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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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46,XX or XY Female (Gonadal Dysgenesis)

  • Same entry as in 0Yq120 (Hoshi et al, 1998).

  • Aittomaki K: The genetics of XX gonadal dysgenesis. AJHG 54:844-851, 1994. [PMC free article: PMC1918251] [PubMed: 8178824]
    Existence of an autosomal recessive gene (ODG1) has been hypothesized based on large scale population and family studies after having identified 75 patients among women born between 1950 and 1976 in Finland.
  • Alsem F A: Familial 46,XX gonadal dysgenesis. Fert. Ster. 35:317-320, 1981. [PubMed: 7202756]
    Two sisters (L.Y.), 17 and 16 years old, respectively had a history of mumps.
  • Bailey W A, Zwingman T A, Reznik V M, Griswold W R, Mendoza S A, Jones K L, Freidenberg G R: End-stage renal disease and primary hypogonadism associated with a 46,XX karyotype. Am. J. Dis. Child., 1992. [PubMed: 1329488]
    The 17 year-old Mexican girl was diagnosed as having Frasier syndrome.
    Up until now Frasier syndrome has been described only in girls with 46,XY karyotype.
    MIM#: 194080
    Index Terms: Frasier syndrome,End-stage renal disease,Hypogonadism
  • Bale P M, Howard N J, Wright J E.: Male pseudohermaphroditism in XY children with female phenotype. Pediat. Pathol. 12: 29-49, 1992. [PubMed: 1561151]
    22 children with female external genitalia, testes were studied.
    13 were classified as androgen resistence, 6 as testosterone biosynthetic defect, 2 as gonadal dysgenesis, and 1 as 5 alpha-reductase deficiency.
    It is recommended that XY female children should undergo thorough endocrinologic investigation before orchidectomy.
    Index Terms: Male pseudohermaphroditism
  • Barbosa A S, Ferraz-Costa T E, Semer M, Liberman B, Moreira-Filho C A.: XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene. Hum. Genet. 95:63-66, 1995. [PubMed: 7814028]
    Patients 1, J.B.S.(200867) and 2, M.A.S.(100868).
    Both presented an eunochoid female phenotype with normal external genitalia. At laparotomy the elder sister was found to have bilateral gonadoblastoma.
    Absence of the SRY gene does not impede malignant degeneration of streak gonads.
  • Berkovitz G D, Fechner P Y, Marcantonio S M, Bland G, Stetten G, Goodfellow P N, Smith K D, Migeon C J: The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism. Hum. Genet. 88:411-416, 1992. [PubMed: 1740318]
    Berkovitz G D, Fechner P Y, Zacur H W, Rock J A, Snyder H M III, Migeon C J, Perlman E J: Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine 70:375-383, 1991. [PubMed: 1956279]
    Fuqua J S, McLaughlin J, Perlman E J, Berkovitz G D.: Analysis of the SRY gene in gonadal tissue of subjects with 46,XY gonadal dysgenesis. J. Clin. Endocr. Metabol. 82:701-702, 1997. [PubMed: 9024280]
    15 patients were discussed.
    Also see Fechner et al (1992) under 0Y0000.
  • Same entry as in 0Xp210 (Bernstein et al, 1980).

  • Boucekkine C, Nafa D, Casanova-Bettane M, Latron F, Fellous M, Benmiloud M: Evidence of a preferential inactivation of the paternally derived X chromosome in a 46,XX true hermaphrodite. Hum. Genet. 68:91-93, 1985. [PubMed: 3855406]
  • Bricarelli F D, Fraccaro M, Lindsten J, Muller U, Baggio P, Carbone L D L, Hjerpe A, Lindgren F, Mayerova A, Ringertz H, Ritzen E M, Rovelta D C, Sicchero C, Wolf U: Sex-reversed XY females with campomelic dysplasia are H-Y negative. Hum. Genet. 57:15-22, 1981. [PubMed: 7196380]
    Index Terms: Campomelic dysplasia,Gonadal dysgenesis,XY female
  • Brosnan P G, Lewandowski R C, Toguri A G, Payer A F, Meyer W J: A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures. J. Ped. 97:586-590, 1980. [PubMed: 6158563]
    Two patients, ages 1 1/2 and 8 1/2 years, with peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay are presented.
