Two SRY-negative XX male brothers without genital ambiguity

Human Genetics

Volumn 100, Issue 5-6, 1997, Pages 606-610

  Zenteno, Juan Carlos ^a   López, Marisol ^b   Vera, Clementina ^a   Méndez, Juan Pablo ^c   Kofman Alfaro, Susana ^a  

^a HOSPITAL GENERAL DE MÉXICO   (Mexico)

^b DEPARTAMENTO DE SISTEMAS BIOLÓGICOS   (Mexico)

^c HOSPITAL DE PEDIATRÍA   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENITAL MALFORMATION; HUMAN; HUMAN CELL; MALE; MOLECULAR BIOLOGY; PHENOTYPE; PRIORITY JOURNAL; SEX DETERMINATION; SEX DIFFERENTIATION; SIBLING; XX MALE;

ADULT; CENTROMERE; DNA-BINDING PROTEINS; FEMALE; HUMANS; HYPOGONADISM; KARYOTYPING; MALE; MEXICO; MODELS, GENETIC; NUCLEAR FAMILY; NUCLEAR PROTEINS; PEDIGREE; SEX CHROMOSOME ABERRATIONS; SEX-DETERMINING REGION Y PROTEIN; TRANSCRIPTION FACTORS; X CHROMOSOME; Y CHROMOSOME;

EID: 2642680023     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050561     Document Type: Article

References (48)

