Genetic Screening for Chromosomal Abnormalities and Y Chromosome Microdeletions in 846 Infertile Korean Men

BACKGROUND: Chromosomal abnormalities are confirmed as one of the frequent causes of male infertility. The microdeletion of the azoospermia factor (AZF) region in the Y chromosome was discovered as another frequent genetic cause associated with male infertility. The aim of this study was to evaluate the frequency and type of chromosomal abnormalities and Y chromosome microdeletions in Korean infertile men. METHODS: A total of 846 infertile men with azoospermia and severe oligozoospermia were included for genetic screening. Cytogenetic analyses using G-banding and screening for Y chromosome microdeletions by multiplex PCR for AZF genes were performed. RESULTS: Chromosomal abnormalities were detected in 112 infertile men (13.2%). Of these, Klinefelter's syndrome was the most common (55.4%, 62/112), followed by balanced translocation including translocation between sex chromosome and autosome (14.3%), Yq deletion (13.4%), X/XY mosaicism with Yq deletion (12.5%), and XX male (4.5%). The overall prevalence of Y chromosome microdeletions was 9.2% (78/846). Most microdeletions were in the AZFc region (51.3%) with a low incidence in AZFa (7.7 %) and AZFb (6.4 %). Combined deletions involving the AZFbc and AZFabc regions were detected in 26.9 % and 7.7 % of men, respectively. Among the infertile men with Y chromosome microdeletions, the incidence of chromosomal abnormality was 25.6% (20/78). CONCLUSIONS: There was a high incidence (20.1%) of chromosomal abnormalities and Y chromosome microdeletions in Korean infertile men. These findings strongly suggest that genetic screening for chromosomal abnormalities and Y chromosome microdeletions should be performed, and genetic counseling should be provided before starting assisted reproductive techniques.

Functions of PIWI proteins in spermatogenesis / 대한생식의학회지

Recently, a significant understanding of the molecular mechanisms regulating spermatogenesis has been achieved utilizing small RNA molecules (small RNAs), including small interfering RNAs (siRNAs), microRNAs (miRNAs), and Piwi-interacting RNAs (piRNAs) which emerged as important regulators of gene expression at the post-transcriptional or translation level. piRNAs are only present in pachytene spermatocytes and round spermatids, whereas miRNAs are expressed abundantly in male germ cells throughout spermatogenesis. This review is aimed at providing a glimpse of piRNAs and their interacting family proteins such as PIWIL1, PIWIL2, and PIWIL4 in spermatogenesis.

Effects of an alpha-blocker and Terpene Mixture for Pain Control and Spontaneous Expulsion of Ureter Stone / 대한비뇨기과학회지

PURPOSE: It was known that alpha-1 receptors are present in ureteral smooth muscle. We aimed to reveal the effect of an alpha-blocker (tamsulosin) and terpene mixture (Rowatinex(R)) on the expulsion of ureter stone (size less than 1cm), as well as its affect on the relief of pain. Material and Methods: The patients were classified into group A in which the size of the ureter stone less than 4mm (144 subjects) and group B in which the size of stone was between 4mm and 10mm (48 patients). Each study group was also further divided into 3 sub-groups: group 1 with analgesics only, group 2 with Rowatinex(R) as well as analgesics, and group 3 with 0.4mg of tamsulosin as well as analgesics. RESULTS: It was shown that the expulsion rates of ureter stone in sub-group 1 of group A, at the end of first week, was statistically lower (p<0.05) compared to that of sub-group 2 with Rowatinex(R). It was also shown that compared to sub-group 1, the expulsion rate of ureter stone at the end of first week in sub-group 3 was statistically significant (p<0.05). Compared to the consumed amount of analgesics in group A, it was revealed that sub-group 2 and sub-group 3 used statistically fewer ampules of than sub-group 1 (p<0.05). CONCLUSIONS: Our study clearly showed that both alpha-blocker and Rowatinex(R) are effective means of controlling colicky pain and they speed up excretion of ureter stones that are less than 4mm in size, at the end of first week. Therefore, we conclude that an alpha-blocker and Rowatinex(R) should be considered as an adjuvant regimen and this is beneficial for patients with ureter stone less than 4mm in size.

Incidence of Concomitant Procedures for Pelvic Organ Prolapse and Reconstruction in Women Who Undergo Sling Operation for Stress Urinary Incontinence

PURPOSE: To determine the incidence of concomitant procedures performed for pelvic organ prolapse or vaginal reconstruction at the time of surgery for stress urinary incontinence in contemporary urologic practice. MATERIALS AND METHODS: We retrospectively examined all concomitant procedures for pelvic organ prolapse or vaginal reconstruction in 279 women who had underwent sling operation for stress urinary incontinence at our institution. The subjects presented with stress urinary incontinence underwent history taking, physical examination and urologic investigations such as standing cystourethrography and urodynamic study including Valsalva leak point pressure. RESULTS: Of 279 women, 64(22.9%) had at least one concomitant procedure performed for pelvic organ prolapse or vaginal reconstruction, including 43(15.4%) cystocele repairs, 24(8.6%) rectocele repairs, 6(2.2%) cystocele and rectocele repairs concurrently, 2(0.7%) vaginal hysterectomy and 1(0.4%) urethral diverticulectomy. CONCLUSION: We found that women who undergo surgery for stress urinary incontinence had a high incidence(22.2%) of associated pelvic organ prolapse requiring surgical repair. These additional maneuvers contributed to the overall success of surgery and should not be overlooked.