    Index Terms: Ectodermal anomalies,Face ... anomalies,Gonadal dysgenesis,Gonads streak,Mesodermal anomalies,Muscles ... anomalies,Stature ... short (low),XY female
  • Cussen L J, MacMahon R A: Germ cells and ova in dysgenetic gonads of a 46-XY female dizygotic twin. AJDC 133:373-375, 1979. [PubMed: 433851]
  • Damiani D, Billerbeck A E C, Goldberg A C K, Setian N, Fellous M, Kalil J: Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome. Hum. Genet. 85:85-88, 1990. [PubMed: 2358305]
    ZFY, the Y-specific fragment, was not detected.
    MIM#: 306100
  • de Chadarevian J P, Vekemans M J J, Bernstein M: Fanconi''s anemia, medulloblastoma, Wilms'' tumor, horseshoe kidney, and gonadal dysgenesis. Arch. Path. Lab. Med. 109:367-369, 1985. [PubMed: 2985019]
    46,XX; patient died after 17 months.
    Index Terms: Fanconi anemia,Gonadal dysgenesis,Kidney ... malformations,Wilms tumor,XY female
  • Decker J P, Lerner H J, Schwartz I: Breast carcinoma in a 46,XX true hermaphrodite. Cancer 49:1481-1484, 1982. [PubMed: 6277466]
    Index Terms: Breast ... cancer,Cancer ... breast,Gonadal dysgenesis,Hermaphrodism ... true,XY female
  • Deligdisch L, Richards C J, Reyniak V J: Pure gonadal dysgenesis and gonadal tumors: report of three cases and review of literature. Mt. Sinai J. Med. 55:313-317, 1988. [PubMed: 3070377]
  • Dorus E, Amarose A P, Koo G C, Wachtel S S: Clinical, pathologic, and genetic findings in a case of 46,XY pure gonadal dysgenesis (Swyer''s syndrome). II. Presence of H-Y antigen. Am. J. Obst. Gynecol. 127:829-831, 1977. [PubMed: 851138]
    An 18 year-old showed a positive test for H-Y antigen suggesting that its presence may not be sufficient to complete masculization of the embryonic mammalian gonad.
    Index Terms: Swyer syndrome
  • Erickson R P, Verga V, Dasouki M: Use of a probe for the putative sex determining gene, zinc finger Y, in the study of patients with ambiguous genitalia and XY gonadal dysgenesis. AJMG 36:232-236, 1990. [PubMed: 2368811]
  • Fechner P Y, Rosenberg C, Stetten G, Cargille C B, Pearson P L, Smith K D, Migeon C J, Berkovitz G D: Nonrandom inactivation of the Y-bearing X chromosome in a 46,XX individual: evidence for the etiology of 46,XX true hermaphroditism. Cytogenet. Cell Genet. 66:22-26, 1994. [PubMed: 8275702]
    Fuqua J S, McLaughlin J, Perlman E J, Berkovitz G D.: Analysis of the SRY gene in gonadal tissue of subjects with 46,XY gonadal dysgenesis. J. Clin. Endocr. Metabol. 82:701-702, 1997. [PubMed: 9024280]
    Hawkins J R, Goodfellow P, Berkowitz G: Reply to Mittwoch. AJHG 52:1273, 1993.
    Hawkins J R, Taylor A, Goodfellow P N, Migeon C J, Smith K D, Berkovitz G D: Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. AJHG 51:979-984, 1992. [PMC free article: PMC1682856] [PubMed: 1415266]
    Mittwoch U: Identical SRY mutations with different phenotypic effects. AJHG 52:1272-1273, 1993. [PMC free article: PMC1682266] [PubMed: 8503456]
    Index Terms: SRY,Hermaphroditism
  • Gaal M, Laszlo J, Bosze P: 46,XY pure gonadal dysgenesis with non-fluorescent Y chromosome. Clin. Genet. 14:83-89, 1978. [PubMed: 80294]
  • Harkins P G, Haning R V, Shapiro S S: Renal failure with XY gonadal dysgenesis: Report of the second case. Obst. Gynecol. 56:751-752, 1980. [PubMed: 7443120]
  • Hersh J H, Kable W T, Yen F F, Yussman M A, Weisskopf B: A case of familial XY gonadal dysgenesis. Fert. Ster. 34:599-601, 1980. [PubMed: 7450079]
    Two sisters, aged 18 and 17 years old, are presented. They were H-Y antigen negative.
