SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Johnson et al [1983] reported on a large family with alopecia-anosmia-deafness-hypogonadism syndrome. We report the detailed findings of an unrelated, affected individual and emphasize the presence of hypohidrosis in our case. Our case indicates that this syndrome is not a private syndrome.
We describe a family consisting of 3 affected men with congenital ichthyosis, anosmia, hypogonadism, nystagmus with decreased visual acuity, strabismus, hypopigmentation of the iris, and mirror movements of the hands and feet. Two of them had limitation of ocular movement and unilateral renal agenesis or hypoplasia. The condition appears to be inherited as an X-linked recessive trait. Clinical, pathological, and biochemical evaluations were compatible with a diagnosis of X-linked ichthyosis. Steroid sulfatase and arylsulfatase C activities in leukocytes and fibroblasts were markedly diminished in the affected patients. Their hypogonadism was due to decreased luteinizing hormone-releasing hormone secretion (hypogonadotropic). Hyposecretion of antidiuretic hormone was also recognized. Chromosome analysis of leukocytes and skin fibroblasts revealed a normal 46,XY male karyotype in all of the patients.
A patient with hypogonadotropic hypogonadism and anosmia (Kallmann's syndrome) had an associated chromosomal abnormality. Evaluation of the hypothalamic pituitary axis showed undetectable basal LH and FSH and slight increases in both gonadotropins in response to GnRH. Augmented gonadotropin response to GnRH after serial subcutaneous injections of GnRH confirmed a hypothalamic defect. Additional endocrine tests failed to reveal other hormone dysfunctions. A supernumerary chromosome was detected by routine chromosome analysis. The extra genetic material was identified by differential cytogenetic banding procedures as an accessory bisatellited marker chromosome originating from either chromosome group D or G. Chromosome analyses of both parents were normal. Our results suggest that, in at least some cases, the Kallmann's phenotype may be associated with a chromosome abnormality.
A new genetic syndrome of the combined occurrence of hypogonadotropic hypogonadism, anosmia (Kallmann syndrome) and congenital mirror movements in four brothers is presented. Mirror movements were manifest only within the distal parts of the upper extremities and resembled congenital mirror movements described for isolated or familial cases or those occurring in combination with other genetic defects. The hypothesis is supported, that a midline fusion disorder with preponderance of uncrossed pyramidal tract fibers is a major pathogenetic factor for the occurrence of congenital mirror movements.
We devised our own instrument for obtaining biopsy specimens of human olfactory epithelium. We obtained specimens from two patients with anosmia caused by head trauma. The morphological changes in the olfactory epithelia were studied by light microscopy and transmission electron microscopy. With little damage or early stage of changes, the characteristic finding involved degeneration of the olfactory vesicles, especially with the disappearance of cilia. In the case of great damage and the final stage of injury, no olfactory vesicles were found at the epithelial surface and the olfactory epithelia presented a disorganized cellular arrangement of cells with an atrophic appearance. Our findings indicate that the epithelial degeneration occurring in traumatic olfactory dysfunction varies according to the degree of damage incurred and the time lapse present from injury.
There have been several studies on anosmia following operations on anterior circulation aneurysms, but no similar study has yet been reported on pituitary gland adenomas which required the transcranial approach. In this study, 38 cases with pituitary gland adenomas, for whom the pterional approach was employed, were observed retrospectively from the point of view of postoperative olfactory nerve function. In the postoperative period only one case complained of impaired sense of smell on the operated side. Eight cases objectively showed olfactory nerve dysfunctions. The olfactory nerve function could be preserved at a relatively high rate of 79 per cent. This high rate, we think, resulted from the microtechnique employed as well as the relatively cautious frontal retraction which was less than 1.5 cm.
Although the sitting position offers advantages for posterior fossa surgery, it is accompanied by complications such as air embolism and pneumatocephalus. Subdural and epidural haematomas are less common postoperative complications of posterior fossa surgery. To the best of our knowledge, however, anosmia is not a known sequela of surgery in the sitting position. It has been described following aneurysm surgery in the rostral part of the circle of Willis and is, of course, well known in traumatic brain injury.
A patient's case report documents the development of anosmia and rhinitis caused by occupational exposure to organic solvents, including tetrahydrofuran, cyclohexanone, acetone and other ketones. Physicians should inquire about possible mucosal irritation or prenarcotic symptoms during exposure. If an occupational disease is assumed, notification must be sent to the Institution for Statutory Accident Insurance and Prevention (Berufsgenossenschaft). Some diseases, for example olfactory disorders due to chemical mixtures, are not included in the German list of occupational diseases. In this case, a special law (Sozialgesetzbuch VII) regulates compensation.
