Researchers identify gene responsible for some cases of male infertility

(Wiley) In about one-sixth of the cases of male infertility, men do not make any measurable levels of sperm, a condition called azoospermia. New research led by University of Pennsylvania scientists suggests that mutations in an X chromosome gene called TEX11 are responsible for about 1 percent of azoospermia cases.
Source: EurekAlert! - Medicine and Health - Category: Global & Universal Source Type: news

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Authors: Matschurat C, Rode K, Hollenbach J, Wolf K, Urhausen C, Beineke A, Günzel-Apel AR, Brehm R Abstract Impairment of blood-testis barrier integrity can be observed during inflammation, infection, trauma and experimental autoimmune orchitis, which is inducible in rodents. In the present study, an initially fertile two-year-old Beagle dog was presented with a decline in total sperm number resulting in azoospermia within five months, verified by twice-monthly semen analyses. The dog was clinically healthy with bilateral small testes and showed normal thyroid function. Bacterial cultures of semen were negati...
Source: Histology and Histopathology - Category: Cytology Tags: Histol Histopathol Source Type: research
AbstractBackgroundSurgical sperm retrieval, requiring local anesthetic injection, is the most frequent surgical procedure in male infertility. However, needle phobia is common and may contribute to negative experiences or refusal of procedures employing needle injection.ObjectivesThe aim of this study was to compare the acceptability, safety, and efficacy of needle ‐free jet anesthetic technique (MadaJet) with conventional needle injection for surgical sperm retrievals in patients with azoospermia.Materials and methodsThis single ‐blind randomized controlled trial (RCT) was included of 59 participants who underwent sur...
Source: Andrology - Category: Urology & Nephrology Authors: Tags: Original Article Source Type: research
CONCLUSION: Sex reversal syndrome is a genetic con- dition caused by DSD. Many factors can lead to DSD, but the accurate mechanism has not been completely discovered. between gonadal sexuality and chromosome sexuality, including 46,XX male and 46,XY female for the most part, but the rare type 45,XO male also can be found. Approximately 80% of males with 46,XX present' with normal pubic hair and. PMID: 30383953 [PubMed]
Source: Journal of Reproductive Medicine - Category: Reproduction Medicine Tags: J Reprod Med Source Type: research
Conclusion (s)In conclusion, AA genotype of 751A  >  C SNP inERCC2 correlated with a higher risk of male infertility and may contribute to an increased risk of azoospermia and male infertility in Indian men.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
In conclusion, the frequency of DSD in this study was 14%, consisting mainly of sex chromosome abnormalities but also 46,XX and 46,XY DSD. However, this figure may increase as further investigations are conducted in idiopathic cases with signs of primary testicular failure, which may present partial gonadal dysgenesis. PMID: 30372699 [PubMed - as supplied by publisher]
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - Category: Genetics & Stem Cells Authors: Tags: Sex Dev Source Type: research
In conclusion, the frequency of DSD in this study was 14%, consisting mainly of sex chromosome abnormalities but also 46,XX and 46,XY DSD. However, this figure may increase as further investigations are conducted in idiopathic cases with signs of primary testicular failure, which may present partial gonadal dysgenesis.Sex Dev
Source: Sexual Development - Category: Biology Source Type: research
Increased expression of SPATA33, during the first wave of spermatogenesis, indicates its possible association with the meiotic process. SPATA33 gene, may not impair spermatogenesis in NOA patients AbstractGenetic abnormalities have been considered a significant cause of male infertility. Increased expression of SPATA33 during the first wave of spermatogenesis indicates its possible association with the meiotic process. The aim of the current study was to investigate the genetic variations in theSPATA33 gene and its expression in patients with nonobstructive azoospermia (NOA). A total of 100 Iranian NOA men with idiopathic ...
Source: Molecular Reproduction and Development - Category: Reproduction Medicine Authors: Tags: RESEARCH ARTICLE Source Type: research
In conclusion, azoospermia in dromedary camels is mainly associated with spermatogenic defects and greater serum FSH concentrations. Seminal biomarkers, therefore, might be feasible indicators for identifying azoospermia in the male dromedary camels and the condition of non-obstructive azoospermia was seemingly prevalent in the male dromedary camels in the present study. PMID: 30340855 [PubMed - as supplied by publisher]
Source: Animal Reproduction Science - Category: Zoology Authors: Tags: Anim Reprod Sci Source Type: research
Contributors : C Park ; D W Seol ; H Yoo ; K Hong ; Y ChoiSeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Mus musculusMeiosis occurs specifically in germ cells to produce sperm and oocytes that are competent for sexual reproduction. Multiple factors are required for successful meiotic entry, progression, and termination. Trimethylation of histone H3 on lysine 4 (H3K4me3), a mark of active transcription, has been implicated in spermatogenesis by forming double strand breaks (DSBs). The role of H3K4me in transcriptional regulation during meiosis however, remains poorly understood. Her...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Mus musculus Source Type: research
The objective of this study is to determine whether azoospermia has any psychological effects on men, and investigate the potential effects of psychological mood on seminal, and plasma oxidative parametres. MATERIALS AND METHODS: Twenty-seven patients whose two consecutive semen analyses were reported as pellet -negative azoospermia constituted the azoospermic group, and 30 healthy individuals who applied to the infertility polyclinic with normal seminal parametres comprised the normozoospermic group. RESULTS: BECK Anxiety scores were statistically significant higher in the azoospermic group (P=0.009). When compa...
Source: Urology Journal - Category: Urology & Nephrology Authors: Tags: Urol J Source Type: research
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