Identification of olfactory dysfunction in carriers of XXXX .

@entity1 @entity1112 @entity982 @entity2689 @entity9905 @entity12608
OBJECTIVE: The aim of the study was to test the hypothesis that clinically unaffected female carriers of @entity1112 have an olfactory defect. DESIGN: Assessment of the olfactory threshold to seven standard odorants, each at a concentration of 1-10(-8) mol/l. @entity1 : Five families with @entity1112 ( @entity12608 ) were tested, containing 19 males with @entity12608 , and 9 female carriers. Related but unaffected males (n = 8) were used as a control group, and in addition seven @entity1 with @entity2689 ( @entity2689 ) were assessed. MEASUREMENTS: The olfactory threshold was taken as the lowest concentration at which each odorant was clearly distinguished from control (liquid @entity982 ). The threshold for each odorant was compared between the subject groups using the non-parametric Mann-Whitney test. RESULTS: All @entity1 with @entity12608 were anosmic to all odorants. The female carriers had @entity9905 , with a significant reduction in the olfactory threshold to putrid, peppermint, floral and pungent odorants compared to control subjects, and to peppermint, floral and pungent odorants compared to subjects with @entity2689 . The latter had olfactory thresholds which were statistically identical with the control group. CONCLUSIONS: Obligate female carriers of @entity1112 are hyposmic compared to control subjects. The overlap between the two groups, however, makes olfactory testing unreliable as a diagnostic test.
