Molecular cytogenetic characterization of an isodicentric  Yq and a neocentric isochromosome Yp in an azoospermic male.

Molecular cytogenetic characterization of an isodicentric Yq and a neocentric isochromosome Yp in an azoospermic male. Mol Med Rep. 2020 Feb;21(2):918-926 Authors: Jiang Y, Yue F, Wang R, Zhang H, Li L, Li L, Li S, Liu R Abstract Isodicentric Y chromosomes are considered one of the most common structural abnormalities of the Y chromosome. Neocentric marker chromosomes, with neocentromeres, have drawn increasing attention in recent years. The present study reported an azoospermic male with a neocentric isochromosome Yp, neo(Yp), and an isodicentric Yq, idic(Yq). The karyotype was analyzed using G‑banding, chromosome microarray analysis (CMA), and fluorescence in situ hybridization (FISH) with various detection probes, including sex‑determining region on the Y chromosome (SRY) and Y centromeric, applied at the same time. G‑banding initially revealed the karyotype 47,X,i(Y)(q10),+mar. CMA indicated the presence of an extra Y chromosome, seemingly equivalent to 47,XYY males. FISH delineated the existence of two centromeres on the idic(Yq). For the marker chromosome, two SRY signals were detected instead of the Y‑specific centromere signal, and a visual centromere was observed. This indicated the possible existence of a neocentromere in the marker chromosome, located in the connected region in Yp11.2 band. Finally, the patient's karyotype was established as 47,X,idic(Y)(p11.2), neo(Y)(pter→Yp1...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research

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AbstractPurposeTo develop and assess a novel custom next-generation sequencing (NGS) panel for male infertility genetic diagnosis.MethodsA total of 241 subjects with diagnosis of idiopathic infertility ranging from azoospermia to normozoospermia were sequenced by a custom NGS panel includingAR,FSHB,FSHR,KLHL10,NR5A1,NANOS1,SEPT12,SYCP3,TEX11 genes. Variants with minor allele frequency
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
Purpose of review The review presents a clinical algorithm for the evaluation and treatment for adolescents with Klinefelter's syndrome who desire fertility preservation. Recent findings Sperm is present in the ejaculate in around 8% of men with Klinefelter's syndrome. Although most are severely oligospermic/azoospermic, 43–45% of men will have sperm found during a testicular sperm extraction, reaching up to 70% in adolescents. Summary Klinefelter's syndrome (47, XXY) causes hypogonadotophic hypogonadism and severe oligospermia/azoospermia rendering natural conception rare. During puberty, boys often require ...
Source: Current Opinion in Urology - Category: Urology & Nephrology Tags: GENDER MEDICINE, INFERTILITY AND ERECTILE FUNCTION: Edited by Ryan Flannigan and Ranjith Ramasamy Source Type: research
Purpose of review Several studies suggest a strong association between leptin, obesity, and infertility with respect to the hypothalamic–pituitary–gonadal (HPG) axis, androgen regulation, and sperm production, but the direct mechanistic association between these is still largely unexplored. This review focuses on understanding the association between leptin, obesity, and male infertility. Recent findings Obesity is linked to fertility dysfunction in both genders. Obesity in men may affect their fertility by impaired spermatogenesis, reduced testosterone levels, erectile dysfunction, and poor libido by puta...
Source: Current Opinion in Urology - Category: Urology & Nephrology Tags: GENDER MEDICINE, INFERTILITY AND ERECTILE FUNCTION: Edited by Ryan Flannigan and Ranjith Ramasamy Source Type: research
Discussion and conclusionTheFSHB c. ‐211G>T polymorphism does not affect SC numbers or SCWL, thereby in principle maintaining the spermatogenic potential. The previously observed clinical phenotype for theFSHB genotype might therefore be caused by a hypo ‐stimulated spermatogenesis and not due to a decreased SC number.
Source: Andrology - Category: Urology & Nephrology Authors: Tags: ORIGINAL ARTICLE Source Type: research
AbstractInfertility is a major health problem across the world. One of the main reasons for male infertility are defects in sperm. Semen analysis is the most common test utilized to evaluate male fertility and since it suffers from multiple drawbacks, reproduction scientists have tried to find new molecular markers for detecting sperm defects. MicroRNAs (miRNAs) are small molecules in cells which take part in regulating gene expression. Various studies have confirmed miRNAs to have a role in defining multiple sperm characteristics, including sperm count, motility, and morphology. In this paper, we have systematically revie...
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
Discussion and conclusion.TheFSHB c. ‐211G >  T polymorphism does not affect SC numbers or SCWL, thereby in principle maintaining the spermatogenic potential. The previously observed clinical phenotype for theFSHB genotype might therefore be caused by a hypo ‐stimulated spermatogenesis and not due to a decreased SC number.
Source: Andrology - Category: Urology & Nephrology Authors: Tags: ORIGINAL ARTICLE Source Type: research
Abstract Klinefelter syndrome (KS) is the most common chromosomal syndrome, causing infertility in men and leading to non-obstructive azoospermia. Previous studies on mosaicism have shown contradictory results on its correlation with both serum hormone levels and the presence of spermatozoa in the ejaculate of KS, KS-like, and non-KS-like infertile patients. So, the present study was designed to detect low-grade mosaicism in the peripheral blood lymphocytes and buccal mucosa cells of 14 KS and 8 KS-like patients by using fluorescence in situ hybridization (FISH) and to investigate its correlation with luteinizing ...
Source: Reproductive Biology - Category: Reproduction Medicine Authors: Tags: Reprod Biol Source Type: research
Male factor infertility is an important clinical problem whose most severe phenotype, severe oligospermia or azoospermia, has a variety of genetic causes. Some, like Klinefelter syndrome or cystic fibrosis, are well understood, but most are still unknown, and Y chromosome microdeletions only explain a fraction of the remaining cases. In consanguineous and nonconsanguineous families, whole exome sequencing (WES) has been successfully used to identify likely causal mutations in severe oligospermia (1, 2).
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Reflections Source Type: research
AbstractCongenital absence of the vas deferens (CAVD) may have various clinical presentations depending on whether it is bilateral (CBAVD) or unilateral (CUAVD), complete or partial, and associated or not with other abnormalities of the male urogenital tract. CBAVD is usually discovered in adult men either during the systematic assessment of cystic fibrosis or otherCFTR-related conditions, or during the exploration of isolated infertility with obstructive azoospermia. The prevalence of CAVDs in men is reported to be approximately 0.1%. However, this figure is probably underestimated, because unilateral forms of CAVD in asy...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
ConclusionOur findings demonstrated altered expression levels of MRE11 and RAD50 in human testes with MA and SCOS, and showed that these alterations might be associated with impaired spermatogenesis. These results offer valuable new perspectives into the molecular mechanisms of male infertility.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
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