  • Hill J A, McKenna H: Pure gonadal dysgenesis. An XY female with gonadoblastoma and adenofibroma. Aust. N. Z. J. Obst. Gynecol. 14:50-52, 1974.
    Index Terms: Adenofibroma,Gonadoblastoma,Gonadal dysgenesis,XY female
  • Holland M J, Fray R E: A rare case of intersex: 46XY gonadal dysgenesis. Aust. N. Z. J. Obst. Gynecol. 30:179-181, 1990. [PubMed: 2400367]
  • Isurugi K, Aso K, Ishida H, Suzuki T, Kakizoe T, Motegi T, Nishi T, Aoki H: Prepubertal XY gonadal dysgenesis. Pediatrics 59:569-573, 1977. [PubMed: 557787]
    Patients were 2 and 7 year olds. The occurrence of gonadal tumors is probably related to the hypergonadotropism existing from childhood as well as to genetic predisposition of the cryptorchid testis in the presence of a Y chromosome.
    Index Terms: Cryptorchidism, (see also Testes, undescended),Gonadal dysgenesis,Gonadal dysgenesis ... hypergonadotropism,XY female
  • Jones H W, Lee P A, Rock J A, Areher D F, Migeon C J: A genetic male patient with 17 alpha-hydroxylase deficiency. Obst. Gynecol. 59:254-259, 1982. [PubMed: 6979016]
    Marcantonio S M, Fechner P Y, Migeon C J, Perlman E J, Berkovitz G D: Embryonic testicular regression sequence: a part of the clinical spectrum of 46,XY gonadal dysgenesis. AJMG 49:1-5, 1994. [PubMed: 8172233]
    9 patients were studied.
    4 patients had absence of gonadal tissues, 5 had unilateral gonadal tissue with abnormal sex differentiation.
  • Madan K, Shoemaker J: XY females with enzyme deficiencies of steroid metabolism. Hum. Genet. 53:291-295, 1980. [PubMed: 6989745]
  • Meyers C M, Boughman J A, Rivas M, Wilroy R S, Simpson J L. : Gonadal (Ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form. AJMG 63:518-524, 1996. [PubMed: 8826428]
    Simpson J L: Genetic forms of gonadal dysgenesis in 46,XX and 46,XY individuals. Seminars in Reproduct. Endocrino. 1:93-100, 1983.
    Simpson J L, Photopulos G: The relationship of neoplasia to disorders of abnormal sexual differentiation. BD-OAS XII(No. 1):15-20, 1976. [PubMed: 11008]
  • Moltz L, Schwartz U, Pickartz H, Hammerstein J, Wolf U: XY gonadal dysgenesis: aberrant testicular differentiation in the presence of H-Y antigen. Obst. Gynecol. 58:17-25, 1981. [PubMed: 7195530]
    Authors have concluded that the presence of the H-Y antigen per se does not guarantee normal testicular organogenesis, and that defective H-Y antigen binding to its gonadal reaceptors triggers aberrant testicular differentiation in 46,XY H-Y+GD.
  • Moreira-Filho C A, Toledo S P A, Bagnolli V R, Frota-Pessoa O, Wajntal A: H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis. Hum. Genet. 53:51-56, 1979. [PubMed: 535902]
    Index Terms: Swyer syndrome
  • Nazareth H R de S, Moreira-Filho C A, Cunha A J B, Vieira-Filho J P B, Lengyel A M J, Lima M C: H-Y antigen in 46,XY pure testicular dysgenesis. AJMG 3:149-154, 1979. [PubMed: 474628]
    Results were positive for H-Y antigen.
  • Nonomura N, Nakamura M, Namiki M, Kiyohara H, Mizutani S, Okuyama A, Sonoda T: Mixed gonadal dysgenesis: case reports and a review of 65 Japanese cases. Arch. Androl. 26:15-19, 1991. [PubMed: 2009025]
    Four cases were studied.
