R. Birnbacher et al., DIAGNOSIS OF X-RECESSIVE KALLMANN SYNDROME IN EARLY INFANCY - EVIDENCE OF HYPOPLASTIC RHINENCEPHALON, European journal of pediatrics, 153(4), 1994, pp. 245-247
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.