| 1. |
- Balercia, G., et al.
(författare)
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Thyroid function in Klinefelter syndrome: a multicentre study from KING group
- 2019
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Ingår i: Journal of Endocrinological Investigation. - : Springer Science and Business Media LLC. - 0391-4097 .- 1720-8386. ; 42:10, s. 1199-1204
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Tidskriftsartikel (refereegranskat)abstract
- - Purpose: The prevalence and the etiopathogenesis of thyroid dysfunctions in Klinefelter syndrome (KS) are still unclear. The primary aim of this study was to evaluate the pathogenetic role of hypogonadism in the thyroid disorders described in KS, with the scope to distinguish between patients with KS and hypogonadism due to other causes (Kallmann syndrome, idiopathic hypogonadotropic hypogonadism, iatrogenic hypogonadism and acquired hypogonadotropic hypogonadism after surgical removal of pituitary adenomas) called non-KS. Therefore, we evaluated thyroid function in KS and in non-KS hypogonadal patients. Methods: This is a case–control multicentre study from KING group: Endocrinology clinics in university-affiliated medical centres. One hundred and seventy four KS, and sixty-two non-KS hypogonadal men were enrolled. The primary outcome was the prevalence of thyroid diseases in KS and in non-KS. Changes in hormonal parameters were evaluated. Exclusion criterion was secondary hypothyroidism. Analyses were performed using Student’s t test. Mann–Whitney test and Chi-square test. Results: FT4 was significantly lower in KS vs non-KS. KS and non-KS presented similar TSH and testosterone levels. Hashimoto’s thyroiditis (HT) was diagnosed in 7% of KS. Five KS developed hypothyroidism. The ratio FT3/FT4 was similar in both groups. TSH index was 1.9 in KS and 2.3 in non-KS. Adjustment for differences in age, sample size and concomitant disease in multivariate models did not alter the results. Conclusions: We demonstrated in KS no etiopathogenic link to hypogonadism or change in the set point of thyrotrophic control in the altered FT4 production. The prevalence of HT in KS was similar to normal male population, showing absence of increased risk of HT associated with the XXY karyotype. © 2019, Italian Society of Endocrinology (SIE).
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| 2. |
- Fabrazzo, M., et al.
(författare)
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Quality of life in Klinefelter patients on testosterone replacement therapy compared to healthy controls: an observational study on the impact of psychological distress, personality traits, and coping strategies
- 2021
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Ingår i: Journal of Endocrinological Investigation. - : Springer Science and Business Media LLC. - 0391-4097 .- 1720-8386. ; 44:5, s. 1053-1063
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Tidskriftsartikel (refereegranskat)abstract
- Purpose We aimed to verify if 1 year-testosterone-replacement therapy could produce a psychopathological recovery and a satisfactory quality of life in Klinefelter syndrome (KS) patients compared to matched healthy controls. Further, we analyzed personality traits and coping strategies, an issue not yet examined in androgen-treated KS patients. We also enquired whether any of the sociodemographic and psychological variables might predict a patient's general and sexual life satisfaction. Methods The Quality of Life Enjoyment and Satisfaction Questionnaire and the Temperament and Character Inventory-Revised were administered to both 23 KS patients and matched healthy subjects. Psychopathology was investigated by the Symptom Checklist-90-Revised (SCL-90-R) and the Mini-mental State Examination. The COPE Inventory was used to identify cognitive and behavioral strategies to manage disease-related distress. Results In testosterone-treated KS patients, when compared with controls, SCL-90-R subscales analysis evidenced high psychological distress, mainly presented as obsessive thoughts, hanger-hostility, phobias, and psychoticism. Self-directedness and self-transcendence, along with the prevalent use ofemotion-focusedcoping strategies, outlined the personality of our KS patients. Depression and somatization proved to be predictors of general life dissatisfaction. Depression, anger-hostility, and paranoid ideation, instead, emerged as predictors of sexual life dissatisfaction. Conclusion Endocrinologists should cooperate with mental health providers to foster a better outcome of the disease in KS patients.
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| 3. |
- di Fraia, R., et al.
