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Identification of olfactory dysfunction in carriers of X‐linked Kallmann's syndrome
Author(s) -
Kirk J. M. W.,
Grant D. B.,
Savage M. O.,
Besser G. M.,
Bouloux P.M. G.
Publication year - 1994
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.1994.tb01821.x
Subject(s) - hyposmia , kallmann syndrome , medicine , anosmia , endocrinology , olfaction , olfactory system , biology , neuroscience , disease , covid-19 , infectious disease (medical specialty)
Summary OBJECTIVE The aim of the study was to test the hypothesis that clinically unaffected female carriers of X‐linked Kallmann's syndrome have an olfactory defect. DESIGN Assessment of the olfactory threshold to seven standard odorants, each at a concentration of 1‐10 ‐8 mol/1. PATIENTS Five families with X‐linked Kallmann's syndrome (KS) were tested, containing 19 males with KS, and 9 female carriers. Related but unaffected males ( n = 8) were used as a control group, and in addition seven patients with Turner's syndrome (XO) were assessed. MEASUREMENTS The olfactory threshold was taken as the lowest concentration at which each odorant was clearly distinguished from control (liquid paraffin). The threshold for each odorant was compared between the subject groups using the non‐parametric Mann‐Whitney test. RESULTS All patients with KS were anosmic to all odorants. The female carriers had hyposmla, 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 Turner's syndrome. The latter had olfactory thresholds which were statistically identical with the control group. CONCLUSIONS Obligate female carriers of X‐linked Kallmann's syndrome are hyposmic compared to control subjects. The overlap between the two groups, however, makes olfactory testing unreliable as a diagnostic test.