Detection of Y Mosaicism in Blood and Gonad of Patients with Gonadal Dysgenesis.
- Author:
Jin Yeong KIM
;
Sang Joon LEE
;
Ki Hyun PARK
;
Jung Yeon KIM
;
Sang Wook BAI
;
Byung Seok LEE
;
Se Kwang KIM
;
In Kyu KIM
;
Dong Je CHO
;
Chan Ho SONG
;
Jae Wook KIM
;
Ho Joon LEE
- Publication Type:Original Article
- MeSH:
Genes, sry;
Gonadal Dysgenesis*;
Gonadal Dysgenesis, 46,XY;
Gonadoblastoma;
Gonads*;
Humans;
Karyotyping;
Leukocytes;
Mass Screening;
Mosaicism*;
Polymerase Chain Reaction;
Prostaglandins D;
Sex Differentiation;
Turner Syndrome;
Y Chromosome
- From:Korean Journal of Fertility and Sterility
1999;26(3):457-466
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
OBJECTIVE: The presence of Y Chromosome in patients with gonadal dysgenesis is related to the risk of gonadoblastoma. Since the patients with abnormal sexual differentiation may have cryptic Y mosaicism, it is important to detect the presence of Y material in these patients. But sometimes it is difficult to detect Y material only with karyotyping. This study was performed to evaluate the usefulness of the SRY gene screening in blood and gonad by using PCR in detecting the presence of Y material and possible tissue mosaicism in patients with gonadal dysgenesis as Tumer syndrome and 46, XY pure gonadal dysgenesis (PGD, Swyer syndrome). METHOD: In 26 patients with gonadal dysgenesis, we screened for Y material by using PCR for SRY gene in peripheral leukocytes and in gonadal tissues of some patients. They were 22 cases of Tumer syndrome (7 45,XO, 2 46,Xi(Xq), 3 45,XO/46,XX, 5 45,XO/46Xi(Xq), 1 45,XO/46,XY, 1 45,XO/46,Xi(Yq), 1 45,XO/47,XYY, 1 46,XX,del(X)(q24) and 1 46,X,+mar) and 4 cases of 46,XY pure gonadal dysgenesis. PCR for SRY gene in the gonadal tissue was performed in 5 Turner syndrome and 2 PGD to determine the cryptic Y mosaicism between blood and gonad. RESULTS: By using PCR analysis for SRY, Y chromosome material was detected in the blood of 4 of 22 Turner syndrome patients (45,XO/46,Xi(Xq), 45,XO/46,Xi(Yq), 45,XO/46,XY, and 45,XO/47,XYY), 3 of 4 46,XY pure gonadal dysgenesis. Discrepancy between karyotyping and blood PCR for SRY was noted in 1 Turner syndrome (45,XO/46,Xi(Xq)) and 1 PGD. Laparoscopic gonadectomy was performed in Y containing or SRY positive cases. In addition, PCR analysis for SRY in the gonads of 5 Turner syndrome and 2 PGD showed discrepancy between blood and gonad or between both gonads in 3 Turner syndrome (45,XO/46,Xi(Xq), 45,XO/46,Xi(Yq), 45,XO/46,XY) and 2 PGD patients. CONCLUSION: In gonadal dysgenesis, PCR analysis for SRY gene is useful to detect the cryptic Y mosaicism that is sometimes undetected by karyotyping. And since there may be tissue mosaicism, it is necessary to evaluate Y mosaicism in various tissues even in the case without Y chromosome on karyotyping.
