title: 46XY Disorder of Sexual Development in Menstrual Dysfunction.
abstract: BACKGROUND
  Any deviation of the normal prenatal development right from gametogenesis may give rise to condition now known as disorders of sex development. XY gonadal dysgenesis is characterized by 46,XY chromosome complement with female phenotype and streak gonads. This study reports incidental finding of eight such cases.
  
  
  OBJECTIVE
  To find out correlation between clinical findings and chromosome complement in cases presenting with menstrual dysfunction.
  
  
  METHODS
  Prospective, cross-sectional study conducted in a tertiary healthcare center.
  
  
  METHODS
  Chromosomes were studied after planting and harvesting through conventional short-term culture method. Attempt was made to correlate the cytogenetic findings with other clinical findings of cases.
  
  
  METHODS
  Nil.
  
  
  RESULTS
  Hundred cases of menstrual dysfunction referred from other clinical departments were studied. Abnormal chromosomes were obtained in total ten cases where 46XY disorder of sex development was observed in eight cases and two- cases had Turner syndrome. It was observed that these cases belonged to primary and secondary amenorrhea only. There were six cases where the chromosomal complement was 46,XY and two cases with mosaicism of 46,XY/45,X. Patients with hypomenorrhea and oligomenorrhea had normal chromosomal findings.
  
  
  CONCLUSIONS
  It is possible to have normal looking females with normal development of secondary sex characters to have abnormal chromosome complement. Cytogenetic testing becomes inevitable in such cases. If possible, molecular diagnostic methods also can be employed for detailed description of derangement.
authors.affiliation: Department of Anatomy, Lokmanya Tilak MMC, Sion, Mumbai, 400022 India ; Department of Anatomy, Grant Medical College, Byculla, Mumbai, 400008 India.
authors.forename: Jayaben S
authors.initials: JS
authors.lastname: Charania
authors.affiliation: Department of Anatomy, Grant Medical College, Byculla, Mumbai, 400008 India.
authors.forename: Vidya V
authors.initials: VV
authors.lastname: Salaskar
keywords: Amenorrhea; Cytogenetic; Disorders of sex development; Turner syndrome