Jaganathan Suganya1, Smita B Kujur2, Kamala Selvaraj3, Muthiah S Suruli4, Geetha Haripriya5, Chandra R Samuel6. 1. Research Scholar, Department of Genetics, Dr. ALMPGIBMS, University of Madras , Taramani, Chennai, Tamil Nadu, India . 2. Project Fellow, Department of Genetics, Dr. ALMPGIBMS, University of Madras , Taramani, Chennai, Tamil Nadu, India . 3. Obstetrician and Gynecologist, G.G Hospital , 6-E, Thirumoorthy Nagar, Nungambakkam High Road, Nungambakkam, Chennai, Tamil Nadu, India . 4. Director & Embryologist, Kanmani Fertility Centre , 43, South Usman Road, T Nagar, Chennai, Tamil Nadu, India . 5. Obstetrician & Gynaecologist, Prashanth Fertility Research Centre , 77, Harrington Road, Chetpet, Chennai, Tamil Nadu, India . 6. Associate Professor, Department of Genetics, Dr.ALMPGIBMS, University of Madras , Taramani, Chennai, Tamil Nadu, India .
Abstract
BACKGROUND AND OBJECTIVE: Male infertility has been associated with aneuploidies and structural chromosomal abnormalities, Yq microdeletions and specific gene mutations and/or polymorphisms. Besides genetic factors, any block in sperm delivery, endocrine disorders, testicular tumours, infectious diseases, medications, lifestyle factors and environmental toxins can also play a causative role. This study aimed to determine the constitutional karyotype in infertile males having normal female partners in a south Indian population. MATERIALS AND METHODS: A total of 180 men with a complaint of primary infertility ranging from 1 to 25 years were screened for chromosomal abnormalities through conventional analysis of GTG-banded metaphases from cultured lymphocytes. RESULTS: Four individuals were diagnosed to have Klinefelter syndrome. Two cases exhibited reciprocal translocations and one showed a maternally inherited insertion. Polymorphisms were seen in sixty-seven patients (37.2%). CONCLUSION: The occurrence of chromosomal abnormalities in 4.6% and variants involving the heterochromatic regions of Y, chromosome 9 and the acrocentric chromosomes in 38.2% of the infertile men with an abnormal seminogram strongly reiterates the inclusion of routine cytogenetic testing and counselling in the diagnostic work-up prior to the use of assisted reproduction technologies.
BACKGROUND AND OBJECTIVE:Male infertility has been associated with aneuploidies and structural chromosomal abnormalities, Yq microdeletions and specific gene mutations and/or polymorphisms. Besides genetic factors, any block in sperm delivery, endocrine disorders, testicular tumours, infectious diseases, medications, lifestyle factors and environmental toxins can also play a causative role. This study aimed to determine the constitutional karyotype in infertile males having normal female partners in a south Indian population. MATERIALS AND METHODS: A total of 180 men with a complaint of primary infertility ranging from 1 to 25 years were screened for chromosomal abnormalities through conventional analysis of GTG-banded metaphases from cultured lymphocytes. RESULTS: Four individuals were diagnosed to have Klinefelter syndrome. Two cases exhibited reciprocal translocations and one showed a maternally inherited insertion. Polymorphisms were seen in sixty-seven patients (37.2%). CONCLUSION: The occurrence of chromosomal abnormalities in 4.6% and variants involving the heterochromatic regions of Y, chromosome 9 and the acrocentric chromosomes in 38.2% of the infertilemen with an abnormal seminogram strongly reiterates the inclusion of routine cytogenetic testing and counselling in the diagnostic work-up prior to the use of assisted reproduction technologies.
Authors: Ramadan A Saleh; Ashok Agarwal; Rakesh K Sharma; Tamer M Said; Suresh C Sikka; Anthony J Thomas Journal: Fertil Steril Date: 2003-12 Impact factor: 7.329
Authors: Ramadan A Saleh; Ashok Agarwal; David R Nelson; Essam A Nada; Mohammed H El-Tonsy; Juan G Alvarez; Anthony J Thomas; Rakesh K Sharma Journal: Fertil Steril Date: 2002-08 Impact factor: 7.329