46,XX Male

Publication Details

  • Abbas N, McElreavey K, Leconiat M, Vilain E, Jaubert F, Berger R, Nihoul-Fekete C, Rappaport R, Fellous M: Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. C. R. Acad. Sci. (LS) 316:375-383, 1993. [PubMed: 8402263]
    Abbas N E, Toublanc J E, Boucekkine C, Toublanc M, Affara N A, Job J C, Fellous M: "A possible origin of ""Y-negative"" human XX males and XX true hermaphrodites." Hum. Genet. 84:356-360, 1990. [PubMed: 2307458]
    Index Terms: SRY

  • Affara N A, Ferguson-Smith M A, Tohnie J, Kwok K, Mitchell M, Jamieson D, Cooke A, Florenrin L: Variable transfer of Y-specific sequences in XX males. Nucleic Acids Res. 14:5375-5381, 1986. [PMC free article: PMC311546] [PubMed: 3737404]

  • Alvesalo L, de la Chapelle A: Permanent tooth size in 46,XX males. Ann. Hum. Genet. 43:97-102, 1979. [PubMed: 575031]
    Andersson M, Page D C, de la Chapelle A: Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. Science 233:786-788, 1986. [PubMed: 3738510]
    de la Chapelle A: Nature and origin of males with XX sex chromosomes. AJHG 24:71-105, 1972. [PMC free article: PMC1762158] [PubMed: 4622299]
    de la Chapelle A, Tippett P A, Wetterstrand G, Page D C: Genetic evidence of X-Y interchange in a human XX male. Nature 307:170-171, 1984. [PubMed: 6537827]
    Page D C, de la Chapelle A: The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms. AJHG 36:565-575, 1984. [PMC free article: PMC1684446] [PubMed: 6328977]
    Page D C, de la Chapelle A, Weissenbach J: Chromosome Y-specific DNA in related human XX males. Nature 315:224-226, 1985. [PubMed: 2987697]
    Three males LGL105, LGL115, and WHT950 were studied by a probe (pDP105). It was found that the Y DNA is located on the tip of the short arm, suggesting that XX maleness is frequently the result of transfer of Y DNA, including TDF, to a paternally derived X chromosome.

  • Anguiano A, Yang X, Felix J K, Hoo J J.: Twin brothers with MIDAS syndrome and XX karyotype. AJMG DOI=10.1002/ajmg.a.10172; 119A:47-49, 2002 and 2003. [PubMed: 12707958]
    Both twins=46,X,t(X;Y)(p22.3;p11.3).
    The abnormal X chromosome was documented as invariably late replicating.
    MIM#: 309801
    Index Terms: MIDAS syndrome

  • Bauch K, Witkowski R, Ullrich E, Dempe A, Lindner J: The XX male - report on a child and an adult. Endokrinologie 76:63-67, 1980. [PubMed: 7192212]
    Case 1: 000057 and Case 2: 000072 with signs of Prader-Willi syndrome.
    45,XY,t(15q15q).
    Index Terms: Prader-Willi ... Critical Region (PWCR),XX male

  • Borgaonkar D S: Pairing of X and Y chromosomes. Lancet 2:667, 1974. [PubMed: 4137796]

  • Caporal R, Petit P, Wauthier J L, Segrestaa J M: A case of an XX man with presence of H-Y antigen in the mother. Ann. Med. Intern. Paris 136:646-649, 1985. [PubMed: 2870673]

  • Carter N E, Ferguson-Smith M E, Affara N A, Briggs H, Ferguson-Smith M A: Study of X chromosome abnormality in XX males using bivariate flow karyotype analysis and flow sorted dot blots. Cytometry 11:202-207, 1990. [PubMed: 2106420]
    Ferguson-Smith M A, Cooke A, Affara N A, Boyd E, Tolmie J L: Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. Hum. Genet. 84:198-202, 1990. [PubMed: 2298458]

  • Cullen M, Greally M, Greally J: The XX male syndrome - A case report. Clin. Genet. 10:73-76, 1976. [PubMed: 954228]

  • Davis J L, Williams J, III: 46,XX male. A case report. J. Reprod. Med. 32:935-936, 1987. [PubMed: 3430503]
    The case was diagnosed prenatally.

