A case of 20-year-old woman with hypogonadotropic hypogonadism and anosmia is reported, since very few female cases of Kallmann's syndrome have been reported so far in Japan. Three uncles on the father's side had no children. Height was 168 cm, and arm span 165 cm. The olfactory test revealed complete anosmia. Bone age was 13 year. Chromosome was 46 XX and normal karyotype. Basal levels of serum FSH, LH and estrogens (E1, E2 and E3) were low. Serum FSH and LH levels rose slightly only after LH-RH administration, and did not increase in clomiphene test. Plasma estrogens did not increase after daily injection of 150 IU of HMG for 3 successive days. The response of serum GH to arginine infusion was normal, while that to insulin-induced hypoglycemia was poor. (+info)
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.
A sibship is described where the brother and a sister both have Kallmann's syndrome (anosmia and deficiency of gonadotrophin releasing hormone) and the woman also has streak ovaries. Although there are several conditions that may occur with Kallmann's syndrome, there are no known reports of ovarian dysgenesis being associated with this disorder. Cytogenetic analysis showed no rearrangement or major deletions of the chromosomes. Linkage analysis using informative microsatellite markers predicts that a gene other than KAL1 (at Xp22.3) is implicated in the Kallmann's syndrome manifesting concurrently with ovarian dysgenesis found in this family. (+info)
What a tangled web we weave: discriminating between malingering and anosmia.
Two groups of normosmic subjects were instructed to feign a total olfactory loss when tested with the Olfactory Confusion Matrix (OCM). One of the groups was given specific instructions as to the number of odorants and trials in the test, as well as the number of items that might be expected to be correctly identified by chance. The responses of both groups of malingerers were compared with responses gathered from a group of anosmic patients. The groups did not differ in terms of performance level (percent correct). In spite of the similarity in terms of accuracy level, an analysis of the pattern of OCM responses to an irritant allowed the anosmic patients to be distinguished from subjects attempting to feign a loss. Subjects were given explicit details about the test performed at the same level as those simply told to feign a loss. These results suggest that the OCM is an effective tool in separating malingering from anosmia. (+info)
Assessing the impact of anosmia: review of a questionnaire's findings.
The inability to detect odours, anosmia, can cause profound psychological effects resulting in feelings of physical and social vulnerability and victimization. In addition, there may be unhappiness related to the loss of the ability to detect pleasurable food smells and, as a consequence, anosmics may develop problems relating to eating. These profound effects arise from a condition which can have a rapid onset and a very poor prognosis for recovery, and are largely treated with a lack of sympathy and indifference by people with normal olfactory ability. In an attempt to educate, inform and help sufferers, a questionnaire was developed in the early 1980s and sent to those who contacted the Warwick Olfaction Research Group. The responses from this questionnaire form the basis of this review. Feelings of personal isolation, lack of interest in eating and emotional blunting were common responses from these sufferers and it seems that we still have some way to go before an adequate recognition of problems associated with anosmia is gained by the general population and, more importantly, within the medical profession. (+info)
Is Parkinson's disease a primary olfactory disorder?
It has been known for over 30 years that olfactory function is disordered in idiopathic Parkinson's disease (IPD). The severity and partial specificity of anosmia was not realized until recently, with the advent of more detailed analysis and sophisticated measurement. The olfactory vector hypothesis suggests that the causative agent for IPD enters the brain via the nasal route, but the reason for olfactory dysfunction may be more subtle. Evidence for olfactory disturbance is reviewed from pathological, psychological, neurophysiological and genetic stand-points. It is proposed that the initial causative event in IPD may start in the rhinencephalon (olfactory brain) prior to damage in the basal ganglia. (+info)
Smell and taste disorders: a primary care approach.
Smell and taste disorders are common in the general population, with loss of smell occurring more frequently. Although these disorders can have a substantial impact on quality of life and may represent significant underlying disease, they are often overlooked by the medical community. Patients may have difficulty recognizing smell versus taste dysfunction and frequently confuse the concepts of "flavor" and "taste." While the most common causes of smell disturbance are nasal and sinus disease, upper respiratory infection and head trauma, frequent causes of taste disturbance include oral infections, oral appliances (e.g., dentures), dental procedures and Bell's palsy. Medications can interfere with smell and taste, and should be reviewed in all patients with reported dysfunction. In addition, advancing age has been associated with a natural impairment of smell and taste ability. A focused history and a physical examination of the nose and mouth are usually sufficient to screen for underlying pathology. Computed tomographic scanning or magnetic resonance imaging of affected areas, as well as commercially available standardized tests, may be useful in selected patients. The causes of olfactory dysfunction that are most amenable to treatment include obstructing polyps or other masses (treated by excision) and inflammation (treated with steroids). Enhancement of food flavor and appearance can improve quality of life in patients with irreversible dysfunction. (+info)
A novel mutation of the KAL1 gene in Kallmann syndrome.
Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia, for which three modes of transmission have been described: X-linked, autosomal recessive and autosomal dominant. The KAL1 gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined. We report sequence analysis using PCR-direct sequencing method of the entire coding region and splice site junctions of the KAL1 gene in three males with Kallmann syndrome. We found a novel mutation in one case and no mutation in the other two cases. The mutation consisted of a C to T substitution in exon 1 converting codon 66 (CAG) encoding glutamine into a termination codon (TAG)/(Q66X). As a consequence of this mutation, the function of the KAL1 protein consisting of 680 amino acids was severely truncated so as to be consistent with Kallmann syndrome. As only this patient had unilateral renal hypoplasia among the three cases, this would suggest the existence of KAL1 gene mutation in this abnormality. (+info)
Psychological test performance during experimental challenge to toluene and n-butyl acetate in cases of solvent-induced toxic encephalopathy.
OBJECTIVES: This study determined whether performance in neurobehavioral tests deteriorates during subjectively annoying chemical challenge below known neurotoxic thresholds among persons with toxic encephalopathy with subjective hypersensitivity to chemicals. METHODS: Subjects with symptoms and previous neuropsychological test results compatible with toxic encephalopathy (TE) of either type 2A (N=12) or 2B (N=12) and unexposed referents (N=12) were challenged in an exposure chamber. In a counterbalanced design, the subjects were exposed on 2 occasions to increasing air concentrations of n-butyl acetate and toluene at levels well below the thresholds for neurotoxic effects. Attention and motor speed tests were given (i) in room air outside the chamber before the challenge, (ii) in room air inside the chamber before the exposure, (iii) at 12 ppm (44 or 56 mg/m3), and (iv) at 48 ppm (at 180 or 228 mg/m3). RESULTS: For both substances the TE groups showed a slight increase (deterioration) in the simple reaction-time task during chemical exposure, but not in the complex reaction-time task or in the digit symbol test of the Wechsler Adult Intelligence Scale. Contrary to reference subjects, the TE subjects did not show any improvement or learning effect in the digit symbol test over the chamber phases. n-Butyl acetate tended to affect cognitive functioning more obviously than toluene did. Suggestion or expectancy effects were not observed in any group in the clean-air baseline conditions. CONCLUSIONS: The results do not support the notion that men with subjective hypersensitivity to chemicals would be more affected than healthy men regarding cognitive functioning during annoying solvent exposure below thresholds for acute neurotoxic effects. (+info)