Absence of the testicular determining factor gene SRY in XX true hermaphrodites and presence of this locus in most subjects with gonadal dysgenesis caused by Y aneuploidy

Sandra P.T. Tho, Lawrence C. Layman, Kenneth D. Lanclos, Leo Plouffe, J. Rogers Byrd, Paul G. McDonough

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

OBJECTIVES: The purpose of our study was to discover whether the testicular determining factor gene SRY (sex-determining region on Y) is present or absent in XX true hermaphrodites and in subjects with gonadal dysgenesis caused by Y aneuploidy. STUDY DESIGN: We screened five XX true hermaphrodites and 24 subjects with gonadal dysgenesis caused by Y aneuploidy for the presence or absence of SRY. With the polymerase chain reaction technique, the sequence coding the 80 amino acid-conserved motif was amplified. The 0.9 kb HincII pY53.3 subdone, which covers the open reading frame of SRY, serves as a probe for Southern blot analysis. RESULTS: Test results for all five XX true hermaphrodites were negative for SRY. Conversely, 22 of the 24 individuals with 45,X/46,XY gonadal dysgenesis were positive for SRY, including the 10 subjects with only bilateral streak gonads. CONCLUSIONS: The absence of SRY in XX true hermaphrodites and the presence of SRY in 10 subjects with 45,X/46,XY constitution who harbored only bilateral streak gonads seem to indicate that multiple genes are involved in gonadal differentiation.

Original languageEnglish (US)
Pages (from-to)1794-1802
Number of pages9
JournalAmerican journal of obstetrics and gynecology
Volume167
Issue number6
DOIs
StatePublished - Dec 1992

Keywords

  • Gonadal dysgenesis
  • SRY gene
  • Y probe
  • testicular determining factor

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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