  • Dosik H, Wachtel S S, Khan F, Spergel G, Koo G C: Y-chromosomal genes in a phenotypic male with a 46,XX karyotype. AJDC 236:2505-2508, 1976. [PubMed: 1036513]
    Studies on a 46-year-old male are described.
    46,XX,17ps+.&One cell was 47,XXY. H(Y) antigen assay was positive.

  • Duck S C, Sekhon G S, Wilbois R, Pagliara A S, Weldon V V: Pseudohermaphroditism with testes and a 46,XX karyotype. J. Ped. 87:58-62, 1975. [PubMed: 168335]
    Patient V.W. (No. 73-8036) in this report.
    This patient had well-developed Mullerian structure.
    Index Terms: Pseudohermaphroditism,XX male

  • Erickson R P, Skinner S, Jacquet H, Campion D, Buckley P G, Mantripragada K K, Dumanski J P.: Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male. AJMG DOI=10.1002/ajmg.a.20489, 2003. [PubMed: 14556248]
    Phelan M C, Rogers R C, Crawford E C, Brown L G, Page D C.: Velocardiofacial syndrome in an unexplained XX male. AJMG DOI=10.1002/ajmg.10833; 116A:77-79, 2003. [PubMed: 12476456]
    Patient MM was 6 years old:
    46,XX,del(22)(q11.2)de novo.
    The sex-reversal of this XX male and the presence of a typical DiGeorge 22q deletion are likely to be two unrelated events.
    No evidence of Y material was found. No evidence of chromosome 22 trisomic material.
    Chromosomal Aneuploidy: 22q-
    Index Terms: VCF syndrome

  • Evans H J, Buckton K E, Spowart G, Carothers A D: Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange. Hum. Genet. 49:11-31, 1979. [PubMed: 572812]
    Eight of twelve 46,XX males showed Xp+ chromosome. It is assumed that this Xp+ region is due to an Xp-Yp interchange in the father''s meiosis.

  • Farah S B, Garmes H M, Cavalcanti D P, Mello M P, Porrelli R N, Ramos C F, Sartorato E L: Use of Y-chromosome-specific DNA probes to evaluate an XX male. Brazilian J. Med. Biol. Res. 24:149-156, 1991. [PubMed: 1823227]

  • Fraccaro M, Tiepolo L, Zuffardi O, Chiumello G, Di Natale B, Gargantini L, Wolf U: Familial XX true hermaphroditism and the H-Y antigen. Hum. Genet. 48:45-52, 1979. [PubMed: 110671]
    Two 46,XX siblings, male and female with ambiguous external genitalia and ovotestis, were H-Y positive. The mother was H-Y negative. It is assumed that the mutation was transmitted by the father, resulting in an autosomal dominant mode of inheritance.
    Index Terms: Genitalia ... ambiguous,Hermaphrodism ... true,Ovotestis,XX male

  • Giammarini A, Rocchi M, Zennaro W, Filippi G: XX male with breast cancer. Clin. Genet. 18:103-108, 1980. [PubMed: 7192192]
    Claimed to be the first report of an XX male with breast cancer.
    Index Terms: Breast ... cancer,Cancer ... breast,XX male

  • Iinuma K, Ohzeki T, Ohtaguro K, Higashihara E, Tanae A, Nakagome Y: Y-chromatin positive cells in the smear preparations of the gonad from an XX male. Humangenetik 30:193-196, 1975. [PubMed: 1193606]
    One out of 49 metaphases from cultured skin fibroblasts was 46,XY.

