Síndrome de Kallmann: uma revisão histórica, clínica e molecular

Ribeiro, Rogério Silicani; Abucham, Júlio

doi:10.1590/s0004-27302008000100004

Cited by 10 publications

(6 citation statements)

References 53 publications

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“…KS was first described by Aureliano Maestre de San Juan [2] in 1856, who described the absence of olfactory bulbs during the necropsy of a 40-year-old man that had a microphallus and atrophy of the testis. The incidence of KS has been estimated to be from 1:8,000 to 1:10,000 in men and 1:50,000 in women [3,4]. …”

Section: Introductionmentioning

confidence: 99%

Quantitative Magnetic Resonance Imaging Evaluation of the Olfactory System in Kallmann Syndrome: Correlation with a Clinical Smell Test

Koenigkam-Santos¹,

Santos²,

Versiani

et al. 2011

Neuroendocrinology

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Objectives: To measure olfactory bulbs and sulci using dedicated magnetic resonance imaging (MRI) sequences and specific measurement tools in Kallmann syndrome (KS) patients with a well-established genotype and phenotype, as well as correlate MRI findings with a clinical smell test. Methods: MRI was performed in 21 patients with KS and 16 healthy volunteers; olfactory dysfunction was assessed using the Smell Identification Test (UPSIT), a qualitative suprathreshold olfaction test. Coronal turbo spin echo T2-weighted and volumetric T1-weighted gradient echo sequences were acquired in a 1.5T system. ImageJ software was used to obtain olfactory bulb volumes and olfactory sulcus depths and lengths. Data were analyzed with SPSS 15.0 and the Kappa index was used to evaluate the agreement between the UPSIT and MRI. Results: The UPSIT showed 14 patients with anosmia and 6 with moderate hyposmia. Eighteen patients (85%) presented altered rhinencephalon structures in the MRI. Sixteen patients (76%) presented olfactory bulb aplasia (14/16 bilaterally), and these patients presented a total of 16 aplastic sulci. There was moderate agreement between the MRI quantitative evaluation and the UPSIT (overall Kappa = 0.55), but when considering the presence of aplastic bulbs and anosmia, we found almost perfect agreement (Kappa = 0.87). Three patients had normal rhinencephalon structures, including one with a KAL1 gene mutation. Conclusion: Olfactory bulb and sulcus aplasia were the most common findings in KS patients. We objectively demonstrated agreement between MRI findings and the smell test, especially the presence of bulb aplasia and anosmia. Therefore, our findings help ascertain MRI accuracy in the diagnosis of KS, differentiating patients with hypogonadotropic hypogonadism with an apparently normal or difficult to evaluate sense of smell.

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Section: Introductionmentioning

confidence: 99%

Quantitative Magnetic Resonance Imaging Evaluation of the Olfactory System in Kallmann Syndrome: Correlation with a Clinical Smell Test

Koenigkam-Santos¹,

Santos²,

Versiani

et al. 2011

Neuroendocrinology

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“…The impaired individuals do not understand the idea of smell; therefore, they do not miss it. Due to the fact some chemical receivers still remain intact, bitter, irritating smells and tastes can be normally detected (24,25).…”

Section: Etiologymentioning

confidence: 99%

Anormalidades sensoriais: olfato e paladar

Neto¹,

Targino²,

Peixoto³

et al. 2011

Arquivos Int. Otorrinolaringol. (Impr.)