(författare)
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Increased prevalence of nodular thyroid disease in patients with Klinefelter syndrome
- 2023
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Ingår i: Endocrine. - 1355-008X. ; 81, s. 631-636
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Tidskriftsartikel (refereegranskat)abstract
- PurposeThyroid dysfunction in patients with Klinefelter syndrome (KS) remains an unresolved issue. Although low free thyroxine (FT4) levels within the normal range and normal thyroid stimulating hormone (TSH) levels have been reported, there is currently no data on nodular thyroid disease in this population. This study aims to evaluate the results of thyroid ultrasound (US) examinations in KS patients compared with healthy controls.MethodsA cohort of 122 KS and 85 age-matched healthy male controls underwent thyroid US screening and thyroid hormone analysis. According to US risk-stratification systems, nodules >= 1 cm were examined by fine needle aspiration (FNA).ResultsThyroid US detected nodular thyroid disease in 31% of KS compared to 13% of controls. No statistical differences in the maximum diameter of the largest nodules and in moderate and highly suspicious nodules were found between patients and the control group. Six KS patients and two controls with nodules underwent FNA and were confirmed as cytologically benign. In line with published data, FT4 levels were found significantly near the lower limit of the normal range compared to controls, with no differences in TSH values between the two groups. Hashimoto's thyroiditis was diagnosed in 9% of patients with KS.ConclusionsWe observed a significantly higher prevalence of nodular thyroid disease in KS compared to the control group. The increase in nodular thyroid disease is likely linked to low levels of FT4, inappropriate TSH secretion, and/or genetic instability.
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| 4. |
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| 5. |
- Pasquali, D., et al.
(författare)
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BROX haploinsufficiency in familial nonmedullary thyroid cancer
- 2021
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Ingår i: Journal of Endocrinological Investigation. - : Springer Science and Business Media LLC. - 0391-4097 .- 1720-8386. ; 44, s. 165-171
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Tidskriftsartikel (refereegranskat)abstract
- Background The familial nonmedullary thyroid cancer (FNMTC) is suspected to be a Mendelian condition in up to 3-8% of thyroid cancers. The susceptibility chromosomal loci and genes of 95% of FNMTC cases remain to be characterized. The inheritance of FNMTC appears to be autosomal dominant with incomplete penetrance and variable expressivity. The finding of the causative gene of FNMTC and the identification of patients at risk that need genetic testing were our aim. Methods We analyzed by whole-exome sequencing patients and non-affected relatives of five families with at least two family members affected by papillary thyroid cancer, selecting for new or extremely rare variants with predicted pathogenic value. Results A family showed, in all three affected members, a new loss-of-function variant (frameshift deletion) in BROX gene at 1q41 that was absent from all internal and external databases. In a second family with three affected relatives, we found an additional new BROX variant. The smaller families presented no variants in BROX or in the other causative genes studied. Conclusions BROX could be a new causative gene for FNMTC. Variants in BROX may result in the haploinsufficiency of a key gene involved in the morphogenesis of MVBs, in the endosomal sorting of cargo proteins, and in EGFR. Functional studies are needed to support this result. The thorough genomic analysis by NGS in all families with three or more affected members should become a routine approach to obtain a comprehensive genetic view and find confirmative second cases.
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| 6. |
- Accardo, G., et al.
(författare)
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Management of cardiovascular complications in Klinefelter syndrome patients
- 2019
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Ingår i: Expert Review of Endocrinology and Metabolism. - : Informa UK Limited. - 1744-6651 .- 1744-8417. ; 14:2, s. 145-152
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Klinefelter syndrome (KS), also known as 47, XXY, shows increased mortality when compared with mortality rates among the general population. Cardiovascular, hemostatic, metabolic diseases are implicated. Moreover, cardiac congenital anomalies in KS can contribute to the increase in mortality. Areas covered: In this study, we have systematically reviewed the relationships between KS and the cardiovascular system and the management of cardiovascular complication. In summary, patients with KS display increased cardiovascular risk profile, characterized by increased prevalence of metabolic alterations including dyslipidemia, diabetes mellitus (DM), and abnormalities in biomarkers of cardiovascular disease. KS subjects are characterized by subclinical abnormalities in endothelial function and in left ventricular (LV) systolic and diastolic function, which–when associated with chronotropic incompetence–may negatively influence cardiopulmonary performance. Moreover, KS patients appear to be at a higher risk for cardiovascular disease, due to thromboembolic events with high prevalence of recurrent venous ulcers, venous insufficiency, recurrent venous and arterial thromboembolism leading to deep venous thrombosis or pulmonary embolism. Expert opinion: Considering the unequivocal finding of increased mortality of KS patients, we suggest a periodic cardiovascular follow up in specialized centers with multidisciplinary care teams that comprise endocrinologists and cardiologists dedicated to KS syndrome. © 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group.
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| 7. |
- Esposito, Daniela, et al.