  • Jalal S M, Law M E, Dewald G W, Sekhon G S, Van Dyke D L: Detection of 46,XX male by Y-specific whole chromosome paint probe. AJMG 52:239-241, 1994. [PubMed: 7802019]
    3 patients were studied.
    46,X,t(X;Y)(p2;p1).
    WCP-Y spectrum Green gave a better result.

  • Kaiser P, Gerhard-Ratschow K, Zabel B, Gey W: A new case of XX-Male(XX-XXY mosaic). Hum. Genet. 39:131-137, 1977. [PubMed: 562834]

  • Kasdan R, Nankin H R, Troen P, Wald N, Pan S F, Yanaihara T: Paternal transmission of maleness in XX human beings. NEJM 288:539-545, 1973. [PubMed: 4685451]

  • Klever M, Grond-Ginsbach C, Scherthan H, Schroeder-Kurth T M: Chromosomal in situ suppression hybridization after giemsa banding. Hum. Genet. 86:484-486, 1991. [PubMed: 2016088]
    t(X;Y).
    X-Y translocation is documented by a fascinating technique of successive in situ hybridization which is essentially sequential banding.

  • Kusz K, Kotecki M, Wojda A, Szarras-Czapnik M, Latos-Bielenska A, Warenik-Szymankiewicz A, Ruszczynska-Wolska A, Jaruzelska J.: Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome. J. Med. Genet. 36:452-456, 1999. [PMC free article: PMC1734388] [PubMed: 10874632]
    Sharp A, Kusz K, Jaruzelska J, Szarras-Czapnik M, Wolski J, Jacobs P.: Familial X/Y translocations associated with variable sexual phenotype. J. Med. Genet. 41:440-444, 2004. [PMC free article: PMC1735805] [PubMed: 15173229]
    Patient AK=46,X,der t(Xp;Yp)pat.,Patient PG=46,X,der t(Xp;Yp)mat.
    Patient AK was ascertained at age 17 with ambiguous internal and external genitalia. PG was ascertained at 6 months of age with ambiguous inetrnal and external genitalia. It is possible that these two families may have a shared ancestry. Some male and female carriers of the translocated chromosomes are fertile.
    The X breakpoint is distal to DXYS228X. The Y breakpoint is localised to the interval 6-7 kb proximal to SRY.

  • Laurance B M, Darby C W, Vanderschueren-Lodeweyckx M: Two XX males diagnosed in childhood. Arch. Dis. Childhood 51:144-148, 1976. [PMC free article: PMC1545898] [PubMed: 4036]

  • Lopez M, Torres L, Mendez J P, Cervantes A, Perez-Palacios G, Erickson R P, Alfaro G, Kofman-Alfaro S.: Clinical traits and molecular findings in 46,XX males. Clin. Genet. 48:29-34, 1995. [PubMed: 7586641]
    It is concluded that this a heterogeneous condition.

  • Magenis R E, Casanova M, Fellous M, Olson S B, Sheehy R R: Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. Hum. Genet. 75:228-233, 1987. [PubMed: 3557449]
    46,XX,t(Xp;Yp)&"t(5p;Yq)"

  • Margarit E, Soler A, Carri+¦ A, Oliva R, Costa D, Vendrell T, Rosell J, Ballesta F. : Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis. J. Med. Genet. 35:727-730, 1998. [PMC free article: PMC1051424] [PubMed: 9733030]
    Cases 2 to 5:46,X,t(X;Y)(Xqter->Xp22.3::Yp11.2->Ypter).,Case 1:46,X,t(X;Y)(Xqter->Xp22.3::Yp11.3->Ypter).,Case 6:46,X,t(X;Y)(Xqter->Xp22.3::Yp11->Ypter).
    Case 6 was ascertained prenatally where the male phenotype was detected by ultrasound.
    Several Y chromosome probes and markers were used.

