A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.
If Akhenaten's disorder was indeed partly Kallmann's syndrome
(as we suggest), he almost certainly also lacked a sense of smell and, as he aged, possibly developed loss of hearing, blindness and odd neurological defects.
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann's syndrome
. Nat Genet 2003; 33:463-465.
It is necessary to diagnose Kallmann's syndrome
, as timely replacement can restore secondary sex characters and fertility.
Father-to-son transmission of hypogonadism with anosmia: Kallmann's syndrome
. Am J Dis Child 1977; 131: 1216-1219.