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.

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.

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.