The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16-and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.
We present a case of a 19-year-old phenotypically normal girl with premature ovarian failure. Cytogenetic analysis using G banding and fluorescence in situ hybridization (FISH) from cultured peripheral blood lymphocytes of the patient and the family revealed a de novo X;15 translocation and the imbalance to be 46,X,t(X;15)(Xpter → Xq21::15q11 → 15qter;15pter → 15q11::Xq21 → Xqter).ish (CEPX+, wep15+, ISNRPN+, PML+, D15S10+, wcp15-, SNRRN-, PML-) [20]. The X chromosome inactivation (XCI) assay revealed a completely skewed XCI pattern in which selective pressure favors an active maternal allele. The Affymetrix 2.7 M cytogenetics whole-Genome array confirmed the chromosomal imbalance and identified disruption of the HDX gene at Xq21, the translocation breakpoint.
Genetic factors are implicated in the response of normal subjects to hepatitis B vaccine. In order to investigate the immunogenetic factors associated with nonresponsiveness to hepatitis B vaccine, 93 health care workers were vaccinated with hepatitis B vaccine. Initial nonresponders (antibody not detected or antibody detected but < 10 mlU/ml) were revaccinated. Only 12 (12.9%) of the 93 health care workers, who had anti-HBs levels of 10 mlU/ml or less after revaccination were defined as absolute nonresponders. HLA typing were performed in these 12 nonresponders, Anti-HBs levels were determined by ELISA method in mlU/ml units. HLA-A,B,C,DR, and DQ typing was performed using the microcytotoxicity test. The HLA-A10 (pc less than 0.01) and CW4 (pc less than 0.006) were decreased whereas DR7 (pc less than 0.09) was increased in nonresponders. Although our initial results suggest the importance of genetic modulation of responsiveness to hepatitis B vaccine, a formal demonstration of the mode of inheritance of unresponsiveness to hepatitis B vaccine and the explanation of the role of genes in this matter will require further studies of families.
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