Y chromosome microdeletion screening using a new molecular diagnostic method in 1030 Japanese males with infertility.

In conclusion, our study showed that the frequency of Y chromosome microdeletion in male patients in Japan was similar to that reported in patients from other countries, and SRR was higher in patients with AZFc deletion. PMID: 31603142 [PubMed - as supplied by publisher]
Source: Asian Journal of Andrology - Category: Urology & Nephrology Authors: Tags: Asian J Androl Source Type: research

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Genetic analysis is a critical component in the male infertility workup. For male infertility due to oligo/azoospermia, standard guidelines recommend karyotype and Y-chromosome microdeletion analyses. A karyotype is used to identify structural and numerical chromosome abnormalities, while Y-chromosome microdeletions are commonly evaluated by multiplex PCR analysis due to their submicroscopic size. Since these assays often require different vacutainer tubes to be sent to different laboratories, ordering is prone to errors.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Source Type: research
ConclusionGenetic testing (karyotyping and so on) played a key role in the diagnosis of our patient with long-term primary infertility secondary to 48,XXYY syndrome, and should play a vital role in all cases of long-term infertility, especially when presentation is accompanied by endocrine, skeletal, or morphological symptoms, signifying an underlying genetic factor.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
This study aimed to determine the frequency and patterns of Y chromosome microdeletions in azoospermia factor (AZF) of Iraqi infertile males. Here, 90 azoospermic infertile males as a study group and 95 normal fertile males as control group were investigated for the microdeletion of AZF loci using numerous sequence-tagged sites. Of these 90 infertile male patients, 43 (47.8%) demonstrated Y chromosome microdeletions, in which AZFb region was the most deleted section inazoospermia patients (33.3%) followed by deletions in the AZFc region (23%), while there were no microdeletion in the AZFa region. The largest microdeletion ...
Source: Journal of Genetics - Category: Genetics & Stem Cells Authors: Tags: J Genet 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 Infertility is one of the major health-threatening problems in communities which may lead to psychological problems among couples. Y chromosome abnormalities and microdeletions have recently been considered as one of the male infertility factors. The aim of this study was to evaluate different chromosomal disorders and azoospermia factor b (AZFb), AZFc and AZFd microdeletions in idiopathic non-obstructive oligo or azoospermia infertile men. One hundred infertile (78 azoospermia and 22 oligospermia) and 100 fertile men were included in this study. Luteinizing hormone (LH) and follicle stimulating hormone (...
Source: Systems Biology in Reproductive Medicine - Category: Reproduction Medicine Authors: Tags: Syst Biol Reprod Med Source Type: research
Conclusion: Men with AZF microdeletions can achieve the delivery of healthy children using ICSI. In this series, it produced good implantation rate and obstetric and perinatal outcomes.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Trial/Experimental Study Source Type: research
Abstract The aim of this study was to establish the prevalence of chromosomal abnormalities and microdeletions on the Y chromosome in Tunisian infertile men with severe oligozoospermia or non-obstructive azoospermia. In cases of azoospermia, we aimed also to correlate histological results after negative testicular sperm extraction with the type of Y chromosome microdeletion. 84 infertile patients and 52 controls were screened for karyotypic abnormalities using G-banding and Yq chromosome microdeletions using multiplex PCR. 7 infertile males (8.3%) carried chromosomal abnormalities and 8 (9.5%) presented Y chromoso...
Source: Annales de Biologie Clinique - Category: Biochemistry Authors: Tags: Ann Biol Clin (Paris) Source Type: research
Rationale: Small supernumerary marker chromosomes (sSMCs) can be usually discovered in the patients with mental retardation, infertile couples, and prenatal fetus. We aim to characterize the sSMC and explore the correlation between with sSMC and male infertility. Patient concerns: A 26-year-old Chinese male was referred for infertility consultation in our center after 1 year of regular unprotected coitus and no pregnancy. Diagnosis: Cytogenetic G-banding analysis initially described a mosaic karyotype 47,X,Yqh-,+mar[28]/46,X,Yqh-[22] for the proband, while his father showed a normal karyotype. The chromosome microa...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Rationale: Y;autosome translocations are associated with male infertility and azoospermia. Some carriers with a Y:22 translocation can produce offspring and transmit the translocation through generations without phenotypic repercussion. Hence, the clinical features of carriers with certain Y chromosome abnormalities remain uncertain. Patient concerns: An apparently healthy 33-year-old man, 175 cm tall and weighing 60 kg had a 6-month history of primary infertility. Diagnoses: The patient was diagnosed with oligoasthenozoospermia. A series of examinations have been performed to evaluate possible genetic causes o...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
In this study, we sought to determine the frequency and the character of different Y chromosome microdeletion types in infertile men in southwest of China. In total, 1274 patients with azoospermia and oligozoospermia were recruited in southwest of China and screening for Y chromosome microdeletions in AZF regions by multiplex polymerase chain reaction. The incidence of AZF microdeletions in southwest of China is 12.87%, which is higher than the national average. Further investigations unveiled that azoospermia factor c (AZFc) is the most frequent type of all the AZF microdeletions. Additionally, the number and also the q...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
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