Tülin Çora

Incidence of Chromosome 8, 10, X and Y Aneuploidies in Sperm Nucleus of Infertile Men Detected by FISH

We studied the frequency of aneuploidy in sperm nuclei of six infertile men with abnormal semen profile and normal karyotype, using fluorescence in situ hybridization (FISH) with DNA probes for chromosomes 8, 10, X and Y. The control group consisted of four healthy fertile men with normal karyotype and semen profiles. The purpose of this study was to determine whether there are differences between infertile male donors and control donors for: (1) the incidence of sex chromosome aneuploidy, and (2) the number of disomies for chromosomes 8, and 10 cosegregating with chromosomes X and Y. FISH analysis showed no significant differences of sex ratios of the sperm nuclei in and between infertile and control groups. The most significant abnormalities in the infertile group were clusters of sperm nuclei bearing XY and XYY. In addition, the incidence of disomic sperm nuclei for chromosomes 8 and 10 consegregating with sex chromosomes was not significantly different beween the patient and control groups, nor within them. However, the total frequency of aneuploid sperm nuclei was significantly different beween the infertile group and the control group. We observed a significant excess of sperm nuclei bearing chromosome 10 along with disomy for chromosome Y (10YY). In conclusion, our results from FISH analysis demonstrate a significantly increased frequency of aneuploidy for the sex chromosomes in sperm nuclei from infertile men. Therefore it may be concluded that infertility is a risk factor for sex chromosome aneuploidy in sperm nuclei.

Evaluation of HLA-A, -B, -Cw, and -DRB1 alleles frequency in Turkish patients with nasal polyposis.

Objective To evaluate whether there is a relationship between HLA-A, -B, -Cw, and -DRB1 alleles and developing nasal polyposis (NP). Study Design Data from 66 patients with NP were compared with data from 100 healthy randomly selected controls. Asthma, ASA (acetylsalicylic acid) triad, polyp score, and previous sinonasal surgery were also recorded. Subjects and Methods Genotyping of the HLA-A, -B, -Cw, and -DRB1 alleles were performed with polymerase chain reaction (PCR) with the sequence-specific primer (SSP) method. Data were analyzed by using a Pearson χ 2 test. Results The HLA-B*07 and -Cw*12 alleles were found to be significantly higher in the NP patients compared with the control group, whereas the HLA-B*57 and HLA-Cw*04 alleles were significantly lower (P < 0.05). The HLA-A*24, HLA-Cw*12, and HLA-DRB1*04 alleles were determined to be significantly higher in the NP patients with asthma and ASA triad (P < 0.05). Conclusions Our results show that some of the HLA alleles seem to be associated with the genetic susceptibility to develop NP in the Turkish population.

46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: association or coincidence?

46,XX maleness is a rare abnormality of gonadal differentiation. We present dizygotic twins, one having ambiguous genitalia due to 2-hydroxylase deficiency, and the other having normal male genitalia with 46,XX maleness. One of the twins was referred to the endocrinology unit at 2 days old because of ambiguous genitalia. The other twin with bilateral undescended testes located in the inguinal canal was diagnosed with 46,XX maleness. The karyotype was 46,XX. Molecular analysis revealed the presence of SRY in the latter twin without Müllerian structures. Association of congenital adrenal hyperplasia (46,XX 21-hydroxylase deficiency) and 46,XX maleness in twins has not been previously reported.