  • McDonough P G, Byrd J R, Tho P T, Otken L: Gonadoblastoma in a true hermaphrodite with a 46,XX karyotype. Obst. Gynecol. 47:355-358, 1976. [PubMed: 1250564]
    Case L Mc in this report.
    The authors claim that this is a first report of a gonadoblastoma occurring in a 46,XX true hermaphrodite.
    Index Terms: Cancer ... gonadal tumors,Gonadoblastoma,Hermaphrodism ... true,XX male

  • Minowada S, Kobayashi K, Isurugi K, Fukutani K, Ikeuchi H, Hasegawa T, Yamada K: Two XX male brothers. Clin. Genet. 15:399-405, 1979. [PubMed: 445863]
    Two brothers with XX male syndrome with penoscrotal hypospadias are reported. Chromosomal analysis of cells from the peripheral blood, skin and testes revealed a normal female karyotype in both subjects. Studies of various genetic markers, including the Xg blood type and erythrocyte enzymes, were performed in the probands and their parents. Possible explanations for the paradoxical occurrence of testes in XX males and for the familial occurrence are discussed.
    Index Terms: Hypospadias,XX male

  • Miro R, Caballin M R, Marina S, Egozcue J: Mosaicism in XX males. Hum. Genet. 45:103-106, 1978. [PubMed: 730176]
    Three males with a 46,XX karyotype are described. Two of them showed evidence of a Y-containing line.

  • Muller U, Latt S A, Donlon T A: Y-specific DNA sequences in male patients with 46,XX and 47,XXX karyotypes. AJMG 28:393-401, 1987. [PubMed: 2827475]

  • Nakagome Y, Seki S, Fukutani K, Nagafuchi S, Nakahori Y, Tamura T: PCR detection of distal Yp sequences in an XX true hermaphrodite. AJMG 41:112-114, 1991. [PubMed: 1951452]
    Patient 904 was referred at age 15 years because of ambiguous genitalia and gynecomastia.
    Two loci of Yp were detected: the pseudoautosomal region (PABY) and the sex determining region of the Y chromosome (SRY).

  • Nielsen K B, Schwartz M, Sardemann H: Investigation of three XX males by cytogenetic and DNA analysis. Suggestion of Y chromosome inversion polymorphism. Hum. Genet. 78:179-182, 1988. [PubMed: 3338801]

  • Numabe H, Nagafuchi S, Nakahori Y, Tamura T, Kiuchi H, Namiki M, Kohda N, Fukushima Y, Fuse H, Kusano M, Arai T, Matsuzaki Y, Fukutani K, Isurugi K, Kuroki Y, Ikeuchi T, Yoshida M, Minowada S, Nakagome Y: DNA analysis of XX and XX-hypospadiac males. Hum. Genet. 90:211-214, 1992. [PubMed: 1487232]
    Fourteen patients were studied.
    Eight possessed various segments of Yp, and none had hypospadia. 5/6 remaining cases had hypospadia and no Y sequence. These studies suggest the presence of a causative difference between hypospadiac and non-hypospadiac groups.
    Index Terms: Hypospadias

  • Ostrer H, Wright G, Clayton M, Skordis N, MacGillivray M H: Familial XX chromosomal maleness does not arise from a Y chromosomal translocation. J. Ped. 114:977-982, 1989. [PubMed: 2723912]
    Skordis N A, Stetka D G, MacGillivray M H, Greenfield S P: Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree. J. Ped. 110:244-248, 1987. [PubMed: 3806296]
    It is concluded that inheritance of the abnormality is via paternal transmission of autosomal testis determining factor. Two brothers III-3 and III-4 in the pedigree were 46,XX males; and paternal relatives II-1 and III-1 were true hermaphrodites. It is concluded that the disorder of sexual differentiation observed in this family can be best explained by a dominant autosomal gene with variable expressivity.
    MIM#: 154230
    Index Terms: Hermaphrodism ... true

