Nuclear receptor subfamily 5 group A member 1 (NR5A1) encodes a nuclear receptor that regulates transcription of multiple genes involved in adrenal and gonadal development, steroidogenesis and the reproductive axis. Human mutations in NR5A1were initially found in two 46, XY female patients suffering from severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in NR5A1 may also contribute to the male infertility aetiology. We have analysed the coding sequence of NR5A1 in a cohort of 90 well-characterised idiopathic Iranian azoospermic infertile men versus 112 fertile men. Heterozygous NR5A1 mutations were found in 2 of 90 (2.2%) of cases. These two patients harboured missense mutations within the hinge region (p.P97T) and ligand-binding domain (p.E237K) of the NR5A1 protein. In silico analysis of the mutations showed that founded mutations could be detrimental. In conclusion, findings of the current and previous studies suggest that mutations in the NR5A1 gene are not common in azoospermia, and male infertility and inclusion of NR5A1 mutation screening in the diagnostic workup of male infertility may seem unnecessary.
: Genetic factors including Y chromosome microdeletions and androgen receptor (AR) gene mutations are responsible for male infertility. In the present study, genetic analysis was performed in an infertile Iranian male with azoospermia. Multiplex polymerase chain reaction with 6 sequence‐tagged site markers on the Yq11 chromosome revealed no microdeletions in the Y chromosome. Single‐strand conformational polymorphism and sequencing analyses detected a 1510C→A transversion in exon 1 of the AR gene, which resulted in a p.Pro504Thr substitution in the transactivation domain of the protein. The present study suggested that mutations in the AR gene might be responsible for some cases of idiopathic infertility, and therefore, molecular analyses may be useful for genetic counseling of candidates with regard to the use of assisted reproductive techniques.
The relationship of calcium, magnesium, zinc (Zn) and copper (Cu) concentrations in blood and seminal plasma on sperm parameters of spinal cord-injured (SCI) men and of normal controls was determined. The study included 93 SCI men and 145 neurologically intact men. Colorimetric and flame atomic absorption spectrophotometers were used. Seminal Zc and Cu had a relationship with sperm motility in SCI men.
To investigate the relation of luteinizing hormone (LH), follicle-stimulating hormone (FSH) and Testosterone serum levels with partial deletions in the AZFc region in Iranian oligozoospermia males. Material and methods: thirty infertile oligozoospermia and 52 Iranian fertile men included. The hormonal assays were measured by the Radioimmunoassay (RIA). Multiplex polymerase chain reaction (M-PCR) using eight sequence-tagged site (STS) markers were measured on the Yq11 chromosome. Results: The mean of FSH and LH levels in all oligozoospermia males were higher than fertile men (p < 0.001) and testosterone was lower significantly (p < 0.001). Five patients showed partial deletions in AZFc region (four had gr/gr and one had b2/b3 deletions). Six fertile men showed partial deletions (five gr/gr and one b2/b3) with higher level of FSH, LH in their group (p < 0.05). Conclusion: According to high incidence of partial deletions in the AZFc region among Iranian oligozoospermia males, hormonal assay and molecular screening should be advised before considering for ART treatments.
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