Skip to main content
SpringerLink
Log in

XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene

  • Original Investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

This paper reports a case of XY gonadal dysgenesis in two sisters. Both patients presented an eunochoid female phenotype with normal external genitalia. At laparotomy, the elder sister was found to have bilateral gonadoblastoma. Cytogenetic studies, which included G and C banding and in situ hybridization, showed that the patients had an apparently normal 46, XY karyotype. PCR analyses revealed absence of the conserved portion (HMG box) of the SRY gene and of the Y chromosome pseudoautosomal boundary region sequence in both patients. The presence of the ZFY sequence was detected by Southern hybridization in the two affected sisters. The patients' father (46, XY, no mosaicism detected in peripheral blood lymphocytes) was positive for SRY and ZFY sequences. The occurrence of gonadoblastoma is discussed in terms of the genetic factors that may lead to tumor development.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Almeida JCC, Llerena JC Jr, Jung M, Martins RR, Gomes DM, Reis DF, Cunha AG (1986) Combined cytogenetic techniques and non-fluorescent Y. Cytologic evidence of dic(Yp)(q11) in a previously interpreted 46,XYq-. Ann Genet 29:114–118

    Google Scholar 

  • Barbosa ACC (1994) Caracterização de cromossomos marcadores através de hibridação in situ fluorescente (FISH). MSc thesis, Department of Biology, University of São Paulo, Brazil

    Google Scholar 

  • Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellows M (1990) Genetic evidence equating SRY and the testis-determining factor. Nature 348:448–450

    Google Scholar 

  • Church G, Gilbert W (1984) Genomic sequencing. Proc Natl Acad Sci USA 81:1191–1195

    Google Scholar 

  • Collins C, Kuowl WL, Segraves R, Fuschoe J, Pinkle D, Gray JW (1991) Construction and characterization of plasmid libraries enriched in sequences from single human chromosomes. Genomics 11:997–1006

    Google Scholar 

  • Ellis N, Kidd J, Goodfellow PJ, Kidd K, Goodfellow PN (1990) Strong linkage disequilibrium between the XY274 polymorphism and the pseudoautosomal boundary. Am J Hum Genet 46:950–955

    Google Scholar 

  • Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6–13

    CAS  PubMed  Google Scholar 

  • Gänshirt-Ahlert D, Pawkowitzky IH, Gal A (1986) Three cases of 45X/46XYnf mosaicism. Hum Genet 76:153–156

    Google Scholar 

  • Garvin AJ, Pratt-Thomas HR, Spector M, Spicer SS, Williamson HO (1976) Gonadoblastoma: histologic, ultrastructural, and histochemical observations in five cases. Am J Obstet Gynecol 125:459–471

    Google Scholar 

  • Hawkins JR, Taylor A, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD (1992) Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. Am J Med Genet 51:979–984

    Google Scholar 

  • Ishida T, Tagatz GE, Okagak T (1976) Gonadoblastoma: ultrastructural evidence for testicular origin. Cancer 37:1770–1781

    Google Scholar 

  • Jäger RJ, Anvret M, Hall K, Scherer G (1990) A human XY female with a frameshift mutation in SRY, a candidate testis determining gene. Nature 348:452–454

    Google Scholar 

  • Johnson GD, Araújo CNGM (1981) A simple method of reducing the fading of immunofluorescence during microscopy. J Immunol Methods 43:349–350

    Article  CAS  PubMed  Google Scholar 

  • Koopman P, Gubbay J, Economou A, Jackson DI (1991) Male development of chromosomally female mice transgenic for Sry. Nature 351:117–121

    Google Scholar 

  • Lukusa T, Fryns JP, van den Berghe H (1986) Gonadoblastoma and Y-chromosome fluorescence. Clin Genet 30:683–686

    Google Scholar 

  • McDonough PG, Byrd JR, Tho PT, Otken L (1976) Gonadoblastoma in a true hermaphrodite with a 46,XX karyotype. Obstet Gynecol 47:355–358

    Google Scholar 

  • McElreavy K, Vilain E, Abbas N, Costa J-M, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F, Fellous M (1992) XY sex reversal associated with a deletion 5′ to the SRY “HMG box” in the testis determining region. Proc Natl Acad Sci USA 90:3368–3372

    Google Scholar 

  • Moreira-Filho CA, Frota-Pessoa O, Vianna-Morgante AM, Chu TH, Bisi H, Gollop TR (1982) The H-Y antigen generating and receptor systems in abnormal sexual development. Am J Med Genet 13:401–411

    Google Scholar 

  • Page DC (1987) Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 101 (Suppl):151–155

    Google Scholar 

  • Page DC, Moscher R, Simpson EM, Fischer 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 zinc finger protein. Cell 51:1091–1104

    Google Scholar 

  • Palmer MS, Sinclair AH, Berta P, Ellis NA, Goodfellow PN, Abbas NA, Fellous M (1989) Genetic evidence that ZFY is not the testis-determining factor. Nature 342:937–939

    Google Scholar 

  • Patel SK, Prentice RSA (1972) Gonadoblastoma. Distinctive ovarian tumor. Arch Pathol 94:165–170

    Google Scholar 

  • Petrovic V, Nasioulas S, Chow CW, Voullaire L. Schmidt M, Dahl H (1992) Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. J Med Genet 29:542–546

    Google Scholar 

  • Rehder H (1976) Gonadentumoren bei Intersexualität. Gynäkologe 9:30–38

    Google Scholar 

  • Rosenberg C, Janson M, Nordenskjöld M, Borresen AL, Vianna-Morgante AM (1994) Intragenic reorganization of RB1 in a complex (4; 13) rearrangement demonstrated by FISH. Cytogenet Cel Genet 65:268–271

    Google Scholar 

  • Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY

    Google Scholar 

  • Simpson JL, Blagowidow N, Martin AO (1981) XY gonadal dysgenesis: genetic heterogeneity based upon clinical observations, HY antigen status and segregation analysis. Hum Genet 58:91–97

    Google Scholar 

  • Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf A-M, Lovell-Badge R, Goodfellow PN (1990) A gene from the sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240–244

    Google Scholar 

  • Sorgo W, Gortner L, Bartmann P, Streb HP, Oberhoffer R, Teller WM, Zachmann M, Heymer B, Graf M, Lattermann U, Jäger J, Ebensperger C (1991) Gonadal agenesis in a 46, XY female with multiple malformations and positive testing for the sex-determining region on the Y chromosome. Horm Res 35:124–131

    Google Scholar 

  • Verp MS, Simpson JL (1987) Abnormal sexual differentation and neoplasia. Cancer Genet Cytogenet 25:191–218

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departamento de Imunologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, Av. Prof. Lineu Prestes 2415, 05508-900, São Paulo, SP, Brazil

    Angela S. Barbosa, Thaís E. Ferraz-Costa & Carlos A. Moreira-Filho

  2. Unidade de Endocrinologia, Hospital Brigadeiro, São Paulo, SP, Brazil

    Mauro Semer & Bernardo Liberman

Authors
  1. Angela S. Barbosa
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Thaís E. Ferraz-Costa
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mauro Semer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Bernardo Liberman
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Carlos A. Moreira-Filho
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Barbosa, A.S., Ferraz-Costa, T.E., Semer, M. et al. 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). https://doi.org/10.1007/BF00225076

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00225076

Keywords

Search

Navigation