46XY disorder of sexual development in menstrual dysfunction

Context: 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. Aim: To find out correlation between clinical findings and chromosome complement in cases presenting with menstrual dysfunction. Settings and Design: Prospective, cross-sectional study conducted in a tertiary healthcare center. Materials and 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. Statistical Analysis: 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. © 2012 Federation of Obstetric & Gynecological Societies of India.