Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism.

Chimerism, a rare human disorder, is assumed to be the result of an amalgamation of two separate zygotes in a single embryo. Studies have shown that the phenotypic spectrum of chimerism is variable and there is no definite genotype-phenotype correlation in patients with chimerism, therefore a majority of cases might remain undiagnosed. This study aims to investigate the possible mechanism of the chimerism in a 46,XX/46,XY infertile and phenotypically normal male, with 46,XX blood karyotype and normal spermatogenesis. We have used Interphase-FISH analysis to study the CEPX and CEPY regions on buccal and urine samples as well as molecular analysis of polymorphic short tandem repeats (STR) markers from 34 loci in order to discover the origin of 46,XX/46,XY. Analysis of X-linked and autosomal STR markers on blood, buccal tissue, urine, fibroblast and testis biopsy samples of the proband along with the blood sample of the patient's parents and siblings, showed divergent karyotypes in different tissues and tetragametic chimerism was diagnosed.

Evaluation of intracellular anion superoxide level, heat shock protein A2 and protamine positive spermatozoa percentages in teratoasthenozoospermia.

BACKGROUND: Teratoasthenozoospermia (TA) is a severe form of male infertility with no clear etiology. OBJECTIVE: To compare the level of intracellular anion superoxide (O2-), heat shock protein A2 (HSPA2) and protamine deficiencies in ejaculated spermatozoa between teratoasthenozoospermic and normozoospermic men. MATERIALS AND METHODS: In this case- control study, semen samples of 20 infertile men, with TA (with normal morphology lower than 4%_ and total motility lower than 40% ) as the case group and 20 normozoospermic fertile men as the control group were evaluated for intracellular O2- and HSPA2 by flow cytometry and protamine deficiency by Chromomycin A3 (CMA3) test. RESULTS: The rate of CMA3+ spermatozoa in the case group was higher than controls (p=0.001). The percentages of HSPA2+ spermatozoa in the cases were significantly lower than controls (p=0.001). Also, intracellular O2- levels in the case group were significantly higher than controls (p=0.001) and had positive correlations with sperm apoptosis (r=0.79, p=0.01) and CMA3 positive sperm (r=0.76, p=0.01), but negative correlations with normal morphology (r=-0.81, p=0.01) and motility (r=-0.81, p=0.01). There was no significant correlation between intracellular O2- and HSPA2 in the case group (r=0.041, p=0.79). CONCLUSION: We suggest that the increase in intracellular O2-, decrease in spermatozoa HSPA2+, and high percentages of spermatozoa with immature chromatin might be considered as etiologies of infertility in TA patients.

A fresh look at the male-specific region of the human Y chromosome.

The Chromosome-centric Human Proteome Project (C-HPP) aims to systematically map the entire human proteome with the intent to enhance our understanding of human biology at the cellular level. This project attempts simultaneously to establish a sound basis for the development of diagnostic, prognostic, therapeutic, and preventive medical applications. In Iran, current efforts focus on mapping the proteome of the human Y chromosome. The male-specific region of the Y chromosome (MSY) is unique in many aspects and comprises 95% of the chromosome's length. The MSY continually retains its haploid state and is full of repeated sequences. It is responsible for important biological roles such as sex determination and male fertility. Here, we present the most recent update of MSY protein-encoding genes and their association with various traits and diseases including sex determination and reversal, spermatogenesis and male infertility, cancers such as prostate cancers, sex-specific effects on the brain and behavior, and graft-versus-host disease. We also present information available from RNA sequencing, protein-protein interaction, post-translational modification of MSY protein-coding genes and their implications in biological systems. An overview of Human Y chromosome Proteome Project is presented and a systematic approach is suggested to ensure that at least one of each predicted protein-coding gene's major representative proteins will be characterized in the context of its major anatomical sites of expression, its abundance, and its functional relevance in a biological and/or medical context. There are many technical and biological issues that will need to be overcome in order to accomplish the full scale mapping.

Transabdominal ultrasound measurement of pelvic floor muscle mobility in men with and without chronic prostatitis/chronic pelvic pain syndrome.

OBJECTIVE: To investigate the pelvic floor muscle motion in men with and without chronic prostatitic/chronic pelvic pain syndrome using transabdominal ultrasound. No study has directly evaluated pelvic floor muscle mobility in individuals with and without chronic pelvic pain syndrome. METHODS: A convenience sample of 40 males participated in the study. Subjects were categorized into 2 groups: those with chronic pelvic pain syndrome (n = 20) and those without chronic pelvic pain syndrome (n = 20). The amount of bladder base movement on ultrasound (normalized to body mass index) was measured in all subjects and considered as an indicator of pelvic floor muscle mobility. RESULTS: Statistical analysis (independent t-test) revealed significant difference in transabdominal ultrasound measurements for pelvic floor muscle function between the 2 groups (P = .03, 95% CI -0.26 to -0.01). CONCLUSION: The results of this study indicate that pelvic floor muscle mobility differs in the 2 groups.

Bladder neck preservation during radical retropubic prostatectomy and postoperative urinary continence.

INTRODUCTION: Bladder neck-sparing modification of radical retropubic prostatectomy has been reported to lower the risk of urinary incontinence after prostatectomy. We reviewed the outcomes in men with prostate cancer who had undergone prostatectomy with either bladder neck preservation or bladder neck reconstruction. MATERIALS AND METHODS: In this retrospective study, a total of 103 patients who had undergone radical retropubic prostatectomy were assessed. The patients were divided into two groups of bladder neck preservation (51 patients) and bladder neck reconstruction (52 patients). We compared frequency of biochemical failure, bladder neck stricture, and urinary incontinence between these two groups. Biochemical failure was defined as a serum prostate-specific antigen level higher than 0.2 ng/mL and its rising trend in at least 2 postoperative subsequent measurements. Continence was defined as no need to use sanitary pads or diapers. RESULTS: The two groups were comparable in terms of age, serum prostate-specific antigen level, Gleason score, and prostate volume. After a mean follow-up period of 32.5 months, all patients with bladder neck preservation and 46 (88.5%) with bladder neck reconstruction were continent (P = .03). There were no significant differences in the frequency of biochemical failure and bladder neck stricture that required dilation between the two groups of patients. CONCLUSION: Bladder neck preservation during radical retropubic prostatectomy may improve long-term results of urinary continence and be effective in eradicating prostate cancer without increasing recurrence rate.

Clinical variability in acro-cardio-facial-syndrome.

We report on a 25-year-old man with ectrodactyly and genital anomalies whose parents are first cousins. Their second child died 4 days after birth with severe limb defects and imperforate anus. Our patient may represent clinical variability of the acro-cardio-facial syndrome.