Clinical and cytogenomic studies in a case of infertility associated with a nonmosaic dicentric Y chromosome.

In this study, a short stature male with infertility is reported. Semen analysis and serum concentrations of FSH, LH, T and PRL were estimated. Chromosome analysis was performed on lymphocytes obtained from both the male and his parents. Cytogenomic studies were performed by fluorescent in situ hybridisation and the CytoScan(™)  HD array analysis to detect Y chromosomal rearrangements and copy number mutations. Semen analysis showed severe oligozoospermia. Numerous spermatogenic cells were observed in the semen, and approximately 60% of the cells examined in semen were primary spermatocytes, showing spermatogenic arrest at the primary spermatocyte level. Cytogenomic studies of blood revealed his karyotype which was 46,X,i(Y) (p11.32) (Yqter→Yp11.32::Yp11.32→Yqter).ish (DYZ3++, SRY++, SHOX-). array (PLCXD1→SHOX) ×1,(SRY →GOLGA2P3Y)×2, (DHRSX→ ASMT, SPRY3 →IL9R)×3. The rearrangement Y chromosome is de novo. This is the first case reported with a nonmosaic 46,X, i (Y) (p11.32), which will be useful to estimate the infertility phenotype-molecular karyotype correlation. Haploinsufficiency of short stature homeobox-containing gene is primarily responsible for the short stature. Aberrations in pseudoautosomal region 1 on the rearranged Y chromosome may result in the deficiency of X-Y pairing or recombination, ultimately lead to the spermatogenic failure.

Comparison of the semen analysis results obtained from two branded computer-aided sperm analysis systems.

The study evaluated the comparability of two branded computer-aided sperm analysis (CASA) systems commonly used in andrology laboratories in China. The same semen sample was analysed using two branded CASA systems (WLJY-9000 and CFT-9200) by one well-trained technician. Results of semen analysis obtained from two branded CASA systems were then compared. The accuracy of counting results of CASA systems was evaluated using latex bead solutions with known concentrations of (35 ± 5) × 106 ml⁻¹ and (18 ± 2.5) × 106 ml⁻¹. There were significant differences in all parameters (P < 0.01) except for LIN and WOB. The counting results of CFT-9200 were close to the standard solutions [(38.86 ± 3.79) × 106 ml⁻¹ and (19.03 ± 1.99) × 106 ml⁻¹], while those of WLJY-9000 were underestimated [(28.53 ± 2.06) × 106 ml⁻¹ and (14.62 ± 0.95) × 106 ml⁻¹]. But the coefficient of variation of WLJY-9000 was lower than that of CFT-9200 (7.22%, 6.50% vs. 9.82%, 10.46%). It is concluded that factors such as parameter settings and evaluation algorithms could significantly affect the results obtained from these two branded CASA systems. Great attention should also be paid to the quality control in semen analysis with CASA.

Effects of exposure to organic solvents on menstrual cycle length.

To investigate the association between organic solvent exposure and menstrual disturbance, we conducted a cross-sectional study among 1408 petrochemical workers in China. Based on an industrial hygiene evaluation, we classified the workshops according to the presence or absence of organic solvents (benzene, styrene, toluene, or xylene). We used logistic regression to estimate odds ratios and 95% confidence intervals for prolonged menstrual cycle length (oligomenorrhea: average cycle length > 35 days during the previous year) associated with the exposure. After adjustment for confounders, each additional year of work in an exposed workshop was associated with a 7% increase in oligomenorrhea (odds ratio, 1.07; 95% confidence interval, 1.00 to 1.14). Compared with no exposure, 3 or more years of exposure was associated with a 53% increase in oligomenorrhea (odds ratio, 1.53; 95% confidence interval, 1.00 to 2.34). We concluded that exposure to organic solvents is associated with a trend toward increased frequency of oligomenorrhea.

Collecting urine samples from young children using cotton gauze for pesticide studies.

To estimate pesticide exposure, urine samples are often needed to analyze pesticide metabolites. However, this is difficult for children wearing diapers because simple and feasible techniques suitable for field collection are not available. The objectives of this study were to test the validity of using cotton gauze pad as a medium for collecting urine samples from young children and to examine the stability of the recoveries for creatinine and pesticide metabolites over 24 h. Urine spiked with a pesticide and four metabolites, 2,4-dichlorophenoxyacetic acid (which is mainly eliminated from urine unchanged), 3-phenoxybenzoic acid (metabolite for synthetic pyrethroids), atrazine mercapturate (metabolite for atrazine), malathion dicarboxylic acid (metabolite for malathion), and 2-isopropyl-4-methyl-6-hydroxypyrimidine (metabolite for diazinon) was added to the gauze pads and kept in jars at 37 degrees C in a water bath. Urine was expressed from the gauze pads immediately and after 1, 2, 4, 8, and 24 h, then analyzed. The recoveries, calculated as the percentage of concentration in expressed urine divided by that of the control urine sample, were within a range of 70-130%. The metabolite and creatinine concentrations did not change with time in either expressed urine samples or controls. The results suggest that cotton gauze pad is a promising candidate for collecting urine samples from young children wearing diapers for studies in which these five urinary pesticide metabolites are to be analyzed.