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- Esposito, Daniela, et al.
(författare)
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Incidence of Benign and Malignant Tumors in Patients with Acromegaly is Increased: a Nationwide Population-Based Study.
- 2021
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Ingår i: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 106:12, s. 3487-3496
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Tidskriftsartikel (refereegranskat)abstract
- Whether cancer risk in acromegaly is increased remains controversial. Also, the risk of benign tumors has been little studied.To investigate the incidence of benign and malignant tumors in acromegaly in a nationwide population-based study.Adult patients diagnosed with acromegaly between 1987 and 2017 were identified in the Swedish National Patient Registry. The diagnoses of benign and malignant tumors were recorded. Standardized incidence ratios (SIRs) and standardized mortality ratios (SMRs) for neoplasms with 95% confidence intervals (CIs) were calculated using the Swedish general population as reference.The study included 1296 patients (52% women). Mean (SD) age at diagnosis was 51.6 (14.7) years. Median (range) follow-up time was 11.7 (0-31) years. Overall, 186 malignancies were identified in acromegalic patients compared to 144 expected in the general population (SIR 1.3; 95% CI, 1.1-1.5). The incidence of colorectal and anal cancer (SIR 1.5; 95% CI, 1.0-2.2), and renal and ureteral cancer (SIR 4.0; 95% CI, 2.3-6.5) was increased, whereas the incidence of malignancies of the respiratory system, brain, prostate, and breast was not. Only three cases of thyroid cancer were recorded. Mortality due to malignancies was not increased (SMR 1.1; 95% CI, 0.9-1.4). Incidence of benign tumors was increased more than 2-fold (SIR 2.4; 95% CI, 2.1-2.7).Patients with acromegaly had an increased risk of both benign and malignant tumors including colorectal and anal cancer, and renal and ureteral cancer. Whether this is associated with acromegaly itself or due to more intensive medical surveillance remains to be shown.
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- 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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- 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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- Vouzouneraki, Konstantina, et al.
(författare)
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Carpal tunnel syndrome in acromegaly: a nationwide study.
- 2021
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Ingår i: European journal of endocrinology. - : Bioscientifica. - 1479-683X .- 0804-4643. ; 184:2, s. 209-216
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Tidskriftsartikel (refereegranskat)abstract
- Carpal tunnel syndrome (CTS) is common in patients with acromegaly, with a reported prevalence of 19-64%. We studied CTS in a large national cohort of patients with acromegaly and the temporal relationship between the two diagnoses.Retrospective, nationwide, cohort study including patients diagnosed with acromegaly in Sweden, 2005-2017, identified in the Swedish Healthcare Registries.CTS (diagnosis and surgery in specialised healthcare) was analysed from 8.5 years before the diagnosis of acromegaly until death or end of the study. Standardised incidence ratios (SIRs) with 95% confidence intervals were calculated for CTS with the Swedish population as reference.The analysis included 556 patients with acromegaly (50% women) diagnosed at mean (SD) age 50.1 (15.0) years. During the study period, 48 patients were diagnosed with CTS and 41 patients underwent at least one CTS surgery. Among the latter group, 35 (85%) were operated for CTS before the acromegaly diagnosis; mean interval (range) 2.2 (0.3-8.5) years and the SIR for having CTS surgery before the diagnosis of acromegaly was 6.6 (4.8-8.9). Women with acromegaly had a higher risk for CTS than men (hazard ratio 2.5, 95% CI 1.3-4.7).Patients with acromegaly had a 6-fold higher incidence for CTS surgery before the diagnosis of acromegaly compared with the general population. The majority of patients with both diagnoses were diagnosed with CTS prior to acromegaly. Increased awareness of signs of acromegaly in patients with CTS might help to shorten the diagnostic delay in acromegaly, especially in women.
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