1. Abbas NE, Toublanc JE, Boucekkine C, Toublanc M, Affara NA, Job JC, Fellous M (1990) A possible common origin of "Y-negative" human XX males and XX true hermaphroditism. Hum Genet 84:356-360
2. Affara NA, Ferguson-Smith MA, Tolmie J, Kwok K, Mitchell M, Jamieson D, Cooke A, Florentin A (1986) Variable transfer of Y-specific sequences in XX males. Nucleic Acids Res 14: 5375-5387
3. Bailey WA, Zwingman TA, Reznik VA, Griswold WR, Mendoza SA, Jones KL, Freidenberg GR (1992) End-stage renal disease and primary hypogonadism associated with a 46,XX karyotype. Am J Dis Child 146:1218-1223
4. Berger R, Abonyi D, Nodot A, Vialatte J, Lejeune J (1970) Hermaphrodisme vrai et "garcon XX" dans une fratrie. Rev Eur Etudes Clin Biol 15:330-333
5. Boucekkine C, Toublanc JE, Abbas N, Semrouni M, Vilain E, McElreavey K, Mugneret F, Fellous M (1992) The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability. Horm Res 37:236-240
6. Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, Semrouni M, Jaubert F, Toublanc M, McElreavy K, Vilain E, Fellous M (1994) Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin Endocrinol (Oxf) 40:733-742
7. Buckle VJ, Boyd Y, Fraser N, Goodfellow PN, Goodfellow PJ, Wolfe J, Craig IW (1987) Localisation of Y chromosome sequences in normal and "XX" males. J Med Genet 24:197-203
8. Chapelle A de la (1972) Nature and origin of males with XX sex chromosomes. Am J Hum Genet 24:71-105
9. Chapelle A de la (1981) The etiology of maleness in XX men. Hum Genet 58:105-116
10. Chapelle A de la (1987) The Y-chromosomal and autosomal testis-determining genes. Dev Suppl 101:33-38
11. Chapelle A de la, Hortling H, Niemi M, Wennstrom J (1964) XX sex chromosomes in a human male. First case. Acta Med Scand (suppl) 412:25-38
12. Chapelle A de la, Schröder J, Murros J, Tallqvist (1977) Two XX males in one familiy and additional observations bearing on the etiology of XX males. Clin Genet 11:91-106
13. Donlon TA, Muller U (1991) Deletion mapping of DNA segments from the Y chromosome long arm and their analysis in an XX male. Genomics 10:51-55
14. Fechner PY, Marcantonio SM, Jaswaney V, Stetten G, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz CD (1993) The role of the sex-determining region Y gene in the etiology of 46,XX maleness. J Clin Endocrinol Metab 76:690-695
15. Ferguson-Smith MA, Johnston AW (1960) The chromosome complement in true hermaphroditism. Lancet ii : 126-128
16. Ferguson-Smith MA, Cooke A, Affara NA, Boyd E, Tolmie JL (1990) Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. Hum Genet 84:198-202
17. Guellaen G, Casanova M, Bishop C, Geldwerth D, Andre G, Fellous M, Weissenbach J (1984) Human XX males with single copy DNA fragments. Nature 307:172-173
18. Hummel S, Herrmann B (1994) Y-chromosomal DNA from ancient bones. In: Hummel S, Herrmann B (eds) Ancient DNA. Springer, Berlin Heidelberg New York, pp 205-210
19. Jäger RJ, Ebensperger C, Fraccaro M, Scherer G (1990) A ZFY-negative 46,XX true hermaphrodite is positive for the pseudo-autosomal boundary. Hum Genet 85:666-668
20. Jiménez R, Sánchez A, Burgos M, Díaz de la Guardia R (1996) Puzzling out the genetics of mammalian sex determination. Trends Genet 12:164-166
21. Kasdan R, Nankin HR, Troen P, Wald N, Pan S, Yanaihara T (1973) Paternal transmission of maleness in XX human beings. N Engl J Med 288:539-545
22. Kuhnle U, Schwartz HP, Lohrs U, Stengel-Ruthkowsky S, Cleve H, Braun A (1993) Familial true hermaphroditism: paternal and maternal transmission of true hermaphroditism (46,XX) and XX males in the absence of Y-chromosomal sequences. Hum Genet 92:571-576
23. López M, Torres L, Méndez JP, Cervantes A, Alfaro G, Péerez-Palacios G, Erickson RP, Kofman-Alfaro S (1995 a) SRY alone can induce normal male sexual differentiation. Am J Med Genet 55:356-358
24. López M, Torres L, Méndez JP, Cervantes A, Pérez-Palacios G, Erickson RP, Alfaro G, Kofman-Alfaro S (1995b) Clinical traits and molecular findings in 46,XX males. Clin Genet 48: 29-34
25. McElreavey K, Vilain E, Abbas N, Herskowitz Y, 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
26. Méndez JP, Ulloa-Aguirre A, Kofman-Alfaro S, Canto P, Reyes E, Díoz-Cueto L, Pérez-Palacios G (1996) Phenotypical expression in XX males correlates with testicular response to exogenous choriogonadotropin in early infancy: does a variable degree of testicular failure determine the degree of genital ambiguity? Arch Androl 37:19-26
27. Minowada S, Kobayashi K, Isurugi K, Fukutani K, Ikeuchi H, Hasegawa T, Yamada K (1979) Two XX male brothers. Clin Genet 15:399-405
28. Muller U, Donlon T, Schmid M, Fitch N, Richer CL, Lalande M, Latt SA (1986) Deletion mapping of the testis-determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females. Nucleic Acids Res 14:6489-6505
29. Nicolis GL, Hsu LY, Sabetghadam R, Kardon NB, Chernay PR, Mathur DP, Rose HG, Hirschhorn K, Gabrilove JL (1972) Klinefelter's syndrome in identical twins with the 46,XX chromosome constitution. Am J Med 52:482-491
30. Numabe H, Nagafuchi S, Nakahori Y, Tamura Y, Liuchi H, Namiki M, Kohda N, Fukushima Y, Kudano M, Arai T, Matsuzaki Y, Fukutani K, Isurugi K, Kuroki Y, Ikeuchi T, Yoshida M, Minowada S, Nakagone Y (1992) DNA analyses of XX and XX-hypospadiac males. Hum Genet 90:211-214
31. Ogata T, Matsuo N (1992) Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s). J Med Genet 29:539-541
32. Ostrer H, Wright G, Clayton M, Skordis N, MacGillivray MH (1989) Familial XX chromosomal maleness does not arise from a Y chromosomal translocation. J Pediatr 114:977-982
33. Page DC, Chapelle A de la, Weissenbach J (1985) Chromosome Y-specific DNA in related human XX males. Nature 315:224-226
34. Page DC, Mosher R, Simpson EM, Fisher EMC, Mardon G, Pollack J, McGillivray B, Chapelle A de la, Brown LG (1987) The sex determining region of the human Y chromosome encodes a finger protein. Cell 51:1091-1104
35. Palmer MS, Sinclair AH, Berta P, Ellis NA, Goodfellow PN, Abbas EN, Fellous M (1989) Genetic evidence that ZFY is not the testis-deterrnining factor. Nature 34:937-939
36. Pereira ET, Almeida JC de, Gunha A, Patton M, Taylor R, Jeffery S (1991) Use of probes for ZFY, SRY and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female. J Med Genet 28:591-595
37. Ramos ES, Moreira-Filho CA, Vicente YAMVA, Llorach-Velludo MAS, Tucci S Jr, Duarte MHO, Araujo AG, Martelli L (1996) SRY-negative true hermaphrodites and an XX male in two generations of the same family. Hum Genet 97:596-598
38. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
39. Schempp W, Müller G, Scherer G, Bohlander SK, Rommerskirch W, Fraccaro M, Wolf V (1989) Localisation of Y chromosome sequences and X chromosomal replication studies in XX males. Hum Genet 81:144-148
40. Schneider-Gädicke A, Beer-Romero P, Brown LG, Nussbaum R, Page DC (1989) ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation. Cell 57:1247-1258
41. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BR, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-243
42. Skordis NA, Stetka DO, MacGillivray MH, Greenfield SP (1987) Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree. J Pediatr 110:244-248
43. Verga V, Erickson RP (1989) An extended long-range restriction map of the human sex-determining region on Yp, including ZFY, finds marked homology on Xp and no detectable Y sequences in an XX male. Am J Hum Genet 44:756-765
44. Vergnaud G, Page DC, Simmler MC, Brown L, Rouyer F, Noel B, Botstein D, Chapelle A de la, Weissenbach J (1986) A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet 38:109-124
45. Witt N, Erickson RP (1989) A rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction. Hum Genet 82:271-274
46. Witt N, Erickson RP (1991) A rapid method for detection of Ychromosomal DNA from dried blood specimens by the polymerase chain reaction (erratum). Hum Genet 86:540
47. Yunis JJ (1976) High resolution of human chromosomes. Science 191:1268-1270
48. Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ERB, Meitinger T, Monaco AP, Sassone-Corsi P, Camerino G (1994) An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372: 635-641