(författare)
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Patients with adrenal insufficiency have cardiovascular features associated with hypovolemia
- 2020
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Ingår i: Endocrine. - : Springer Science and Business Media LLC. - 1355-008X .- 1559-0100. ; 70, s. 412-420
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Tidskriftsartikel (refereegranskat)abstract
- Context Patients with adrenal insufficiency (AI) have excess mortality and morbidity, mainly due to cardiovascular (CV) diseases. The mechanisms for this is unclear. Objective To assess CV structure and function in AI patients on conventional replacement therapy and after switching to once-daily, modified-release hydrocortisone (OD-HC) in comparison with healthy matched controls. Methods This was a retrospective analysis of 17 adult AI patients (11 with primary AI, 6 with secondary AI) on stable replacement with cortisone acetate [median (minimum, maximum) 33.5 (12.5-50) mg] and, if needed, fludrocortisone [0.1 (0.05-0.2) mg], and 17 healthy matched controls. Ten patients were switched to an equivalent dose of OD-HC. Data from echocardiography, 24 h Holter-ECG and 24 h blood pressure monitoring were collected at baseline and 6 months after the switch to OD-HC. Results At baseline, AI patients had smaller left ventricular diastolic diameter (47.1 +/- 4.2 vs. 51.6 +/- 2.3 mm;P = 0.001) and left atrial diameter (34.9 +/- 4.7 vs. 38.2 +/- 2.6 cm;P = 0.018), and a higher ejection fraction (62.5 +/- 6.9% vs. 56.0 +/- 4.7%;P = 0.003) than controls. AI patients had lower nocturnal systolic and diastolic blood pressure than controls (108 +/- 15 mmHg vs. 117 +/- 8 mmHg;P = 0.038 and 65 +/- 9 mmHg vs. 73 +/- 7 mmHg;P = 0.008, respectively). After the switch to OD-HC, nocturnal diastolic blood pressure normalised. No significant changes were observed in echocardiographic and Holter-ECG parameters following the switch. Conclusions AI patients on conventional treatment display cardiovascular abnormalities that could be related to hypovolemia. Switch to OD-HC seems to have beneficial effect on blood pressure profile, but no effect on cardiovascular structure and function.
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| 8. |
- Larsson, Emanuel, et al.
(författare)
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Morphological characterization of the human calvarium in relation to the diploic and cranial thickness utilizing X-ray computed microtomography
- 2014
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Ingår i: 13th Mediterranean Conference on Medical and Biological Engineering and Computing 2013, MEDICON 2013; Seville; Spain; 25 September 2013 through 28 September 2013. - Cham : Springer. - 9783319008455 ; , s. 194-197
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Konferensbidrag (refereegranskat)abstract
- When attempting to establish accurate models for the human diploe, micro-scale morphological differences in the four main areas of the calvaria could also be considered. In this study, X-ray computed microtomography (μ-CT) images were analyzed in order to quantitatively characterize the micro-architecture of the human calvarium diploe. A bone specimen from each area of the skull (temporal, frontal, parietal and occipital) was extracted from a set of 5 human donors and each specimen was characterized in terms of density, specific surface area, trabecular thickness, trabecular spacing. The obtained results revealed that subject-individual structural differences could be related with the diploic as well as the total cranial thickness of the human skull bones. Some tendencies of dependency could also be made with respect to the age of the subject. A consideration of these individual variations can improve traditional models that assume equal conditions throughout the skull.
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| 9. |
- Larsson, E., et al.
(författare)
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Quantification of Structural Differences in the Human Calvarium Diploe by Means of X-ray Computed Microtomography Image Analysis : A Case Study
- 2012
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Ingår i: 5th European Conference of the International Federation for Medical and Biological Engineering. - Berlin, Heidelberg : Springer Berlin/Heidelberg. - 9783642235078 ; , s. 599-602
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Konferensbidrag (refereegranskat)abstract
- Accurate models for the human diploe have to take into account any structural differences in the four main areas of the calvaria bones. In this study the technique of X-ray computed microtomography (mu-CT) along with image analysis was used in order to visualize and quantitatively analyze differences in the micro-architecture of the human calvarium diploe. A bone specimen from each area of the skull (temporal, frontal, parietal and occipital) was extracted from a human donor and each specimen was characterized in terms of density, specific surface area, trabecular thickness and anisotropy. The obtained results reveal that in the considered case there are structural differences which therefore can be useful for refining traditional models that assume equal conditions throughout the skull.
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