Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive

BMC Urology

Volumn 14, Issue 1, 2014, Pages

  Wu, Qiu Yue ^a   Li, Na ^a   Li, Wei Wei ^a   Li, Tian Fu ^a   Zhang, Cui ^a   Cui, Ying Xia ^a   Xia, Xin Yi ^a   Zhai, Jin Sheng ^a  

^a NANJING UNIVERSITY   (China)

Author keywords

46, XX testicular disorder of sex development (DSD); Sexual hormone; SRY positive

Indexed keywords

ESTRADIOL; FOLLITROPIN; LUTEINIZING HORMONE; PROLACTIN; TESTOSTERONE; GONADOTROPIN; SEX HORMONE;

ARTICLE; AZFA GENE; AZFB GENE; AZFC GENE; AZOOSPERMIA; BODY HEIGHT; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; DISORDER OF SEX DEVELOPMENT; ESTRADIOL BLOOD LEVEL; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLITROPIN BLOOD LEVEL; GENE DELETION; GENE EXPRESSION; HUMAN; KARYOTYPE 46,XX; KARYOTYPING; LUTEINIZING HORMONE BLOOD LEVEL; LYMPHOCYTE; MALE; MALE INFERTILITY; PHYSICAL EXAMINATION; PROLACTIN BLOOD LEVEL; SEMEN ANALYSIS; SEX TRANSFORMATION; SEXUAL FUNCTION; SRY GENE; TESTOSTERONE BLOOD LEVEL; X CHROMOSOME; Y CHROMOSOME; BLOOD; GENE TRANSLOCATION; GENETICS; PHENOTYPE; POLYMERASE CHAIN REACTION;

46, XX TESTICULAR DISORDERS OF SEX DEVELOPMENT; CHROMOSOMES, HUMAN, Y; GENE DELETION; GENES, SRY; GONADAL STEROID HORMONES; GONADOTROPINS, PITUITARY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFERTILITY, MALE; KARYOTYPING; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; TRANSLOCATION, GENETIC;

EID: 84906932749     PISSN: None     EISSN: 14712490     Source Type: Journal    
DOI: 10.1186/1471-2490-14-70     Document Type: Article

References (28)

1. XX sex chromosomes in a human male. Chapelle A, Hortling H, Niemi M, Wennström J, Acta Medica Scandinavica 1964 175 Suppl 412 25 28
2. Cytogenic and molecular analyses of 46, XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin. Chiang HS, Wu YN, Wu CC, Hwang JL, J Formos Med Assoc 2013 112 2 72 78
3. A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication. Lee GM, Ko JM, Shin CH, Yang SW, Ann Pediatr Endocrinol Metab 2014 19 2 108 112
4. 46, XX Male-Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies. Alves C, Braid Z, Coeli FB, Mello MP, Arq Bras Endocrinol Metabol 2010 54 8 685 689
5. Vilain EJ, 46, XX testicular disorder of sex development Washington University Press: Seattle (WA) 1993
6. 46, XX Male Disorder of Sexual Development: A Case Report. Anik A, Çatli G, Abaci A, Böber E, J clin res pediatr endocrinol 2013 5 4 258 260
7. The Sertoli Cell Only Syndrome and Glaucoma in a Sex-Determining Region Y (SRY) Positive XX Infertile Male. Jain M, Chaudhary I, Halder A, J Clin Diagn Res 2013 7 7 1457 1459
8. Clinical, hormonal and cytogenetic evaluation of 46, XX males and review of the literature. Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, McElreavey K, New MI, J Clin Endocrinol Metab 2005 18 8 739 748
9. Clinical, endocrinological, and epigenetic features of the 46, XX male syndrome, compared with 47, XXY Klinefelter patients. Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E, Journal of Clinical Endocrinology & Metabolism 2007 92 9 3458 3465
10. 46, XX sex reversal. Zenteno-Ruiz JC, Kofman-Alfaro S, Méndez JP, Arch Med Res 2001 32 6 559 566
11. The SOX gene family: function and regulation in testis determination and male fertility maintenance. Jiang T, Hou CC, She ZY, Yang WX, Mol Biol Rep 2013 40 3 2187 2194
12. SRY protein function in sex determination: thinking outside the box. Zhao L, Koopman P, Chromosom Res 2012 20 1 153 162
13. SRY: A transcriptional activator of mammalian testis determination. Sekido R, Int J Biochem Cell Biol 2010 42 3 417 420
14. 46, XX man with SRY gene translocation: cytogenetic characteristics, clinical features and management. Rizvi AA, Am J Med Sci 2008 335 4 307 309
15. Hidden X chromosomal mosaicism in a 46, XX male. Chernykh V, Kurilo L, Shilova N, Zolotukhina T, Ryzhkova O, Bliznetz E, Polyakov A, Sex Dev 2009 3 4 183 187
16. Identification of new susceptibility regions for X; Y translocations in patients with testicular disorder of sex development. Beaulieu Bergeron M, Lemyre E, Lemieux N, Sex Dev 2010 5 1 1 6
17. An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Dauwerse JG, Hansson KB, Brouwers AA, Peters DJ, Breuning MH, Fertil Steril 2006 86 2 463 e461-463. e465
18. Genetic characterization of two 46, XX males without gonadal ambiguities. Minor A, Mohammed F, Farouk A, Hatakeyama C, Johnson K, Chow V, Ma S, J Assist Reprod Genet 2008 25 11-12 547 552
19. Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome. Kusz K, Kotecki M, Wojda A, Szarras-Czapnik M, Latos-Bielenska A, Warenik-Szymankiewicz A, Ruszczynska-Wolska A, Jaruzelska J, J Med Genet 1999 36 6 452 456
20. Xp; Yp translocation inherited from the father in anSRY, RBM, andTSPY positive true hermaphrodite with oligozoospermia. Jakubowski L, Jeziorowska A, Constantinou M, Helszer Z, Baumstark A, Vogel W, Mikiewicz-Sygula D, Kaulzewski B, J Med Genet 2000 37 10 28
21. Two males with SRY-positive 46, XX testicular disorder of sex development. Gunes S, Asci R, Okten G, Atac F, Onat OE, Ogur G, Aydin O, Ozcelik T, Bagci H, Systems Bio Reprod Med 2013 59 1 42 47
22. Variability of sexual phenotype in 46, XX (SRY+) patients: the influence of spreading X inactivation versus position effects. Sharp A, Kusz K, Jaruzelska J, Tapper W, Szarras-Czapnik M, Wolski J, Jacobs P, J Med Genet 2005 42 5 420 427
23. Copy number variation in patients with disorders of sex development due to 46, XY gonadal dysgenesis. White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A, PLoS One 2011 6 3 17793
24. Mutation analysis of the Xchromosome linked, testisspecific TAF7L gene in spermatogenic failure. Akinloye O, Gromoll J, Callies C, Nieschlag E, Simoni M, Andrologia 2007 39 5 190 195
25. 46, XX SRY-positive male syndrome presenting with primary hypogonadism in the setting of scleroderma. Velasco G, Savarese V, Sandorfi N, Jimenez SA, Jabbour S, Endocr Pract 2011 17 1 95 98
26. The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions. Kirsch S, Weiss B, Schön K, Rappold GA, Journal of pediatric endocrinology & metabolism: JPEM 2002 15 1295 1300
27. Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. Chen J, Wildhardt G, Zhong Z, Röth R, Weiss B, Steinberger D, Decker J, Blum WF, Rappold G, J Med Genet 2009 46 12 834 839
28. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. Binder G, Horm Rese Paediatr 2011 75 2 81 89