SRY-negative 46,XX male with normal genitals, complete masculinization and infertility

Molecular Human Reproduction

Volumn 12, Issue 5, 2006, Pages 341-346

  Rajender, Singh ^a   Rajani, Vutukuri ^a   Gupta, Nalini J ^b   Chakravarty, Baidyanath ^b   Singh, Lalji ^a   Thangaraj, Kumarasamy ^a  

^a CENTRE FOR CELLULAR AND MOLECULAR BIOLOGY   (India)

^b Institute of Reproductive Medicine   (India)

Author keywords

46,XX male; Infertility; Real time PCR; Sex determination; Sex reversal; SRY gene

Indexed keywords

AMELOGENIN; NUCLEAR RECEPTOR DAX 1; TRANSCRIPTION FACTOR SOX9;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME 22Q; CHROMOSOME DELETION X; CHROMOSOME DUPLICATION; GENE MUTATION; GENOTYPE; HUMAN; KARYOTYPE 46,XX; MALE; MALE INFERTILITY; MICROSATELLITE MARKER; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEX DETERMINATION; SHORT TANDEM REPEAT; SRY GENE; TESTIS SIZE; VIRILIZATION; Y CHROMOSOME;

ADULT; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; GENITALIA, MALE; GENOTYPE; GONADAL DYSGENESIS, 46,XX; HUMANS; INFERTILITY, MALE; KARYOTYPING; MALE; PHENOTYPE; SEX CHROMOSOME ABERRATIONS; SEX-DETERMINING REGION Y PROTEIN;

EID: 33744773829     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gal030     Document Type: Article

References (33)

1. Abusheikha N, Lass A and Brinsden P (2001) XX males without SRY gene and with infertility. Hum Reprod 16,717-718.
2. Aleck KA, Argueso L, Stone J, Hackel JG and Erickson RP (1999) True hermaphroditism with partial duplication of chromosome 22 and without SRY. Am J Med Genet 85,2-4.
3. Bennett CP, Docherty Z, Robb SA, Ramani P, Hawkins JR and Grant D (1993) Deletion 9p and sex reversal. J Med Genet 30,518-520.
4. Brennan J and Capel B (2004) One tissue, two fates: Molecular genetic events that underlie testis versus ovary development. Nat Rev Genet 5,509-521.
5. Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH et al. (1990) Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 60,509-520.
6. Dardis A, Saraco N, Mendilaharzu H, Rivarola M and Belgorosky A (1997) 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 47,85-87.
7. de la Chapelle A (1981) The etiology of maleness in XX men. Hum Genet 58,105-116.
8. de la Chapelle A (1987) The Y-chromosomal and autosomal testis determining genes. Dev Suppl 101,33-38.
9. Domenice S, Nishi MY, Billerbeck AE, Carvalho FM, Frade EM, Latronico AC, Arnhold IJ and Mendonca BB (2001) Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: Absence of SRY sequence in gonadal tissue. Med Sci Monit 7,238-241.
10. Eicher EM and Washburn LL (1986) Genetic control of primary sex determination in mice. Annu Rev Genet 20,327-360.
11. Ferguson-Smith MA and Johnston AW (1960) The chromosome complement in true hermaphroditism. Lancet ii,126-128.
12. Foster JW, Dominguez-Steglich MA, Guioli S, Kwok G, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN et al. (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372,525-530.
13. Huang B, Wang S, Ning Y, Lamb AN and Bartley J (1999) Autosomal XX sex reversal caused by duplication of SOX9. Am J Med Genet 87,349-353.
14. Inoue H, Nomura M, Yanase T, Ichino I, Goto K, Ikuyama S, Takayanagi R and Nawata H (1998) A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads. Inter Med 37,467-471.
15. Jimenez AL, Kofman-Alfaro S, Berumen J, Hernandez E, Canto P, Mendez JP and Zenteno JC (2000) Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA. Am J Med Genet 93,417-420.
16. Jiménez R, Sánchez A, Burgos M and Díaz de la and Guardia R (1996) Puzzling out the genetics of mammalian sex determination. Trends Genet 12,164-166.
17. Kasdan R, Nankin HR, Troen P, Wald N, Pan S and Yanaihara T (1973) Paternal transmission of maleness in XX human beings. N Engl J Med 288,539-545.
18. Kent J, Wheatley SC, Andrews JE, Sinclair AH and Koopman P (1996) A male-specific role for SOX9 in vertebrate sex determination. Development 122,2813-2822.
19. McElreavey K, Vilain E, Abbas N, Herskowitz Y and Fellous M (1993) A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc Nat Acad Sci USA 90,3368-3372.
20. Meeks JJ, Weiss J and Jameson JL (2003) Dax1 is required for testis determination. Nat Genet 34,32-33.
21. Morais da Silva S, Hacker A, Harley V, Goodfellow P, Swain A and Lovell-Badge R (1996) Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds. Nat Genet 14,62-68.
22. Seeherunvong T, Perera EM, Bao Y, Benke PJ, Benigno A, Donahue RP and Berkovitz GD (2004) 46,XX sex reversal with partial duplication of chromosome arm 22q. Am J Med Genet A 127,149-151.
23. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R and Goodfellow PN (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346,240-244.
24. Swain A and Lovell-Badge R (1999) Mammalian sex determination: A molecular drama. Genes Dev 13,755-767.
25. Thangaraj K, Ramana GV and Singh L (1999) Y-chromosome and mitochondrial DNA polymorphisms in Indian populations. Electrophoresis 20,1743-1747.
26. Thangaraj K, Reddy AG and Singh L (2002a) Is the amelogenin gene reliable for gender identification in forensic casework and prenatal diagnosis? Int J Legal Med 116,121-123.
27. Thangaraj K, Joshi MB, Reddy AG, Gupta NJ, Chakravarty B and Singh L (2002b) CAG repeat expansion in the androgen receptor gene is not associated with male infertility in Indian populations. J Androl 23,813-816.
28. Thangaraj K, Gupta NJ, Pavani K, Reddy AG, Subramainan S, Rani DS, Ghosh B, Chakravarty B and Singh L (2003a) Y chromosome deletions in azoospermic men in India. J Androl 24,588-597.
29. Thangaraj K, Singh L, Reddy AG, Rao VR, Sehgal SC, Underhill PA, Pierson M, Frame IG and Hagelberg E (2003b) Genetic affinities of the Andaman Islanders, a vanishing human population. Curr Biol 13,86-93.
30. Valetto A, Bertini V, Rapalini E and Simi P (2005) A 46,XX SRY-negative man with complete virilization and infertility as the main anomaly. Fertil Steril 83,216-219.
31. Vidal VP, Chaboissier MC, de Rooij DG and Schedl A (2001) Sox9 induces testis development in XX transgenic mice. Nat Genet 28,216-217.
32. Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E et al. (1994) Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79,1111-1120.
33. Zenteno JC, Lopez M, Vera C, Mendez JP and Kofman-Alfaro S (1997) Two SRY-negative XX male brothers without genital ambiguity. Hum Genet 100,606-610.