Pericentric inversion in chromosome 1 and male infertility.

Pericentric inversion in chromosome 1 was thought to cause male infertility through spermatogenic impairment, regardless of the breakpoint position. However, carriers of pericentric inversion in chromosome 1 have been reported with normal fertility and familial transmission. Here, we report two cases of pericentric inversion in chromosome 1. One case was detected in utero via amniocentesis, and the other case was detected after the wife of the carrier experienced two spontaneous abortions within 5 years of marriage. Here, the effect of the breakpoint position of the inversion in chromosome 1 on male infertility is examined and compared with the published cases. The association between the breakpoint of pericentric inversion in chromosome 1 and spermatogenesis is also discussed. Overall, the results suggest that the breakpoint position deserves attention from physicians in genetic counseling as inversion carriers can produce offspring.

SRSF6 regulates alternative splicing of genes involved in DNA damage response and DNA repair in HeLa cells.

Alternative splicing (AS) occurs in nearly all human genes and abnormal AS has a close association with cancer. Serine and arginine­rich splicing factor 6 (SRSF6), a canonical member of the serine/arginine­rich protein family, has been characterized as an important regulator of AS. However, the role of SRSF6 in regulating AS in cancers has remained to be fully elucidated. In the present study, the median expression of SRSF6 in tumors was determined to be higher compared with that in matched normal tissues in 13 out of 16 cancer types from The Cancer Genome Atlas. To investigate the biological effects of SRSF6 overexpression, an SRSF6­overexpression model of HeLa cells was constructed and it was revealed that SRSF6 overexpression resulted in significantly higher apoptosis and lower proliferation compared to control cells. Transcriptome analysis indicated that overexpression of SRSF6 in cancer cells induced large­scale changes in transcriptional expression levels and AS. Two groups of cervical cancer tumor samples in which SRSF6 was differentially expressed were then selected to analyze potential SRSF6­regulated AS. It was determined that the pattern of SRSF6­regulated AS in clinical samples was similar to that in cancer cells and AS genes were enriched in DNA damage response (DDR) pathways, including DNA repair and double­strand break repair via homologous recombination. Furthermore, AS events regulated by SRSF6 were validated using reverse transcription­quantitative PCR. The present results highlighted that SRSF6 is able to trigger the activation of DDR pathways via regulation of AS to influence cancer progression. These results markedly expand the current understanding of the mechanisms underlying SRSF6­mediated gene regulation and suggest the potential use of SRSF6 as a therapeutic target in cancer.

Expectant management and live birth outcomes for male balanced-translocation carriers: Two case reports and a literature review.

RATIONALE: Couples with male balanced-translocation carriers may experience recurrent pregnancy loss (RPL). Although the expectant management of RPL has developed over many years, genetic counseling for RPL couples with male balanced-translocation carriers remains challenging. Here, we describe the expectant management of 2 male carriers of balanced translocations. PATIENT CONCERNS: A 32-year-old and a 28-year-old man presented at the clinic with diagnoses of infertility following spontaneous abortions by their wives. DIAGNOSIS: Both patients had normal semen diagnosed by routine semen analysis and underwent cytogenetic diagnoses. INTERVENTIONS: Following genetic counseling and informed consent, both couples voluntarily chose expectant management with natural conception. OUTCOMES: One couple experienced 2 natural pregnancies, the first of which ended in spontaneous abortion and the second produced a phenotypically normal infant. The other couple's first pregnancy resulted in a fetus with a balanced translocation confirmed by amniocentesis and cytogenetic analysis. LESSONS: Expectant management with natural conception may be an alternative to genetic counseling in male balanced-translocation carriers with RPL, especially those who are reluctant to undergo preimplantation diagnosis.

Chromosome 1q21 translocation and spermatogenesis failure: Two case reports and review of the literature.

RATIONALE: For the carriers of chromosome reciprocal translocation, the reason why some are fertile and others are infertile remains unclear. Here, we describe 2 patients who are carriers of chromosome 1q21 translocation with azoospermia. PATIENT CONCERNS: A 29-year-old male and a 33-year-old male presented at the clinic with a diagnosis of infertility. DIAGNOSIS: Both patients with azoospermia were diagnosed with Routine semen analysis, cytogenetic diagnosis and detection of serum reproductive hormones. The karyotype results of 2 patients were 46,XY,t(1;17)(q21;q23) and 46,XY,t(1;10)(q21;p12), respectively. INTERVENTIONS: After genetic counseling and informed consent, 1 patient (Case 2) chose microsopic testicular sperm extraction (micro-TESE). OUTCOMES: After micro-TESE, no sperm was found for the patient. Finally, both patients chose clinical treatment through artificial insemination with donor sperm. LESSONS: These outcomes suggest that breakpoint at 1q21 should be paid attention by physician in genetic counseling, may harbor some genes associated with spermatogenesis, and deserves further be studied on the function of related genes.

Clinical, demographic and psychological characteristics of infertile male smokers in Northeast China.

OBJECTIVES: To investigate clinical, demographic and psychological characteristics of infertile male smokers in northeast China. METHODS: Serum and semen samples were collected from infertile men. Semen analysis was performed according to conventional procedures. Serum follicle-stimulating hormone, luteinizing hormone and testosterone levels were quantified. Psychological anxiety and depression were evaluated by the self-rating anxiety scale (SAS) and self-rating depression scale (SDS), respectively. RESULTS: Both SDS and SAS scores were significantly higher in smokers (n = 704) than in nonsmokers (n = 372); in addition, sperm viability and motility were significantly lower in smokers than in nonsmokers. Spearman's correlation coefficient analysis revealed significant positive correlations between duration of smoking and SDS and SAS scores, and between cigarettes smoked per day and SDS and SAS scores. CONCLUSIONS: Cigarette smoking has a negative effect on sperm viability and motility, and is associated with increased SDS and SAS scores.