Ultrasound evaluation of seminiferous tubules: a promising prognostic tool for men with nonobstructive azoospermia undergoing microsurgical testicular sperm extraction

Azoospermia, or the absence of spermatozoa in the semen, is present in up to 10% of men presenting with infertility. The majority of these men will have nonobstructive azoospermia (NOA), or impaired production of sperm. When present, testicular sperm can be used with in  vitro fertilization and intracytoplasmic sperm injection to achieve fertility. One of the most effective treatment options to obtain testicular sperm is microsurgical testicular sperm extraction (micro-TESE). Reported rates of successful sperm retrieval with micro-TESE range from 40% to 60%.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Reflections Source Type: research

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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
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 ka...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep 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
ConclusionsThe rate of successful TESE and the ICSI outcome in cancer survivors with NOA and RE/FOE is the same as non-cancer azoospermic patients. Female partner age (older than 40  years) was associated with a significant reduction in live birth rates after TESE-ICSI procedures.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
In this study, we investigated the relevance of Y chromosome deletions, Y-linked CNVs and variable phenotypes in infertile men. To clarify the relationship between phenotypic heterogeneity and Y chromosome deletion in male infertility, we performed chromosomal microarray analysis (CMA) capable of analyzing thousands of loci simultaneously to investigate Y-linked copy number variations (CNVs). Firstly, we reviewed the results of Y chromosome screening in 554 infertile patients and then compared the results of CMA to routine Y chromosome screening in 29 patients with Y chromosomal microdeletions. Then, the Y-linked CNVs asso...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
AbstractIt is estimated that one in 100 men have azoospermia, the complete lack of sperm in the ejaculate. Currently,  ~ 20% of azoospermia cases remain idiopathic. Non-obstructive azoospermia (NOA) is mostly explained by congenital factors leading to spermatogenic failure, such as chromosome abnormalities. The knowledge of the monogenic causes of NOA is very limited. High genetic heterogeneity due to the compl exity of spermatogenesis and testicular function, lack of non-consanguineous familial cases and confirmatory studies challenge the field. The reported monogenic defects cause syndromic NOA phenotypes p...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
AbstractSevere asthenozoospermia is a common cause of male infertility. Recent studies have revealed thatSPEF2 mutations lead to multiple morphological abnormalities of the sperm flagella (MMAF) without primary ciliary dyskinesia (PCD) symptoms in males, but PCD phenotype was also found in one female individual. Therefore, whether there is a phenotypic continuum ranging from infertile patients with PCD to MMAF patients with no or low noise PCD manifestations remains elusive. Here, we performed whole-exome sequencing in 47 patients with severe asthenozoospermia from 45 unrelated Chinese families. We identified four novel bi...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
We present a case report of a 25-year-old obese man complaining of primary infertility for 2 years. After a thorough examination and investigation were done, he had congenital unilateral absence of vas deferens with ipsilateral renal agenesis and a palpable vas deferens in the contralateral side with testicular atrophy. Semen analysis showed low semen volume (0.5 mL) with azoospermia. Hence, a scrotal exploration and a crossover transseptal vasoepididymostomy to relocate the vas deferens were done. After 6 months, the sperm concentration reached 5 × 106/mL with good motility (40%) and volume (1.5 mL).
Source: Urology Annals - Category: Urology & Nephrology Authors: Source Type: research
AbstractNon-obstructive azoospermia accounts for 10 –15% of male infertility, resulting in 60% of all cases of azoospermia and affecting about 1% of the male population. About 30% of these cases are due to Y chromosome microdeletions, chromosome abnormalities, or hormonal disorders. Pathogenic variants in genes on the sex chromosomes have key roles in spermatogenic failure. The co-occurrence of azoospermia and congenital cataracts ranges between 1 in 165,000 and 1 in 500,000. Our 28-year-old patient with normal intelligence and abnormally shaped teeth presented with both disorders. A microarray revealed a microdeleti...
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
More News: Azoospermia | ICSI (Intracytoplasmic Sperm Injection) | Infertility | Reproduction Medicine | Ultrasound