OBJECTIVETo investigate the molecular mechanism of sex reversal in a 46,XY female patient.

METHODSClinical data was collected. Peripheral blood lymphocytes were cultured for G-banding chromosomal analysis and DNA extraction. Sex-determining region of Y-chromosome (SRY) gene was analyzed with polymerase chain reaction (PCR) and DNA sequencing .

RESULTSAlthough the patient has a female appearance, he has a karyotype of 46,XY. The SRY gene can be detected in all samples. The 6th base of SRY gene coding region was deleted, resulting in a frameshifting mutation and premature termination of protein translation.

CONCLUSIONThe sex reversal of the patient is probably due to abnormal embryonic development caused by the SRY gene mutation.

Adolescent ; Amino Acid Sequence ; Disorders of Sex Development ; genetics ; Female ; Genes, sry ; Humans ; Molecular Sequence Data

PURPOSE: To find the most effective method for extraction of cell-free DNA (cf-DNA) from maternal plasma, we compared a blood DNA extraction system (blood kit) and a viral DNA extraction system (viral kit) for non-invasive first-trimester fetal gender determination. MATERIALS AND METHODS: A prospective cohort study was conducted with maternal plasma collected from 44 women in the first-trimester of pregnancy. The cf-DNA was extracted from maternal plasma using a blood kit and a viral kit. Quantitative fluorescent-polymerase chain reaction (QF-PCR) was used to detect the SRY gene and AMEL gene. The diagnostic accuracy of the QF-PCR results was determined based on comparison with the final delivery records. RESULTS: A total of 44 women were tested, but the final delivery record was only obtained in 36 cases which included 16 male-bearing and 20 female-bearing pregnancies. For the blood kit and viral kit, the diagnostic accuracies for fetal gender determination were 63.9% (23/36) and 97.2% (35/36), respectively. CONCLUSION: In non-invasive first-trimester fetal gender determination by QF-PCR, using a viral kit for extraction of cf-DNA may result in a higher diagnostic accuracy.
Cohort Studies ; DNA ; DNA, Viral ; Female ; Genes, sry ; Humans ; Plasma ; Pregnancy ; Prospective Studies

Sex typing may become the start point in investigations that are usually performed through amelogenin typing. In cases involving genotype-phenotype discrepancy, amelogenin typing could yield misleading results. The rare XX male syndrome is characterized by a phenotypic male with a 46, XX female karyotype. In this point, this case report would help understand the importance of genotype-phenotype discrepancy.
Amelogenin ; Female ; Genes, sry ; Humans ; Karyotype ; Klinefelter Syndrome ; Male ; Y Chromosome

OBJECTIVE: To assess the effectiveness of hidden Y chromosome and marker chromosome identification by FISH (Fluorescence in Situ Hybridization) in Turner syndrome. METHODS: Data was collected retrospectively from 25 patients with or without marker chromosome confirmed Turner syndrome by chromosomal study in Department of Obstetrics and Gynecology, Yonsei University Medical Center. FISH was performed on all patients for hidden Y chromosome and marker chromosome identification. RESULTS: FISH showed the origin of marker chromosome in 9 patients whose karyotypes were 45,X/ 46,X+mar, 5 patients were positive for SRY gene. Of 16 patients whose karyotypes were 45,X or 45,X/46,XX, there was no hidden Y chromosome indentification by FISH. CONCLUSION: FISH for marker chromosome identification in Turner syndrome is a rapid and effective procedure. But to enable widespread use of hidden Y chromosome identification by FISH in Turner syndrome, further studies involving many cases are warranted.
Academic Medical Centers ; Genes, sry ; Gynecology ; Humans ; Karyotype ; Obstetrics ; Retrospective Studies ; Turner Syndrome* ; Y Chromosome*

Existence of Y derived chromosome in Turner patients is significant due to the risk of gonadoblastoma development, but cytogenetic analysis may fail to detect low levels of Y chromosomal materials. Recent studies using PCR based methods showed higher sensitivity to detect Y-specific sequences, in patients who were Y chromosome-negative cytogenetically. In this study PCR was performed on 44 Turner patients with no Y chromosome by cytogenetic analysis to detect the SRY, AMELY, ZFY, and DYZ1 sequences. Of seven patients whose karyotypes were 45,X/46,X,+mar, three patients were positive for SRY, ZFY, and AMELY. DYZ1 sequences was negative in them. And any of SRY, ZFY, AMELY, and DYZ1 sequences was detected in the remaining 37 patients. This result shows that PCR analysis for Y-specific sequences in Turner patients, especially in patients who have marker chromosome is a significant effort.
Cytogenetic Analysis ; Genes, sry ; Gonadoblastoma ; Humans ; Karyotype ; Polymerase Chain Reaction ; Turner Syndrome* ; Y Chromosome

