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Papers by Giacomo Accardo

Purpose: Thyroid dysfunction in patients with Klinefelter syndrome (KS) remains an unresolved iss... more Purpose: Thyroid 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. Methods: A 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). Results: Thyroid US detected nodular thyroid disease in 31% of KS compared to 1.3% 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 nodules underwent FNA and were confirmed as cytolog...

Medicina-lithuania, Jan 26, 2023

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Journal of Endocrinological Investigation

Background Klinefelter syndrome (KS) is frustratingly under-diagnosed. KS have a broad spectrum o... more Background Klinefelter syndrome (KS) is frustratingly under-diagnosed. KS have a broad spectrum of clinical features, making it difficult to identify. Objective We describe KS clinical presentation in a large Italian cohort. Design This is the first observational cohort study within a national network, the Klinefelter ItaliaN Group (KING). Primary outcomes were to describe the basic clinical features and the actual phenotype of KS in Italy. Secondary outcomes were to determine age at diagnosis and geographical distribution. Methods We performed a basic phenotyping and evaluation of the hormonal values of 609 adult KS patients. Results Mean age at diagnosis was 37.4 ± 13.4 years. The overall mean testicular size was 3 ml, and 2.5 ml in both testes in untreated KS group. BMI was 26.6 ± 5.8 kg/m2, and 25.5% of KS had metabolic syndrome (MetS). LH and FSH were increased, and mean total testosterone were 350 ± 9.1 ng/dl. A descriptive analysis showed that 329 KS patients were evaluated ...

Nutrients

Background: We investigated whether chronotype is associated with glycemic control, antidiabetic ... more Background: We investigated whether chronotype is associated with glycemic control, antidiabetic treatment, and risk of developing complications in patients with type 2 diabetes (T2DM). Methods: The diabetologists filled out an online questionnaire on the Google Form platform to collect the following parameters of subjects with T2DM: body mass index (BMI), fasting plasma glucose (FPG), glycosylated hemoglobin (HbA1c), diabetes history, antidiabetic treatment, diabetic complications, and chronotype categories. Results: We enrolled 106 subjects with T2DM (M/F: 58/48; age: 63.3 ± 10.4 years; BMI: 28.8 ± 4.9 kg/m2). Thirty-five point eight% of the subjects showed a morning chronotype (MC), 47.2% an intermediate chronotype (IC), and 17% an evening chronotype (EC). EC subjects reported significantly higher HbA1c (p < 0.001) and FPG (p = 0.004) values, and higher prevalence of cardiovascular complications (CVC) (p = 0.028) and of subjects taking basal (p < 0.001) and rapid insulin (p...

Journal of Endocrinological Investigation, 2019

The prevalence and the etiopathogenesis of thyroid dysfunctions in Klinefelter syndrome (KS) are ... more 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 genetic alterations or hormonal involvement. 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 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. These results suggest possible deiodinase impairment. The prevalence of HT in KS was similar to normal male population, showing absence of increased risk of HT associated with the XXY karyotype.

Journal of endocrinological investigation, 2013

Few data exist on the prevalence of female sexual dysfunction (FSD) in thyroid disorders. We eval... more Few data exist on the prevalence of female sexual dysfunction (FSD) in thyroid disorders. We evaluated FSD in women with thyroid diseases and in control age-matched healthy women to investigate the relationship between sexual function and thyroid hormones. One hundred and four women with thyroid diseases and 53 controls participated in the study. Eighteen with hyperthyroidism (Group 1), 22 hypothyroidism (Group 2), 45 Hashimoto's thyroiditis (Group 3), 19 nodular goiter (Group 4) underwent thyroid function evaluation and sonography. The Female Sexual Function Index (FSFI) assessed sexual function. The prevalence of FSD was 46.1% in thyroid diseases and 20.7% in controls. Only in Group 4, the prevalence (68.4%) was significantly higher than in controls (p<0.005). The mean total FSFI score was 20.1 ± 7.1 in women with thyroid diseases and 25.6 ± 4.7 in the controls (p<0.001). Compared with controls, there was a significant decrease of desire in Group 2; desire, arousal and l...

