| Objective: To investigate the cardiovascular, renal and thyroid abnormality and determine the frequency of occult Y chromosomal material for Turner syndrome in Chongqing. So as to provide suggestion for monitoring the patients with Turner syndrome after diagnosis and improve the supervision and care in China.Method: 30 patients with Turner syndrome (TS) were recruited from the outpatient at Children's hospital of Chongqing medical university during 2006.2~2007.8. After general survey and physical examination, patients accepted the detailed detections showed as below:⑴Cardiovascular system, kidneys and thyroid were scanned by color Doppler ultrasound.⑵Cryptic Y chromosomal material was analyzed:①All the patients were evaluated using G-banding of cytogenetics.②Testis-specific protein Y-encoded (TSPY) , Y centromeric DYZ3 repeat(DYZ3),sex-determining region Y (SRY) were amplified by polymerase chain reaction(PCR) using genomic DNA. And the positive products were determined with DNA sequencing.③In patients with Y-sequence, SRY FISH (Fluorescence in situ hybridization) analysis was employed as supplement including count of 500 interphase cells and identification of the chromosomal structure of metaphase cells .Results:⑴All of patients diagnosed by karyotyping presented characteristic of TS. Most of them accepted the detection of bone age, growth hormone level, gonadal hormone level and thyriod function when they came for the first time. However, no further investigation was done after diagnosis.⑵Of 24 individuals, 4.17% showed congenital cardiac malformation; A total of 12.00% had renal abnormalities in 25 cases with renal scan; 29.17% showed abnormalities among 24 cases with thyroid detection.⑶The detection of Y chromosomal material :①The results of karyotyping showed that of the 30 cases, 63.30% were 45,X , 26.7% were 46,XX,iX(q) , and 3.30% was 45,X/46,XX, 46,XX,del(X), Y chromosomal material was not found.②In DNA analysis, we found 3 cases (10.00%)were positive for TSPY,DYZ3 , only 1 (3.30%) was positive for SRY. The DNA sequencing for the products with Y chromosomal material were matched designed genes.③3 cases were all positive for SRY FISH analysis, and the interphase cells of SRY signal were 458(91.60%),384(76.80%),64(12.80%), respectively. In hybridization analysis of metaphase cells, four signals of SRY were positive in one case, every two signals emerged at each end of the chromosome.Conclusions:⑴There are two disadvantages in patients with Turner syndrome. One is that the patients bear unnecessary examination at diagnosis. Other is that supervision is disregard after final diagnosis.⑵It is the first study on complications of Turner syndrome using color Doppler ultrasound in China. The abnormality of cardiovascular system, kidney and thyroid is common in TS of Chongqing.⑶It is the first molecular study on cryptic Y chromosome material in China that 3 Y-specific sequences along the Y chromosome were selected for analysis. The presence of Y chromosomal material is not unusual. It is beneficial for researching phenotype– genotype(kayotype) correlations in TS with identification of chromosomal structure.⑷The evaluation of cardiovascular system, kidneys and thyroid and Y chromosomal mosaicism screening would be mandatory supervision if the patient is diagnosed as TS. It would be suggested that we should have the guideline of TS management suited for China.
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