  • Pais V M, Vasudevan P: Infertility in an XX male. J. Urol. 118:690-691, 1977. [PubMed: 562425]
    Index Terms: Sterility ... male,XX male

  • Pereira E T, Cabral de Almeida J C, Gunha A C Y R G, Patton M, Taylor R, Jeffery S: 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, 1991. [PMC free article: PMC1015788] [PubMed: 1956056]

  • Perez-Palacios G, Medina M, Ullao-Aguirre A, Chavez B A, Villareal G, Dutrem M T, Cahill L T, Wachtel S S: Gonadotropin dynamics in XX males. J. Clin. End. Met. 53:254-257, 1981. [PubMed: 6788790]

  • Pierella P, Craig I W, Bobrow M, de la Chapelle A: Steroid sulphatase levels in XX males including observations on two affected cousins. Hum. Genet. 59:87-88, 1981. [PubMed: 10819031]

  • Raine J, Robertson M E, Malcolm S, Hoey H, Grant D B: Absence of Y specific DNA sequences in two siblings with 46XX hermaphroditism. Arch. Dis. Childhood 64:1185-1187, 1989. [PMC free article: PMC1792515] [PubMed: 2782935]

  • Rehder H, Bruhl P, Seth P K: XX-Male-syndrome. Pathogenesis and aspects of diagnostic pitfalls. Urologe A14:182-186, 1975. [PubMed: 1154567]

  • Rios M E, Kaufman R L, Sekhon G S, Bucy J G, Bauman J E, Jacobs L S: An XX male: cytogenetic and endocrine studies. Clin. Genet. 7:155-162, 1975. [PubMed: 1132164]

  • Ropers H H, Migl B, Zimmer J, Muller C R: Steroid sulfatase activity in cultured fibroblasts of XX males. Cytogenet. Cell Genet. 30:168-173, 1981. [PubMed: 6945932]

  • Sasagawa I, Terada T, Katayama T, Sakamoto H: Ultrastructure of the testis in an XX-male with normal plasma testosterone. Andrologia 18:361-367, 1986. [PubMed: 3752539]

  • Schempp W, Muller G, Scherer G, Bohlander S K, Rommerskirch W, Fraccaro M, Wolf U: Localization of Y chromosome sequences and X chromosomal replication studies in XX males. Hum. Genet. 81:144-148, 1989. [PubMed: 2912884]

  • Shah P N, Naik S N, Mahajan D K, Dave M J, Paymaster J C: A new variant of human intersex with discussion on the developmental aspects. BMJ 3:474-477, 1961. [PMC free article: PMC1969401] [PubMed: 13750589]
    46,XX chromosome constitution in skin fibroblasts in a phenotypic male was first reported here.

  • Sorensen K, Nielsen J, Froland A, Johnsen S G: Psychiatric examination of all eight adult males with the karyotype 46,XX diagnosed in Denmark till 1976. Acta Psychiat. Scand. 59:153-163, 1979. [PubMed: 420035]

  • Sratton R F, Walter C A, Paulgar B R, Price M E, Moore C M.: Second 46,XX male with MLS syndrome. AJMG 76:37-41, 1998. [PubMed: 9508062]
    46,XX.ish der(X)t(X;Y)(wcpY+,DYZ3-,DYZ1-,DXZ1+).
    46,XX.ish der(X)t(X;Y)(wcpY+,DYZ3-,DYZ1-,DXZ1+).
    MIM#: 309801
    Index Terms: Microphthalmia with linear skin defects

  • Turner B, Fechner P Y, Fuqua J S, Marcantonio S M, Perlman E J, Vordermark J S, Berkovitz G D.: Combined Leydig cell and Sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene. AJMG 57:440-443, 1995. [PubMed: 7677147]
    Index Terms: Leydig cell dysfunction, Sertoli cell dysfunction