American Journal of Medical Genetics Part A

A 27 year old man with an history of persistent hyperthyroidism, had been referred to surgeon for... more A 27 year old man with an history of persistent hyperthyroidism, had been referred to surgeon for total thyroidectomy, but the procedure was delayed during the COVID-19 pandemic. He developed a nonpitting oedema on the pretibial region of both legs leading to diagnosis of thyroid dermopathy.

Journal of Endocrinological Investigation, 2020

Purpose We aimed to verify if 1 year-testosterone-replacement therapy could produce a psychopatho... more 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...

Endocrine Abstracts, 2019

Endocrine, Jun 14, 2017

Breast cancer patients (BCP) are at risk of female sexual dysfunction (FSD). Our aim was to clari... more Breast cancer patients (BCP) are at risk of female sexual dysfunction (FSD). Our aim was to clarify the effects of treatment strategies, and steroid hormones levels on FSD. We enrolled 136 BCP (46.9 ± 0.8 years), and 122 completed questionnaires. BCP were divided into four groups: 22 women with advanced breast cancer on neoadjuvant therapy (NAT), 48 on adjuvant therapy (AT), 30 taking hormonal therapy (HT) and 22 with metastatic cancer on first line chemotherapy (FLT). Fifty-eight healthy women (43 ± 2.8 years) were enrolled as controls. FSD was evaluated by FSFI, and sexual distress was assessed with FSDS-R. We have collected demographic data, laboratory values, and LH, FSH, total testosterone (T), and estradiol (E2) levels. BCP showed a prevalence of FSD of 69%, total FSFI score was 17. FSDS-R was 8.3. FSD had a prevalence of 72 % in NAT, 65% in AT, 77% in metastatic BCP under FLT, 67% in HT, compared with a prevalence of 20% in controls. BCP showed lower E2 than normal values, as...

European Journal of Inflammation, 2013

Type IIIb polyglandular autoimmune disease comprises autoimmune thyroid disease (HT) and chronic ... more Type IIIb polyglandular autoimmune disease comprises autoimmune thyroid disease (HT) and chronic atrophic gastritis (AIG). Hypergastrinemia, secondary to AIG, predisposes to gastric enterochromaffin-like cell (ECL) hyperplasia, a preneoplastic condition. We evaluated the prevalence of AIG, hypergastrinemia and ECL hyperplasia in HT patients. A secondary end-point was to assess the efficacy of treatment with a somatostatin analogue in HT patient with ECL hyperplasia. From 2009 to 2011, 146 HT patients were enrolled in a prospective study. All cases underwent hormonal profile, and parietal cell antibody (PCA), gastrin, and chromogranin A (CgA) serum level assays. Selected patients with elevated gastrin and CgA levels underwent gastro esophageal endoscopy (EGDS). Patients positive for ECL hyperplasia received Octreotide LAR 30 mg/ 28 days for 12 months. Gastrin and CgA assays were repeated every three months and EGDS after one year. The results show that gastrin and CgA were significantly higher than normal in 17/115 (14.7%) patients. Seven more HT had isolated PCA positivity and in the 17 PCA positive patients histology diagnosed AIG, corpus prevalent, with mild to moderate atrophy. Diffuse ECL hyperplasia of the gastric body was present in three subjects, one of them presenting a type-1 carcinoid. Gastrin and CgA levels were significantly reduced (p<0.01) after 3 months oftherapy with a somatostatin analogue and returned to normal after 1 year. ECL hyperplasia regressed in all three patients. We suggest that selected HT patients may need a more accurate surveillance for early signs of gastric EC risk. In the case of altered values of gastrin and in the presence of PCA positivity, EGDS and histology should be performed for an early diagnosis of AIG and treatment of ECL hyperplasia. AIG is a frequent and commonly underdiagnosed disease characterized by atrophy of the corpus and fundus of the stomach, and by the serum presence of autoantibodies at the parietal cell antibody assay

International journal of surgery (London, England), 2017

Medullary thyroid carcinoma (MTC) represents 3-5% of thyroid cancers. 75% is sporadic and 25% is ... more Medullary thyroid carcinoma (MTC) represents 3-5% of thyroid cancers. 75% is sporadic and 25% is the dominant component of the hereditary multiple endocrine neoplasia (MEN) type 2 syndromes. Three different subtypes of MEN2, such as MEN2A, MEN2B, and Familial MTC (FMTC) have been defined, based on presence or absence of hyperparathyroidism, pheocromocytoma and characteristic clinical features. Mutations of the RET proto-oncogene are implicated in the pathogenesis of MTC, but there are many other mutational patterns involved. In MEN2A, Codon 634 in exon 11 (Cys634Arg), corresponding to a cysteine in the extracellular cysteine-rich domain, is the most commonly altered codon. Many other mutations include codons 611, 618, 620. In the genetical testing of RET mutations in MTCs, Next-Generation Sequencing (NGS) is taking an increasingly important role. One of the most important benefit is the comprehensive analysis of molecular alterations in MTC, which allows rapidly to select patients w...

