Unique Presentations and the Psychosocial Aspects of the Management of an Unusual Case of Chimerism in Nepal: A Case Report

Abstract

46XX/46XY is an exceptionally rare chimeric genetic condition characterized by the presence of some cells that express a 46XX karyotype and some cells that express a 46XY karyotype in a single human being. The incidence is not exactly known as the majority of diagnoses go unreported in the literature. Patients that express 46XX/ 46XY karyotype show a wide spectrum of different physical presentations, ranging from features of both male and female to a completely normal male or female phenotype. Hence, we  present a case of a female hermaphrodite (75% 46 XX/ 25% 46 XY) karyotype who was raised as a phenotypic male. He possessed a uterus and an ovary on one side as internal genitalia and a micropenis, fused labia majoral fold as external genitalia. He presented to the Emergency with an acute abdomen which was subsequently diagnosed as hematometra and haematosalpinx and treated with total abdominal hysterectomy and right salphingo-oophorectomy. This case shows the importance of genetic analysis in the appropriate diagnosis of chimera, as well as the challenge of the sociocultural approach of them.