  • Vague J, Guidon J, Mattei J F, Luciani J M, Angeletti S: Les hommes a caryotype 46,XX. Ann. Endocrinol. 38:311-321, 1977. [PubMed: 900881]

  • Van der Auwera B, Van Roy N, De Paepe A, Hawkins J R, Liebaers I, Castedo S, Dumon J, Speleman F: Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY. Hum. Genet. 89:23-28, 1992. [PubMed: 1577463]
    Index Terms: SRY

  • Van Dyke D C, Hanson J W, Moore J W, Patil S R, Hawtrey C E, Hansen J R: Clinical management issues in males with sex chromosomal mosaicism and discordant phenotype/sex chromosomal patterns. Clin. Ped. 30:15-21, 1991. [PubMed: 1995198]
    Eleven individuals were studied.
    46,XX&46,XY/46,XX.&46,XX/47,XXY.&46,XY/46,XX/47,XXY.
    Clinical phenotype included hypospadias, small testes, micropenis, and hypogonadism.
    Index Terms: Micropenis,Hypospadias,Small testes

  • Varrela J: Body size and shape in 46,XX males: an anthropometric investigation. Ann. Hum. Genet. 48:261-267, 1984. [PubMed: 6540543]

  • Vernole P, Terrinoni A, Didona B, De Laurenzi V, Rossi P, Melino G, Grimaldi P.: An SRY-negative XX male with Huriez syndrome. Clin. Genet. 57:61-66, 2000. [PubMed: 10733237]
    MIM#: 181600
    Index Terms: Huriez syndrome

  • Vilain E, Le Fiblec B, Morichon-Delvallez N, Brauner R, Dommergues M, Dumez Y, Jaubert F, Boucekkine C, McElreavey K, Vekemans M, Fellous M: SRY-negative XX fetus with complete male phenotype. Lancet 343:240-241, 1994. [PubMed: 7904700]
    It is concluded that complete male development can occur in the absence of the SRY-gene. It is hypothesized that a mutation in an autosomal gene or an X-linked gene is possibly the cause for such an phenotype.

  • Wachtel S S, Koo G C, Breg W R, Thaler H T, Dillard G M, Rosenthal I M, Dosik H, Gerald P S, Saenger P, New M I, Lieber E, Miller O J: Serologic detection of a Y-linked gene in XX males and XX true hermaphrodites. NEJM 295:750-754, 1976. [PubMed: 986548]
    Winters S J, Wachtel S S, White B J, Koo G C, Javadpour N, Loriaux L, Sherins R J: H-Y antigen mosaicism in the gonad of a 46,XX true hermaphrodite. NEJM 300:745-749, 1979. [PubMed: 570639]
    A 20 year-old male had ovotestis; gonadal cells from ovarian portion were H-Y antigen negative and gonadal cells from testicular portion were H-Y antigen positive. These data indicate that the ovotestis arises from an H-Y+/H-Y- mosaic primordium.
    Case 1 in this report.
    46,XXp+.&Seven cases were tested, four of XX males and three true hermaphrodites. All were found to express H(Y) antigen.
    Index Terms: Hermaphrodism ... true

  • Wieacker P, Voiculescu J, Muller C R, Ropers H H: An XX male with a single STS gene dose. Cytogenet. Cell Genet. 35:72-74, 1983. [PubMed: 6572129]

  • Yaron Y, Feldman B, Kramer R L, Kasperski S B, Vo T, Feldman G L, Johnson M P, Evans M I, Ebrahim S A D.: Prenatal diagnosis of 46,XY/46,XX mosaicism: a case report. AJMG 84:12-14, 1999. [PubMed: 10213039]
    Index Terms: 46,XY/46,XX Mosaicism

  • Zenteno J C, Lopez M, Vera C, Mendez J P, Kofman-Alfaro S.: Two SRY-negative XX male brothers without genital ambiguity. Hum. Genet. 100:606-610, 1997. [PubMed: 9341880]
    Index Terms: SRY-negative