OBJECTIVE Kallmann's syndrome (KS) is defined by the association of olfacto
ry deficit with irreversible, congenital gonadotrophin deficiency (IHH). We
present evidence for the existence of a variant form of KS, in which endog
enous gonadotrophin secretion recovers spontaneously in later life.
DESIGN Longitudinal clinical study.
PATIENTS Five men with anosmia or severe hyposmia, who originally presented
in their late teens or early twenties as a result of severe pubertal delay
and were thus presumed to have KS.
RESULTS Spontaneous onset of endogenous gonadotrophin secretion, evidenced
by progressive normalization of testicular volume and of serum testosterone
concentration, occurred in these men over a period of years following the
initial diagnosis.
CONCLUSIONS This variant form of Kallman's syndrome is not well recognized
and may well be underdiagnosed. Once full virilization has been induced, ma
les with congenital gonadotrophin deficiency whose testes have significantl
y increased in size should be reassessed, off androgen replacement therapy,
to identify those who no longer require treatment.