Father-to-son transmission of hypogonadism with anosmia: Kallmann's syndrome
G. R. Merriam, I. Z. Beitins and H. H. Bode
Gonadal and olfactory features of Kallmann's syndrome, usually considered
to be inherited as an X-linked recessive trait, were found in a father and
son who both had cryptorchidism, hypogonadism, and hyposmia. The father's
fertility had been induced with chorionic gonadotropin, leading to the
birth of three children. Olfactory and gonadal functions were normal in the
mother and two siblings. The father had low basal plasma testosterone and
subnormal follicle stimulating hormone (FSH) response to luteinizing
hormone-releasing hormone (LH-RH). The affected son and his healthy brother
were prepubertal. Their basal plasma total and free testosterone, serum FSH
and luteinizing hormone (LH), and response to LH-RH were similar. The
clinical presentation and formal olfactory function studies were considered
most helpful for the suggestive diagnosis of Kallmann's syndrome in
children. The occurrence of this syndrome in this family is consistent with
autosomal dominant inheritance.
