aspects.Sex Dev,2016,10:1-11. 10 Brunner B,Hornung U,Shan Z,et al.Genomic organization and expression of the doublesex-related gene cluster invertebrates and detection of putative regulatory regions for DMRT1. Genomics,2001,77:8-17. 11 Biason-Lauber A,Chaboissier MC.Ovarian development and disease:The known and the unexpected.Semin Cell Dev Biol ,2015,45:59-67. 12 Jordan BK,Mohammed M,Ching ST,et al.Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.Am J Hum Genet,2001,68:1102-1109.