Journal of Endocrinological Investigation, 2016

AbstractBackgroundThe real efficacy of selenium supplementation in Hashimoto’s thyroiditis (HT) i... more AbstractBackgroundThe real efficacy of selenium supplementation in Hashimoto’s thyroiditis (HT) is still an unresolved issue.ObjectivesWe studied the short-term effect of l-selenomethionine on the thyroid function in euthyroid patients with HT. Our primary outcome measures were TSH, thyroid hormones, thyroid peroxidase antibody (TPOAb), thyroglobulin antibody (TGAb) levels and thyroid echogenicity after 6 months of l-selenomethionine treatment. The secondary outcome measure was serum CXCL10 levels. MethodsIn a placebo-controlled randomized prospective study, we have enrolled untreated euthyroid patients with HT. Seventy-six patients were randomly assigned to receive l-selenomethionine 166 µg/die (SE n = 38) or placebo (controls n = 38) for 6 months. TSH, free T4 (FT4), free T3 (FT3), TPOAb and CXCL10 serum levels were assayed at time 0, after 3 and 6 months. An ultrasound examination of the left and right thyroid lobe in transverse and longitudinal sections was performed. A rectangular region, the region of interest, was selected for analysis.ResultsTSH, FT4, FT3, TPOAb, thyroid echogenicity and CXCL10 were not statistically different between SE and control groups at time 0, after 3 and 6 months. In the SE group, FT4 levels were significantly decreased (P < 0.03) after 3 months, while FT3 increased (P < 0.04) after 3 and 6 months versus baseline values. In the control group, the FT3 decreased after 3 and 6 months (P < 0.02) compared to baseline.ConclusionThe short-term l-selenomethionine supplementation has a limited impact on the natural course in euthyroid HT. Our results tip the balance toward the ineffectiveness of short-term l-selenomethionine supplementation in HT.

European journal of endocrinology / European Federation of Endocrine Societies, Jan 5, 2016

Klinefelter Syndrome (KS) is the most frequently occurring sex chromosomal aberration in males, w... more Klinefelter Syndrome (KS) is the most frequently occurring sex chromosomal aberration in males, with an incidence of about 1 in 500 to 700 newborns. Data acquired from large registry-based studies revealed an increase in mortality rates among KS patients when compared with mortality rates among the general population. Among all causes of death, metabolic, cardiovascular and hemostatic complication seem to play a pivotal role. KS is associated, as are other chromosomal pathologies and genetic diseases, with cardiac congenital anomalies that contribute to the increase in mortality. Aim of the current study was to systematically review the relationships between KS and the cardiovascular system and hemostatic balance. In summary, patients with KS display an increased cardiovascular risk profile, characterized by increased prevalence of metabolic abnormalities including DM, dyslipidemia and alterations in biomarkers of cardiovascular disease. KS does not, however, appear to be associated...

Il Giornale di chirurgia

Multiple endocrine neoplasia syndromes have since been classified as types 1 and 2, each with spe... more Multiple endocrine neoplasia syndromes have since been classified as types 1 and 2, each with specific phenotypic patterns. MEN1 is usually associated with pituitary, parathyroid and paraneoplastic neuroendocrine tumours. The hallmark of MEN2 is a very high lifetime risk of developing medullary thyroid carcinoma (MTC) more than 95% in untreated patients. Three clinical subtypesdMEN2A, MEN2B, and familial MTC (FMTC) have been defined based on the risk of pheochromocytoma, hyperparathyroidism, and the presence or absence of characteristic physical features). MEN2 occurs as a result of germline activating missense mutations of the RET (REarranged during Transfection) proto-oncogene. MEN2-associated mutations are almost always located in exons 10, 11, or 13 through 16. Strong genotype-phenotype correlations exist with respect to clinical subtype, age at onset, and aggressiveness of MTC in MEN2. These are used to determine the age at which prophylactic thyroidectomy should occur and whet...