An 18-year-old woman with anosmia and hypogonadotropic hypogonadism is presented. In addition endocrinologic evaluation revealed an apparent deficiency in pituitary growth hormone secretion in response to hypoglycemia and an ovarian insensitivity to exogenous gonadotropins. The ovaries, which on histologic examination appeared to be normal, upon karyotyping showed a chromosomal mosaicism, probably 46, XX/47, XXF+.
Ovarian biopsies from five women with the syndrome of hypogonadotropic hypogonadism and anosmia who had not previously received exogenous gonadotropins were evaluated with special emphasis on follicular morphology. Follicular development past the primordial stage was rarely observed, suggesting that early stages of follicular maturation require amounts of gonadotropins in excess of those secreted in these women.
Adult owl monkeys behaved aggressively when paired with unfamiliar members of the same sex. Males showed the greatest aggressive responses. When plugs containing bismuth iodoform paste were inserted into the nasal passages of male owl monkeys they fought less readily and showed less contact aggression. Although intermale aggression was not abolished anosmic males spent longer in proximity and showed an increase in olfactory inspections. Control experiments confirmed that the technique used to induce anosmia had blocked responsiveness to conspecific odours and that decreases in aggression were not due to discomfort or non-specific behavioral effects.
It is well established that male rats with prior access to sexually active females show enhanced offensive aggression toward unfamiliar male intruders. The present study assessed the importance of the sense of smell for this facilitatory effect. It was found in 2 independent experiments that anosmia, induced peripherally by surgically removing the olfactory epithelium and cutting the olfactory nerves, reduced baseline levels of offensive aggression and significantly attenuated the female-enhanced aggression effect. It was also found that sexual performance of anosmic rats was context-dependent, in that it was more impaired in the homecage environment than in standard observation cages. In contrast to sham-operated males, the experimental animals showed no preference for estrous over anestrous females in a mate choice test. Anosmic males did not appear more fearful than controls, as assessed in a hyponeophagia test, but they showed less exploratory behavior (rearing and head-dipping) in the hole-board test, and less rearing activity in automated activity boxes.
Rats trained in an olfactometer were tested for retention of an odor detection and odor discrimination task after lesions of the olfactory peduncle. Large lesions of the peduncle, including transection of the lateral olfactory tract and anterior commissure resulted in severe deficits in retention and relearning but did not produce anosmia. Discrete lesions of the lateral olfactory tract had little or no effect on retention. The results indicate that the lateral and intermediate olfactory pathways are not essential for smell and suggest that significant olfactory function may be mediated by medial olfactory bulb projections.
Four men with hypogonadotropic hypogonadism and anosmia were tested with acute intravenous injections of luteinizing hormone-releasing hormone (LH-RH) and D-leucine-6-LH-RH-ethylamide (D-L eu-6-LH-RH-EA) with a 1-week interval. Each patient was then treated with this drug for 60 days and tested again after this period with an intravenous injection of D-L eu-6-LH-RH-EA. The administration of LH-RH resulted in a significant increase in the LH level in only one patient and in follicle-stimulating hormone (FSH) and testosterone increases in none. The analog D-Leu-6-LH-RH-EA resulted in significant increases in LH levels in two patients, in FSH levels in three, and in testosterone levels in one. Results obtained after treatment were closely similar to those observed before treatment. Clinical improvement in terms of increased libido, erection, pubic hair growth, and testicular size was observed. D-Leu-6-LH-RH-EA could be useful in the treatment of patients with hypogonadotropic hypogonadism, a possibility deserving further studies.
Hypogonadotropic hypogonadism with anosmia was found in a 38 year old female. Cardiac abnormalities were manifested by a second degree heart block as well as a conduction delay below the AV node. Striking T wave inversions developed in the absence of any symptoms. These changes probably reflect a central nervous system defect.
Smell loss associated with nasal sinus disease can be a frustrating condition for patients and their physicians. A better understanding of the causes and pathophysiology of olfactory dysfunction can provide a framework from which the physician can plan appropriate treatment and counsel patients as to probable outcomes. This article reviews the pathophysiology of smell loss and the diagnostic paradigms and treatment approaches for the more common causes of anosmia.
Quantitative morphometric methods were used to examine the effects of early unilateral anosmia on two classes of granule cells in developing mouse olfactory bulbs. Volumetric results show that the internal granule cell layer in the deprived olfactory bulb is significantly smaller than the same layer in the experienced olfactory bulb. The major factor contributing to this retarded development is a selective loss of one class of interneurons; dark granule cell number is substantially reduced, while light granule cell number is not. This selective effect appears to be related to the time course of cell proliferation and differentiation and provides clues to the way early experience regulates neural development.
Chlorine gas is known to be a potent irritant to the eyes, nose, throat and lungs with severe exposure resulting in pulmonary oedema and even death. There have been no case reports, however, of chlorine inducing anosmia. We present such a case, along with a review of the literature on the toxicology of chlorine and its effect on the nose.