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

9 Citations (Scopus)

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 - Jan 1 1992

Fingerprint

sry Genes
Gonadal Dysgenesis
Aneuploidy
Gonads
46,XY Gonadal Dysgenesis
Amino Acid Motifs
Constitution and Bylaws
Southern Blotting
Open Reading Frames
Polymerase Chain Reaction

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)
  • Obstetrics and Gynecology

Cite this

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

In: American Journal of Obstetrics and Gynecology, Vol. 167, No. 6, 01.01.1992, p. 1794-1802.

Research output: Contribution to journalArticle

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AU - Rogers Byrd, J.

AU - McDonough, Paul G

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AB - 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.

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