Journal of Endocrinological Investigation, 2020

Background The familial nonmedullary thyroid cancer (FNMTC) is suspected to be a Mendelian condit... more 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.

Minerva Chirurgica, 2014

detectable mutation in the MEN1 gene, have been described as showing a mutation in the CDKN1B gen... more detectable mutation in the MEN1 gene, have been described as showing a mutation in the CDKN1B gene. These !ndings support an as-sociation between germline mutations of CD-KN1B and a MEN1 syndrome condition and suggest the need to search for new genes im-plicated in neuroendocrine tumor syndromes involving PHEO. K

Klinefelter's syndrome (KS) is the most common sex-chromosome male disorder, characterized by one... more Klinefelter's syndrome (KS) is the most common sex-chromosome male disorder, characterized by one or more extra X chromosomes. It is associated with a significant increase of cardiovascular mortality and morbidity. This review examines cardiovascular (CV) abnormalities known in KS until now. KS is associated with both functional and structural CV alterations, particularly KS patients show a wide range of CV abnormalities, specifically LV diastolic dysfunction, impaired exercise performance, Chronotropic Incompetence (CI), and increased carotid intima-media thickness (IMT). Regarding diastolic function, they display an increased Isovolumetric Relaxation Time (IVRT) but no prolongation of Mitral deceleration Time (MdT). This condition indicates the presence of a mild diastolic dysfunction. KS patients also have an exercise intolerance, that depends on reduced stroke volume during exercise, caused by the limited increase in the LV end-diastolic volume despite normal ejection fraction and the increased LV filling pressure and left atrial pressure during exercise. Patients with KS also display a significant increase of carotid IMT, a surrogate marker of atherosclerotic disease. This alteration represents a subclinical marker of early atherosclerosis and is the most important risk factor of new or recurrent stroke and myocardial infarction. Testosterone replacement Klinefelter's syndrome and cardiovascular disease therapy does not normalize the impaired cardiovascular parameters. This wide range of CV abnormalities represents the pathophysiological underpinnings for the raised mortality observed in KS.

Purpose: Thyroid dysfunction in patients with Klinefelter syndrome (KS) remains an unresolved iss... more Purpose: Thyroid 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. Methods: A 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). Results: Thyroid US detected nodular thyroid disease in 31% of KS compared to 1.3% 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 nodules underwent FNA and were confirmed as cytolog...

Medicina-lithuania, Jan 26, 2023

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Journal of Endocrinological Investigation

Background Klinefelter syndrome (KS) is frustratingly under-diagnosed. KS have a broad spectrum o... more Background Klinefelter syndrome (KS) is frustratingly under-diagnosed. KS have a broad spectrum of clinical features, making it difficult to identify. Objective We describe KS clinical presentation in a large Italian cohort. Design This is the first observational cohort study within a national network, the Klinefelter ItaliaN Group (KING). Primary outcomes were to describe the basic clinical features and the actual phenotype of KS in Italy. Secondary outcomes were to determine age at diagnosis and geographical distribution. Methods We performed a basic phenotyping and evaluation of the hormonal values of 609 adult KS patients. Results Mean age at diagnosis was 37.4 ± 13.4 years. The overall mean testicular size was 3 ml, and 2.5 ml in both testes in untreated KS group. BMI was 26.6 ± 5.8 kg/m2, and 25.5% of KS had metabolic syndrome (MetS). LH and FSH were increased, and mean total testosterone were 350 ± 9.1 ng/dl. A descriptive analysis showed that 329 KS patients were evaluated ...

Nutrients

Background: We investigated whether chronotype is associated with glycemic control, antidiabetic ... more Background: We investigated whether chronotype is associated with glycemic control, antidiabetic treatment, and risk of developing complications in patients with type 2 diabetes (T2DM). Methods: The diabetologists filled out an online questionnaire on the Google Form platform to collect the following parameters of subjects with T2DM: body mass index (BMI), fasting plasma glucose (FPG), glycosylated hemoglobin (HbA1c), diabetes history, antidiabetic treatment, diabetic complications, and chronotype categories. Results: We enrolled 106 subjects with T2DM (M/F: 58/48; age: 63.3 ± 10.4 years; BMI: 28.8 ± 4.9 kg/m2). Thirty-five point eight% of the subjects showed a morning chronotype (MC), 47.2% an intermediate chronotype (IC), and 17% an evening chronotype (EC). EC subjects reported significantly higher HbA1c (p < 0.001) and FPG (p = 0.004) values, and higher prevalence of cardiovascular complications (CVC) (p = 0.028) and of subjects taking basal (p < 0.001) and rapid insulin (p...