PURPOSE: We investigated the clinical characteristics and relationship between chromosome and its phenotypic expression in patients with 45 XO/46XY mosaicism or 45 XO with SRY gene. MATERIALS AND METHODS: 11 patients with 45XO/46XY chromosomal abnormality and 4 patients with 45XO with SRY positive reaction admitted from 1990 to 1996 were evaluated. Patients were grouped according to chromosome and gonadal expression. Group A consisted of patients with 45XO/46XY chromosome and unilateral streak gonad, group B patients with 45XO chromosome, SRY positive reaction and unilateral streak gonad and group C patients with 45XO/46XY chromosome and bilateral streak gonads. RESULTS: Of the total 15 patients, the number of patients in group A, B, and C were 8, 4, and 3, respectively. SRY gene was positive in all group A and B patients but only one patient was positive in group C. Of the 8 patients in group A, 5 patients had a high XY mosaicism ratio compared to XO whereas an equal ratio was observed in the remaining 3 patients. Of the 4 male penotype patients only 1 patient had a high XY mosaicism ratio compared to XO while 3 patients displayed an equal ratio. There was no difference in associated anomaly and the degree of severity of ambiguity according to the mosaicism ratio in all patients. CONCLUSIONS: There was no definite correlation between the mosaicism ratio and phenotypic expression. Presence of SRY gene in 45XO patients may suggest MGD(mixed gonadal dysgenesis) and therefore, the evaluation SRY gene could be useful in the diagnosis of 45XO patients with ambiguous genitalia.
Chromosome Aberrations ; Diagnosis ; Disorders of Sex Development ; Genes, sry* ; Gonadal Dysgenesis, Mixed ; Gonads ; Humans ; Male ; Mosaicism*

OBJECTIVE: To know when we can identify fetal Y chromosome SRY gene by using fetal DNA in maternal plasma. METHODS: DNA from maternal plasma of 62 pregnant women (48: inpatients, 14: outpatients) underwent a sensitive Y-PCR assay to identify SRY gene of Y chromosome. RESULTS: Of the patients, fetus-derived Y sequences were detected in 37 (88.1%) of the 42 maternal plasma samples from women bearing male fetuses. One of the 20 women bearing female fetuses had positive result from plasma DNA. Seventh gestational week was the earliest gestation of gender identification. CONCLUSION: We could identify fetal gender using fetal DNA in maternal plasma (sensitivity 88.1%). The earlist to detect was 7th gestational week.
DNA* ; Female ; Fetus ; Genes, sry ; Humans ; Inpatients ; Male* ; Plasma* ; Pregnancy ; Pregnant Women ; Y Chromosome

45,X/47,XYY mosaicism is a rare sex chromosomal disorder with clinical information limited to 25 cases in the literature. We report an unusual mosaic Turner syndrome case in a 35-year old Korean woman with a phenotypic female, primary amenorrhea, short stature, immature secondary sexual characteristics. Cytogenetic analysis including G- and Q-banding revealed 45,X/47,XYY mosaicism, and SRY gene was demonstrated by polymerase chain reaction(PCR). Prophylactic bilateral gonadectomy was performed because the presence of Y-chromosomal sequences in Turner stigmata may predispose this patient to gonadoblastoma formation.
Adult ; Amenorrhea ; Christianity ; Chromosome Disorders ; Cytogenetic Analysis ; Female ; Genes, sry ; Gonadoblastoma ; Humans ; Mosaicism ; Turner Syndrome*

BACKGROUNDAlthough great advances in techniques for noninvasive prenatal diagnosis using fetal cells from maternal peripheral blood have achieved, current technology does not meet the demands required for clinical use. In this study, we aimed to establish reliable methods for the gene analysis of fetal cells from maternal peripheral blood.

METHODSPrimed extension preamplification (PEP)-polymerase chain reaction (PCR), multiple primed in situ labeling (PRINS), and nested PCR were individually applied to detect the sex determining region Y (SRY) gene in single fetal cells collected from maternal peripheral blood.

RESULTSThe sensitivity and specificity of the detection of the SRY gene by PEP-PCR were 97.39% (149/153) and 99.17% (119/120), respectively. The sensitivity and specificity of PRINS were 97.56% (40/41) and 100% (35/35), respectively. The sensitivity and specificity of nested-PCR were 80.00% (24/30) and 87.50% (14/16), respectively.

CONCLUSIONSPEP-PCR and PRINS are reliable techniques for the gene analysis of single fetal cells from maternal peripheral blood because of their high sensitivity and specificity. PEP-PCR and PRINS can be used as standard methods of noninvasive prenatal diagnosis using single fetal cells from maternal peripheral blood.

Adult ; Female ; Genes, sry ; Humans ; Polymerase Chain Reaction ; methods ; Pregnancy ; blood ; Prenatal Diagnosis ; methods ; Sensitivity and Specificity

OBJECTIVETo establish a primed in situ labeling (PRINS) technique which can be more effective in detection of single copy gene.

METHODSOn the basis of traditional PRINS, new reagents and procedures, such as TaqStart antibody, four primers of the sex determining region Y (SRY) gene and TSA(TM) Biotin System were included in detection of the SRY gene. Meanwhile, fluorescence in situ hybridization(FISH) to detect the SRY gene was used as control.

RESULTSFifty metaphases were scored. PRINS labeling showed signals for the SRY on the Y chromosome at band Yp11.3 in all metaphases. These signals were as distinct as that from results of FISH.

CONCLUSIONThis improved method is ideal for rapidly localizing single copy genes and small DNA segments. And PRINS is a cost- and time-effective alternative to FISH.

Gene Dosage ; Genes, sry ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Metaphase ; genetics ; Primed In Situ Labeling ; methods