DIRECT INSERTION OF EUCHROMATIC MATERIAL FROM CHROMOSOME-Y IN THE X-CHROMOSOME IN HYPOGONADOTROPIC HYPOGONADISMS WITH CROHNS-DISEASE

The relationship between chromosomal abnormalities and Crohn's disease has not been established. Crohn's disease is associated with inflamma tion of the bowel, severe abdominal pain and chronic diarrhea. Its eti ology is not known at present. A recessive gene with incomplete penetr ance is thought to be a factor which does not follow simple mendelian inheritance. We report a case, where the euchromatin material of Y chr omosome (p11.1 p11.2) has been directly inserted into the long arm of the X chromosome (q21.2), and is assumed to be the most likely cause o f hypogonadotropic hypogonadism in this patient. It could also be that the function of the testis-determining factor (SRY) has been disrupte d due to the insertion, causing loss of testicular development.