Journal of Endocrinological Investigation, 2019

The prevalence and the etiopathogenesis of thyroid dysfunctions in Klinefelter syndrome (KS) are ... more 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 genetic alterations or hormonal involvement. 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 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. These results suggest possible deiodinase impairment. The prevalence of HT in KS was similar to normal male population, showing absence of increased risk of HT associated with the XXY karyotype.

Journal of endocrinological investigation, 2013

Few data exist on the prevalence of female sexual dysfunction (FSD) in thyroid disorders. We eval... more Few data exist on the prevalence of female sexual dysfunction (FSD) in thyroid disorders. We evaluated FSD in women with thyroid diseases and in control age-matched healthy women to investigate the relationship between sexual function and thyroid hormones. One hundred and four women with thyroid diseases and 53 controls participated in the study. Eighteen with hyperthyroidism (Group 1), 22 hypothyroidism (Group 2), 45 Hashimoto's thyroiditis (Group 3), 19 nodular goiter (Group 4) underwent thyroid function evaluation and sonography. The Female Sexual Function Index (FSFI) assessed sexual function. The prevalence of FSD was 46.1% in thyroid diseases and 20.7% in controls. Only in Group 4, the prevalence (68.4%) was significantly higher than in controls (p<0.005). The mean total FSFI score was 20.1 ± 7.1 in women with thyroid diseases and 25.6 ± 4.7 in the controls (p<0.001). Compared with controls, there was a significant decrease of desire in Group 2; desire, arousal and l...

American Journal of Medical Genetics Part A

A 27 year old man with an history of persistent hyperthyroidism, had been referred to surgeon for... more A 27 year old man with an history of persistent hyperthyroidism, had been referred to surgeon for total thyroidectomy, but the procedure was delayed during the COVID-19 pandemic. He developed a nonpitting oedema on the pretibial region of both legs leading to diagnosis of thyroid dermopathy.

Journal of Endocrinological Investigation, 2020

Purpose We aimed to verify if 1 year-testosterone-replacement therapy could produce a psychopatho... more 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...

Endocrine Abstracts, 2019

Endocrine, Jun 14, 2017

Breast cancer patients (BCP) are at risk of female sexual dysfunction (FSD). Our aim was to clari... more Breast cancer patients (BCP) are at risk of female sexual dysfunction (FSD). Our aim was to clarify the effects of treatment strategies, and steroid hormones levels on FSD. We enrolled 136 BCP (46.9 ± 0.8 years), and 122 completed questionnaires. BCP were divided into four groups: 22 women with advanced breast cancer on neoadjuvant therapy (NAT), 48 on adjuvant therapy (AT), 30 taking hormonal therapy (HT) and 22 with metastatic cancer on first line chemotherapy (FLT). Fifty-eight healthy women (43 ± 2.8 years) were enrolled as controls. FSD was evaluated by FSFI, and sexual distress was assessed with FSDS-R. We have collected demographic data, laboratory values, and LH, FSH, total testosterone (T), and estradiol (E2) levels. BCP showed a prevalence of FSD of 69%, total FSFI score was 17. FSDS-R was 8.3. FSD had a prevalence of 72 % in NAT, 65% in AT, 77% in metastatic BCP under FLT, 67% in HT, compared with a prevalence of 20% in controls. BCP showed lower E2 than normal values, as...

