Rare association of multiple etiologies in a severe oligoasthenospermic male

We report a rare case of a 30 year old man diagnosed with severe oligoasthenospermia, where the infertile condition is traced back to a multiple etiologies. Routine semen analysis and sperm function tests followed by hormone analysis are carried out to diagnose the condition as well as the severity. The initial findings prompt us to perform Ultrasound scanning of testis and Trans Rectal Ultrasound Scanning [TRUS] to check the anatomical and functional status of the accessory reproductive organs. Semen analysis and sperm function tests provide an insight into the severity of the condition. The hormonal analysis, Ultrasound scanning of testis and TRUS of accessory reproductive glands confirms the association of hormonal imbalance, testis and accessory gland defects which results in the observed infertile condition with severe sperm defects. A thorough investigation of infertile subjects is essential for appropriate diagnosis and effective personalized treatment owing to the probability of multiple etiologies. Incomplete diagnosis can have adverse effects in treatment and Assisted Reproductive Techniques [ART]

Maternal grandmothers with advanced age reproduction are more likely to have Down syndrome grandchildren

Down syndrome [DS], trisomy 21, is the most common chromosomal syndrome that affects one in 600-800 live births. The advanced maternal age is the only well known risk factor to cause DS. Our study revealed that many young mothers produced DS children than advanced age mothers in India. A total of 150 suspected DS cases were investigated cytogenetically. Randomly selected 200 healthy families in South India were used as controls. Logistic regression was performed on case-control dataset which was generated by randomly selecting the child from each of the control families. Pedigree analyses indicated that the maternal grandmothers had advanced age during conception of their daughters who gave birth to DS child. Case-control status was used as dependent variable, whereas parental and grandparental age was used as covariates. Logistic regression was reported as odds ratios, univariate and multivariate. The age of maternal grandmother showed highly significant difference in odds ratio, indicating that the advanced age of maternal grandmother was the possible risk factor. Therefore, it is important to sort-out the effect of advanced age mothers vs grandmothers on increased frequency of DS reported in different populations