title: Microdeletion of Y chromosome as a cause of recurrent pregnancy loss.
abstract: BACKGROUND
  In majority of couples experiencing recurrent pregnancy loss (RPL), etiology is still unknown. Two genetic factors have been suggested to underlie miscarriage in a subset of patients, namely skewed X chromosome inactivation in females and Y chromosome microdeletions in their partners. In males, microdeletions of the Y chromosome are known to cause spermatogenetic failure and male infertility.
  
  
  OBJECTIVE
  The aim of the study was to find out the role of Y chromosome microdeletion in male partners of couples experiencing RPL.
  
  
  METHODS
  University hospital and genetic laboratory. Prospective case-control study.
  
  
  METHODS
  59 couples with a history of RPL and 20 fertile controls (FC) with no miscarriage were included in the study. The study subjects were divided into male partners of RPL couples with abnormal semen parameters (AS) (n = 8), and couples with normal semen parameters (NS) (n = 51). Fertile controls with normal semen parameters were (FC) (n = 20). Y chromosome microdeletion was performed on 40 male partners of RPL and 20 FC.
  
  
  METHODS
  Chi-square test. P <0.05 were considered statistically significant.
  
  
  RESULTS
  13 of the 40 RPL cases showed deletion in three azoospermia factor loci on the long arm of Y chromosome. The P value was significant with Y chromosome microdeletion in RPL cases as compared to 20 FC where no Y chromosome microdeletion was present.
  
  
  CONCLUSIONS
  Y chromosome microdeletion may be an important hidden cause of recurrent pregnancy miscarriage and can be offered to couples with the undiagnosed cause of miscarriage.
authors.affiliation: Department of Obstetrics and Gynaecology, Teerthanker Mahaveer Medical College and Research Centre, TMU, Moradabad, India.
authors.forename: Shubhra
authors.initials: S
authors.lastname: Agarwal
authors.affiliation: Department of Radiology, Teerthanker Mahaveer Medical College and Research Centre, TMU, Moradabad, India.
authors.forename: Arjit
authors.initials: A
authors.lastname: Agarwal
authors.affiliation: Department of Obstetrics and Gynaecology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India.
authors.forename: Anuradha
authors.initials: A
authors.lastname: Khanna
authors.affiliation: Department of Molecular and Human Genetics, BHU, Varanasi, Uttar Pradesh, India.
authors.forename: Kiran
authors.initials: K
authors.lastname: Singh
keywords: Recurrent pregnancy miscarriage; Y chromosome microdeletion; semen analysis