European Journal of Inflammation, 2013

Type IIIb polyglandular autoimmune disease comprises autoimmune thyroid disease (HT) and chronic ... more Type IIIb polyglandular autoimmune disease comprises autoimmune thyroid disease (HT) and chronic atrophic gastritis (AIG). Hypergastrinemia, secondary to AIG, predisposes to gastric enterochromaffin-like cell (ECL) hyperplasia, a preneoplastic condition. We evaluated the prevalence of AIG, hypergastrinemia and ECL hyperplasia in HT patients. A secondary end-point was to assess the efficacy of treatment with a somatostatin analogue in HT patient with ECL hyperplasia. From 2009 to 2011, 146 HT patients were enrolled in a prospective study. All cases underwent hormonal profile, and parietal cell antibody (PCA), gastrin, and chromogranin A (CgA) serum level assays. Selected patients with elevated gastrin and CgA levels underwent gastro esophageal endoscopy (EGDS). Patients positive for ECL hyperplasia received Octreotide LAR 30 mg/ 28 days for 12 months. Gastrin and CgA assays were repeated every three months and EGDS after one year. The results show that gastrin and CgA were significantly higher than normal in 17/115 (14.7%) patients. Seven more HT had isolated PCA positivity and in the 17 PCA positive patients histology diagnosed AIG, corpus prevalent, with mild to moderate atrophy. Diffuse ECL hyperplasia of the gastric body was present in three subjects, one of them presenting a type-1 carcinoid. Gastrin and CgA levels were significantly reduced (p<0.01) after 3 months oftherapy with a somatostatin analogue and returned to normal after 1 year. ECL hyperplasia regressed in all three patients. We suggest that selected HT patients may need a more accurate surveillance for early signs of gastric EC risk. In the case of altered values of gastrin and in the presence of PCA positivity, EGDS and histology should be performed for an early diagnosis of AIG and treatment of ECL hyperplasia. AIG is a frequent and commonly underdiagnosed disease characterized by atrophy of the corpus and fundus of the stomach, and by the serum presence of autoantibodies at the parietal cell antibody assay

International journal of surgery (London, England), 2017

Medullary thyroid carcinoma (MTC) represents 3-5% of thyroid cancers. 75% is sporadic and 25% is ... more Medullary thyroid carcinoma (MTC) represents 3-5% of thyroid cancers. 75% is sporadic and 25% is the dominant component of the hereditary multiple endocrine neoplasia (MEN) type 2 syndromes. Three different subtypes of MEN2, such as MEN2A, MEN2B, and Familial MTC (FMTC) have been defined, based on presence or absence of hyperparathyroidism, pheocromocytoma and characteristic clinical features. Mutations of the RET proto-oncogene are implicated in the pathogenesis of MTC, but there are many other mutational patterns involved. In MEN2A, Codon 634 in exon 11 (Cys634Arg), corresponding to a cysteine in the extracellular cysteine-rich domain, is the most commonly altered codon. Many other mutations include codons 611, 618, 620. In the genetical testing of RET mutations in MTCs, Next-Generation Sequencing (NGS) is taking an increasingly important role. One of the most important benefit is the comprehensive analysis of molecular alterations in MTC, which allows rapidly to select patients w...

Journal of Endocrinological Investigation, 2016

AbstractBackgroundThe real efficacy of selenium supplementation in Hashimoto’s thyroiditis (HT) i... more AbstractBackgroundThe real efficacy of selenium supplementation in Hashimoto’s thyroiditis (HT) is still an unresolved issue.ObjectivesWe studied the short-term effect of l-selenomethionine on the thyroid function in euthyroid patients with HT. Our primary outcome measures were TSH, thyroid hormones, thyroid peroxidase antibody (TPOAb), thyroglobulin antibody (TGAb) levels and thyroid echogenicity after 6 months of l-selenomethionine treatment. The secondary outcome measure was serum CXCL10 levels. MethodsIn a placebo-controlled randomized prospective study, we have enrolled untreated euthyroid patients with HT. Seventy-six patients were randomly assigned to receive l-selenomethionine 166 µg/die (SE n = 38) or placebo (controls n = 38) for 6 months. TSH, free T4 (FT4), free T3 (FT3), TPOAb and CXCL10 serum levels were assayed at time 0, after 3 and 6 months. An ultrasound examination of the left and right thyroid lobe in transverse and longitudinal sections was performed. A rectangular region, the region of interest, was selected for analysis.ResultsTSH, FT4, FT3, TPOAb, thyroid echogenicity and CXCL10 were not statistically different between SE and control groups at time 0, after 3 and 6 months. In the SE group, FT4 levels were significantly decreased (P < 0.03) after 3 months, while FT3 increased (P < 0.04) after 3 and 6 months versus baseline values. In the control group, the FT3 decreased after 3 and 6 months (P < 0.02) compared to baseline.ConclusionThe short-term l-selenomethionine supplementation has a limited impact on the natural course in euthyroid HT. Our results tip the balance toward the ineffectiveness of short-term l-selenomethionine supplementation in HT.

