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

25 Citations (Scopus)

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

Fingerprint

46,XY Gonadal Dysgenesis
Gonadal Dysgenesis
Phenotype
DNA
Gonads
Point Mutation
Base Pairing
Genes
XY female 46

Keywords

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

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome). / Behzadian, M. Ali; Tho, Sandra P.T.; McDonough, Paul G.

In: American Journal of Obstetrics and Gynecology, Vol. 165, No. 6 PART 1, 01.01.1991, p. 1887-1890.

Research output: Contribution to journalArticle

Behzadian, M. Ali ; Tho, Sandra P.T. ; McDonough, Paul G. / The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome). In: American Journal of Obstetrics and Gynecology. 1991 ; Vol. 165, No. 6 PART 1. pp. 1887-1890.
@article{8f4a76ff812d49eca1355bc9dd3cccb4,
title = "The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome)",
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.",
keywords = "Swyer syndrome, Testicular determining factor, pure gonadal dysgenesis, sex-reversed females",
author = "Behzadian, {M. Ali} and Tho, {Sandra P.T.} and McDonough, {Paul G}",
year = "1991",
month = "1",
day = "1",
doi = "10.1016/0002-9378(91)90051-R",
language = "English (US)",
volume = "165",
pages = "1887--1890",
journal = "American Journal of Obstetrics and Gynecology",
issn = "0002-9378",
publisher = "Mosby Inc.",
number = "6 PART 1",

}

TY - JOUR

T1 - The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome)

AU - Behzadian, M. Ali

AU - Tho, Sandra P.T.

AU - McDonough, Paul G

PY - 1991/1/1

Y1 - 1991/1/1

N2 - 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.

AB - 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.

KW - Swyer syndrome

KW - Testicular determining factor

KW - pure gonadal dysgenesis

KW - sex-reversed females

UR - http://www.scopus.com/inward/record.url?scp=0026327049&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026327049&partnerID=8YFLogxK

U2 - 10.1016/0002-9378(91)90051-R

DO - 10.1016/0002-9378(91)90051-R

M3 - Article

VL - 165

SP - 1887

EP - 1890

JO - American Journal of Obstetrics and Gynecology

JF - American Journal of Obstetrics and Gynecology

SN - 0002-9378

IS - 6 PART 1

ER -