    Patients 1, 2, & 4:46,XY.&Patient 3:mos45,X/46,XYq-.
    External genitalia were abnormal.,Patient 3 was found to have bilateral fallopian tubes, coarctation of the aorta, and incomplete duplication of kidneys and ureter.
    Patient 3 also reported by Shimoe and Mizutani (1971), Acta Urol. Jpn. 17:697-704.,Patient 2 also reported by Seno et al (1985), J. Urol. (Fukuoka, Jpn) 47:171-178.
  • Nordenskjold A, Fricke G, Anvret M.: Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. Hum. Genet. 96:102-104, 1995. [PubMed: 7607640]
    27 cases were studied. It is concluded that isolated gonadal dysgenesis is not caused by mutations in the WT1 gene.
    MIM#: 194070
    Index Terms: WT1 gene
  • Ogata T, Matsuo N: 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, 1992. [PMC free article: PMC1016057] [PubMed: 1518022]
    Index Terms: Growth
  • Passarge E, Wolf U: Genetic heterogeneity of XY gonadal dysgenesis (Swyer syndrome): H-Y antigen-negative XY gonadal dysgenesis associated with inflammatory bowel disease. AJMG 8:437-441, 1981. [PubMed: 7246614]
    Same patient as Wolf (1979) case 29. Patient Re (Sch 030661/77E779).
    Index Terms: Swyer syndrome
  • Phansey S A, Satterfield R, Jorgenson R J, Salinas C, Yoder F E, Mathur R S, Williamson H O: XY gonadal dysgenesis in three siblings. Am. J. Obst. Gynecol. 138:133-138, 1980. [PubMed: 7424978]
  • Pickartz H, Moltz L, Altenahr E: XY(H-Y+) gonadal dysgenesis. Morphological examinations of four cases by light and electron microscopy. Virch. Arch. Path. Anat. Histol. 389:103-117, 1980. [PubMed: 7192897]
  • Portuondo J A, Neyro J L, Benito J A, de los Rios A, Barral A: Familial 46,XX gonadal dysgenesis. Int. J. Fertil. 32:56-58, 1987. [PubMed: 2880817]
  • Puck S M, Haseltine F P, Francke U: Absence of H-Y antigen in an XY female with campomelic dysplasia. Hum. Genet. 57:23-27, 1981. [PubMed: 7196381]
    Index Terms: Campomelic dysplasia,Gonadal dysgenesis,XY female
  • Quayle S A, Copeland K C: 46,XX gonadal dysgenesis with epibulbar dermoid. AJMG 40:75-76, 1991. [PubMed: 1909490]
    Index Terms: Epibulbar dermoid
  • Rangnekar G V, Loya B M, Goswami H K, Sengupta L K: Premature centromere divisions and prominent telomeres in a patient with persistent Mullerian duct syndrome. Clin. Genet. 37:69-73, 1990. [PubMed: 1967991]
    MIM#: 176430
    Index Terms: Mullerian ... duct syndrome,Premature ... centromere division
  • Same entry as in 0Yq110 (Rary et al, 1979).

  • Roach D J, Tho S P T, Plouffe L, McDonough P G: Asymmetric gonadal dysgenesis in a 46,XY individual. Adolesc. Ped. Gynecol. 1:129-130, 1988.
    Patient was a 16 year old black female.
    There was no clinical or biochemical evidence of androgen overproduction.
  • Russell M H, Wachtel S S, Davis B W, Cahill L T, Groos E, Niblack G D, Burr I M: Ovarian development in 46,XY gonadal dysgenesis. Hum. Genet. 60:196-199, 1982. [PubMed: 7076261]
  • Same entry as in 45,X (Rutgers J L, 1991).

  • Sauer M V, Lobo R A, Paulson R J: Successful twin pregnancy after embryo donation to a patient with XY gonadal dysgenesis. Am. J. Obstet. Gynecol. 161:380-381, 1989. [PubMed: 2764056]
  • Same entry as in 10q253 (Seaver et al, 1994).

  • Sen Gupta P C: Atypical female intersex. Brit. J. Obstet. Gynecol. 99:689-696, 1992. [PubMed: 1390477]
    An interesting case with successful surgical intervention in a 23 year old patient.
