diagnosis and treatment
Last reviewed 01/2018
Olfactory deficiencies can be demonstrated using simple stimuli such as cloves, peppermint and eucalyptus. Serum LH and FSH are low.
Exogenous sex steroid should be given to induce and maintain secondary sexual characteristics.
As the underlying defect is at the hypothalamic level, fertility may be achieved by means of pulsatile GnRH, administered by means of a pump worn 24 hourly. However, the pumps are expensive, available only in specialist centres and often perceived as a nuisance.
Alternative therapy with exogenous gonadotrophins in the form of hCG or as human menopausal gonadotrophin which contains both FSH and LH may be tried.
About 50% of treated patients may achieve pregnancies.