DIAGNOSIS OF X-RECESSIVE KALLMANN SYNDROME IN EARLY INFANCY - EVIDENCE OF HYPOPLASTIC RHINENCEPHALON

A 3-month-old infant presented with hypogonadism, a small penis and bi lateral cryptorchidism. He showed an insufficient response of luteotro pic hormone (LH) and follicle stimulating hormone (FSH) to luteotropic hormone releasing hormone (LHRH) and of testosterone to human chorion ic gonadotrophin. The maternal uncle had hypogonadism and anosmia and also showed an impaired LH and FSH response to LHRH. MRI examination s howed hypoplasia of the rhinencephalon in both cases. These findings i n the son and brother of the clinically unaffected mother suggest X-li nked recessive inheritance.