Predictive factors for sperm retrieval from males with azoospermia who are eligible for testicular sperm extraction (TESE)

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Source: Systems Biology in Reproductive Medicine - Category: Sexual Medicine Authors: Source Type: research

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Condition:   Non-obstructive Azoospermia Interventions:   Drug: Gabapentin;   Drug: Placebo Sponsor:   Weill Medical College of Cornell University Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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
Condition:   Non-obstructive Azoospermia Interventions:   Drug: Gabapentin;   Drug: Placebo Sponsor:   Weill Medical College of Cornell University Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
AbstractAzoospermia is a condition defined as the absence of spermatozoa in the ejaculate, but the testicular phenotype of men with azoospermia may be very variable, ranging from full spermatogenesis, through arrested maturation of germ cells at different stages, to completely degenerated tissue with ghost tubules. Hence, information regarding the cell-type-specific expression patterns is needed to prioritise potential pathogenic variants that contribute to the pathogenesis of azoospermia. Thanks to technological advances within next-generation sequencing, it is now possible to obtain detailed cell-type-specific expression...
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
Source: Dr.Malpani's Blog - Category: Reproduction Medicine Source Type: blogs
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
Abstract Deleted in azoospermia-like (DAZL) is essential for mammalian spermatogenesis as it regulates proliferation, development, maturation and functional maintenance of male germ cells. Its expression and regulation vary with different species or in the same animal at different developmental stages, and despite its importance, very little is known about its roles in sheep, especially Tibetan sheep. To investigate the expression patterns and regulatory roles of DZAL in Tibetan sheep testis, testicular tissue was isolated from sheep at three crucial development stages: 3 months old, 1 year old and 3 years old. Us...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
ConclusionSYCE1 gene encodes synaptonemal complex (SC) central element 1 protein which contributes to the formation of the synaptonemal complex during meiosis. Syce1 null male and female mice have been shown to be infertile. There have only been two reports on  the effects ofSYCE1 mutations in humans; it was shown as the  cause of primary ovarian failure (POI) in one and as the cause of nonobstructive azoospermia (NOA) in another. We suggest that the mutation 375-2A >  G, which affects the acceptor splice site within intron 6 ofSYCE1, is the likely cause of azoospermia and subsequent inferti...
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
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