RESUMO
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.
Assuntos
Azoospermia/genética , Mutação de Sentido Incorreto , Fator Esteroidogênico 1/genética , Adulto , Análise Mutacional de DNA , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
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.
Assuntos
Análise do Sêmen , Sêmen/química , Traumatismos da Medula Espinal/sangue , Traumatismos da Medula Espinal/metabolismo , Adulto , Cálcio/metabolismo , Cobre/metabolismo , Humanos , Magnésio/metabolismo , Masculino , Estudos Prospectivos , Motilidade dos Espermatozoides , Zinco/metabolismoRESUMO
Differences in articular cartilage thickness in the sacroiliac joint were investigated in different regions of the sacral and the iliac articular surfaces in the embalmed cadavers of five males and six females. The mean thickness of the sacral articular cartilage was greater than that of the iliac articular cartilage (P < 0.001) and the sacral articular cartilage of the female was thicker than that of the male (P < 0.02). Differences between thicknesses of the iliac articular cartilage in the male and female and in different regions of the sacral and iliac articular cartilages were found to be not significant.