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Introduction: Taste and smell abnormalities have proven to be an extremely more complex subject than previously regarded. Wide-ranging nosologic entities arise along with smell and taste alterations, and they can be congenital or acquired. Objective: Analyze the main features of smell and taste dysfunctions. Method: Automated databases were used to collect data, by searching keywords like 'alteration', 'smell', and 'taste'. A nonsystematic search was also made in scientific printings and medical books. Literature Review: Smell and taste dysfunctions have a vast etiology, the most significant of which are obstructive nasal and sinusal disease, infections of the upper respiratory tract, cranioencephalic trauma, aging, exposure to toxics and some drugs, nasal or intracranial neoplasias, psychiatric and neurological pathologies, iatrogenic disease, idiopathic and congenital causes. A detailed anamnesis, a careful physical examination and supplementary evaluations are important for the diagnosis of these alterations. Conclusion: As a rule, smell and taste dysfunctions occur in a combined way. The early discovery of such dysfunctions can lead to a more efficient treatment, making the progress of diseases causing them retard and the symptoms less severe. In many cases, treating these alterations is not easy and there needs to be a multidisciplinary cooperation among the otorhinolaryngologist, endocrinologist, neurologist, psychiatrist, among others.

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“…Cardiovascular abnormalities, unilateral renal agenesis, cryptorchidism, synkinesis with mirror movements, cleft palate, cleft lip, colour blindness, sensorineural hearing loss and atrophy of the optic nerve may also be present 1–3 . Approximately 60% of cases are sporadic, and the familial forms have known genetic patterns: X‐linked inheritance, autosomal dominant and autosomal recessive 4,5 …”

Section: Introductionmentioning

confidence: 99%

“…[1][2][3] Approximately 60% of cases are sporadic, and the familial forms have known genetic patterns: X-linked inheritance, autosomal dominant and autosomal recessive. 4,5 During embryogenesis, olfactory neurons guide GnRHsecreting neurons from the nasal placode to the central nervous system (CNS). 5,6 Genetic mutations, when present, result in an error in this migratory process that leads to the pathogenesis of the syndrome.…”

Section: Introductionmentioning

confidence: 99%

Reconsidering the olfactory and brain structures in Kallmann's syndrome: New findings in the analysis of volumetry

Trentin

Daniel

Reis

et al. 2022

Clinical Endocrinology

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Objective: Kallmann's syndrome (KS) is characterized by hypogonadotropic hypogonadism and olfactory disorders. The complementary exams for evaluating of patients with hypogonadotrophic hypogonadism are important for the diagnosis and management of these patients.Patients: We performed a well-established olfactory Sniffin' Stick test (SST) on 17 adult patients with KS and brain magnetic resonance imaging (MRI) to evaluate olfactory structures and further analysis by Freesurfer, a software for segmentation and volumetric evaluation of brain structures. We compared the Freesurfer results with 34 healthy patients matched for age and sex and performed correlations between the data studied.Results: More than half of the patients with KS reported preserved smell but had olfactory disorders in the SST. In the MRI, 16 patients showed changes in the olfactory groove, the olfactory bulb-tract complex was altered in all of them and 52% had symmetrical structural changes. Interestingly, the pituitary gland was normal in only 29%. Regarding correlations, symmetrical changes in the olfactory structures were related to anosmia in 100%, while asymmetric changes induced anosmia in only 50% (p = .0294). In Freesurfer's assessment, patients with KS, compared to controls, had lower brainstem volume. In those with aplastic anterior olfactory sulcus, the brainstem volume was lower than in hypoplasia (p = .0333).Conclusions: Olfactory assessment and MRI proved to be important auxiliary tools for the diagnosis and management of patients with KS. New studies are needed to confirm the decrease in brainstem volume found by the Freesurfer software in patients with KS. Further studies are needed to confirm the decrease in brainstem volume found by the Freesurfer software in patients with KS.

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Síndrome de Kallmann: uma revisão histórica, clínica e molecular

Cited by 10 publications

References 53 publications

Quantitative Magnetic Resonance Imaging Evaluation of the Olfactory System in Kallmann Syndrome: Correlation with a Clinical Smell Test

Quantitative Magnetic Resonance Imaging Evaluation of the Olfactory System in Kallmann Syndrome: Correlation with a Clinical Smell Test

Anormalidades sensoriais: olfato e paladar

Reconsidering the olfactory and brain structures in Kallmann's syndrome: New findings in the analysis of volumetry

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