  • Shickmanter B, Wachtel S S, Cahill L T, Ross J, Shreefter M, Booth E, Scully R E: H-Y antigen in a 46,XX female with dysgenetic ovaries. J. Clin. End. Met. 60:1042-1046, 1985. [PubMed: 3980668]
  • Sills I N, Rapaport R, Skuza K A, Horlick M N B: 46,XX pure gonadal dysgenesis with growth hormone deficiency and impaired 3 beta-hydroxysteroid dehydrogenase activity. AJMG 42:100-103, 1992. [PubMed: 1339198]
    Patient presented at age 11.9 years with short stature, absence of breast development, and excessive pubic hair.
    Index Terms: Growth hormone,Hydroxysteroid dehydrogenase activity
  • Sulewski J M, Dang T P, Ward S, Ladda R L: Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21. J. Med. Genet. 17:321-323, 1980. [PMC free article: PMC1048581] [PubMed: 6451706]
    Patient was 19 years old with no clinical features of either autosomal trisomy. Gonadal dysgenesis was manifested by late developmental problems of amenorrhea, sexual infantilism, and gonadal neoplasia.
    Mos 46,XY(75%)/48,XY,+8,+21.
    Index Terms: Down syndrome (Trisomy 21),Gonadal dysgenesis,Sex-infantile,Tumors ... neoplasia, gonadal,XY female
  • Szamborski J, Obrebski T, Starzynska J: Germ cell tumors in monozygous twins with gonadal dysgenesis and 46,XY karyotype. Obst. Gynecol. 58:120-122, 1981. [PubMed: 7243139]
    Index Terms: Tumors ... neoplasia, germ cell
  • Tar A, Solyom J, Gyorvari B, Ion A, Telvi L, Barbaux S, Souleyreau N, Vilain E, Fellous M, McElreavey K.: Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion. Hum. Genet. 96:464-468, 1995. [PubMed: 7557971]
    The deleted X was late replicating. The 7 1/2 year old patient had MR, with a series of discrete somatic abnormalities, including skin and retinal pigmentation.
    Chromosomal Aneuploidy: Xp-
  • Villanueva A L, Benirschke K, Campbell J, Wachtel S S, Rebar R W: Complete development of secondary sex characteristics in a case of 46,XY pure gonadal dysgenesis. Obst. Gynecol. 64:68s-72s, 1984. [PubMed: 6433251]
  • Wachtel S S, Koo G C, de la Chapelle A, Kallio H, Heyman J M, Miller O J: H-Y antigen in 46,XY gonadal dysgenesis. Hum. Genet. 54:25-30, 1980. [PubMed: 7390478]
    Warner B A, Monsaert R P, Stump P G, Kulin H E, Wachtel S S: 46,XY gonadal dysgenesis: Is oncogenesis related to H-Y phenotype or breast development? Hum. Genet. 69:79-85, 1985. [PubMed: 3967892]
    Wolman S R, McMorrow L E, Roy S, Koo G C, Wachtel S S, David R: Aberrant testicular differentiation in 46,XY gonadal dysgenesis: morphology, endocrinology, serology. Hum. Genet. 55:321-325, 1980. [PubMed: 7203465]
    Blood leukocytes were typed H-Y+ in five XY females with gonadal dysgenesis and in other studies blood leukocytes from XY females with gonadal dysgenesis were typed H-Y-. It is inferred that testicular development requires engagement of H-Y and its receptor. XY gonadal dysgenesis is the consequence of functional absence of the H-Y testis inducer as in the following conditions: failure of synthesis of H-Y or failure of specific binding of H-Y.
  • Yoon I L, Amanti J, Olszowy D R, Koh D H: Mixed gonadal dysgenesis. Association with unilateral testis and XY chromosome complement. JAMA 235:524-526, 1976. [PubMed: 946101]
  • Youlton R, Michelsen H, Be C, Cruz-Coke R: Pure XX gonadal dysgenesis in identical twins. Clin. Genet. 21:262-265, 1982. [PubMed: 6809371]
    It is suggested that a form of familial gonadal dysgenesis is an autosomal recessive defect.
    Index Terms: Twins ... in Gonadal dysgenesis
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106348
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