The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome)

M. Ali Behzadian, Sandra P.T. Tho, Paul G McDonough

Research output: Contribution to journalArticle

26 Scopus citations

Abstract

Subjects with 46,XY gonadal dysgenesis (Swyer syndrome) have a distinctive phenotype. They are normal or tall in stature, lack somatic anomalies, and possess bilateral rudimentary gonads. Critical Yp deletions have been described in some cases, but in the majority no defects at the molecular level have been reported. To verify the presence or absence of SRY, the putative testicular-determining factor gene, specific primers were designed to amplify the conserved region of the SRY gene. Deoxyribonucleic acid from control males (n = 10) and sex-reversed females with the Swyer syndrome phenotype (n = 5) generated the anticipated 310 op band. This Y-specific band was absent in the deoxyribonucleic acid from control females (n = 9). To search for possible point mutations, the amplified products of all study subjects and one control male were sequenced in both orientations. The base pair sequences were all identical and similar to the previously publisned report.

Original languageEnglish (US)
Pages (from-to)1887-1890
Number of pages4
JournalAmerican Journal of Obstetrics and Gynecology
Volume165
Issue number6 PART 1
DOIs
StatePublished - Jan 1 1991

Keywords

  • Swyer syndrome
  • Testicular determining factor
  • pure gonadal dysgenesis
  • sex-reversed females

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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