European journal of endocrinology / European Federation of Endocrine Societies, Jan 5, 2016

Klinefelter Syndrome (KS) is the most frequently occurring sex chromosomal aberration in males, w... more Klinefelter Syndrome (KS) is the most frequently occurring sex chromosomal aberration in males, with an incidence of about 1 in 500 to 700 newborns. Data acquired from large registry-based studies revealed an increase in mortality rates among KS patients when compared with mortality rates among the general population. Among all causes of death, metabolic, cardiovascular and hemostatic complication seem to play a pivotal role. KS is associated, as are other chromosomal pathologies and genetic diseases, with cardiac congenital anomalies that contribute to the increase in mortality. Aim of the current study was to systematically review the relationships between KS and the cardiovascular system and hemostatic balance. In summary, patients with KS display an increased cardiovascular risk profile, characterized by increased prevalence of metabolic abnormalities including DM, dyslipidemia and alterations in biomarkers of cardiovascular disease. KS does not, however, appear to be associated...

Il Giornale di chirurgia

Multiple endocrine neoplasia syndromes have since been classified as types 1 and 2, each with spe... more Multiple endocrine neoplasia syndromes have since been classified as types 1 and 2, each with specific phenotypic patterns. MEN1 is usually associated with pituitary, parathyroid and paraneoplastic neuroendocrine tumours. The hallmark of MEN2 is a very high lifetime risk of developing medullary thyroid carcinoma (MTC) more than 95% in untreated patients. Three clinical subtypesdMEN2A, MEN2B, and familial MTC (FMTC) have been defined based on the risk of pheochromocytoma, hyperparathyroidism, and the presence or absence of characteristic physical features). MEN2 occurs as a result of germline activating missense mutations of the RET (REarranged during Transfection) proto-oncogene. MEN2-associated mutations are almost always located in exons 10, 11, or 13 through 16. Strong genotype-phenotype correlations exist with respect to clinical subtype, age at onset, and aggressiveness of MTC in MEN2. These are used to determine the age at which prophylactic thyroidectomy should occur and whet...

Journal of Endocrinological Investigation, 2020

Background The familial nonmedullary thyroid cancer (FNMTC) is suspected to be a Mendelian condit... more 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.

Minerva Chirurgica, 2014

detectable mutation in the MEN1 gene, have been described as showing a mutation in the CDKN1B gen... more detectable mutation in the MEN1 gene, have been described as showing a mutation in the CDKN1B gene. These !ndings support an as-sociation between germline mutations of CD-KN1B and a MEN1 syndrome condition and suggest the need to search for new genes im-plicated in neuroendocrine tumor syndromes involving PHEO. K

Klinefelter's syndrome (KS) is the most common sex-chromosome male disorder, characterized by one... more Klinefelter's syndrome (KS) is the most common sex-chromosome male disorder, characterized by one or more extra X chromosomes. It is associated with a significant increase of cardiovascular mortality and morbidity. This review examines cardiovascular (CV) abnormalities known in KS until now. KS is associated with both functional and structural CV alterations, particularly KS patients show a wide range of CV abnormalities, specifically LV diastolic dysfunction, impaired exercise performance, Chronotropic Incompetence (CI), and increased carotid intima-media thickness (IMT). Regarding diastolic function, they display an increased Isovolumetric Relaxation Time (IVRT) but no prolongation of Mitral deceleration Time (MdT). This condition indicates the presence of a mild diastolic dysfunction. KS patients also have an exercise intolerance, that depends on reduced stroke volume during exercise, caused by the limited increase in the LV end-diastolic volume despite normal ejection fraction and the increased LV filling pressure and left atrial pressure during exercise. Patients with KS also display a significant increase of carotid IMT, a surrogate marker of atherosclerotic disease. This alteration represents a subclinical marker of early atherosclerosis and is the most important risk factor of new or recurrent stroke and myocardial infarction. Testosterone replacement Klinefelter's syndrome and cardiovascular disease therapy does not normalize the impaired cardiovascular parameters. This wide range of CV abnormalities represents the pathophysiological underpinnings for the raised mortality observed in KS.