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Il trattamento dell’ipotiroidismo si basa sulla somministrazione orale di levotiroxina. Recenti evidenze hanno documentato l’incapacita di garantire normali livelli tissutali di ormoni tiroidei. Inoltre, e emersa la parziale inadeguatezza del TSH come marcatore universale del compenso. Alcuni studi sono stati condotti con l’obiettivo di individuare marcatori tissutali piu informativi sul compenso periferico. Ad oggi, tuttavia, non sono stati identificati marcatori utili nella pratica clinica.

Context Although sexuality influences well-being and quality of life (QoL), studies on sexual dysfunction (SD) in adult growth hormone deficiency (AGHD) patients are lacking. Objective To investigate the prevalence of SD in AGHD patients grouped according to recombinant human growth hormone (r-hGH) therapy. Design Prospective, cross-over, 24 months, monocentric study. Setting Real-life clinical setting in a tertiary, endocrinological center. Patients 83 AGHD patients (31 women, 52 men, mean age 56.3 ± 14.7 years) were enrolled according to stringent criteria. Intervention(s) Patients already on long-term r-hGH therapy (Group 1, n = 32) vs untreated (Group 2, n = 51). Main outcome measure(s) Serum hormones, QoL Satisfaction in Hypopituitarism (QLS-H) and QoL Assessment of GHD in Adults (QoL-AGHDA) questionnaires for QoL, Index for Erectile Function-15 (IIEF-15) in men, and Female Sexual Function Index (FSFI) in women for SD. Results The overall prevalence of SD was 71.2% (60% men, 89% women). All IIEF-15 scores were lower (P = 0.001) and erectile dysfunction was more prevalent in Group 2 (75%) than Group 1 (35%). IGF-1 was correlated to scores of all IIEF-15 domains, particularly with that of erectile function (EF) (R2=0.123, P = 0.019). EF domain score correlated with QLS-H (P

This study aimed to evaluate the real-life use of BRAF-V600E mutation analysis in washout liquid from thyroid nodule fine needle aspiration (FNA), and the consequences of genetic result on clinical decision-making. We retrospectively considered subjects tested for BRAF-V600E among those attending the Endocrinology Unit of Modena for FNA between 2014 and 2018. Washing fluid was collected together with cytological sample and stored at −20 °C. If the clinician deemed it necessary, the sample was thawed, DNA extracted, and genetic test performed by high-resolution melting technique. We collected data on cytology according to the Italian Consensus for the cytological classification of thyroid nodules, type of surgery (when performed), histology, and adverse events. Out of 7112 subjects submitted to FNA, BRAF analysis was requested for 683 (9.6%). Overall, 896 nodules were analyzed: 74% were indeterminate at cytology, mainly TIR3A (low risk). Twenty-two nodules were mutant (BRAF+). Only 2% of indeterminate, mainly TIR3B, were BRAF+. Based on final histological diagnosis, BRAF test had high specificity (100%) but poor sensitivity (21%), also in indeterminate nodules. Mutant subjects underwent more extensive surgery compared to wild type (p = 0.000), with frequent prophylactic central lymph node dissection. One third had local metastases. Higher prevalence of hypoparathyroidism was found in BRAF+ compared to wild type (p = 0.018). The analysis of BRAF-V600E outside of gene panels has low sensitivity, especially in indeterminate nodules, and a positive result could lead to more extensive surgery with greater risk of hypoparathyroidism and questionable clinical utility.

Background: Adult growth hormone deficiency (AGHD) is a debilitating clinical condition leading to decreased quality of life (QoL). The impact of reduced muscle mass, weakening and loss of vitality on QoL have been well characterized in AGHD. The impact of AGHD on sexual function, a recognized factor able to modify well-being, has never been investigated. Aim: To investigate the prevalence of sexual dysfunction in AGHD patients referring to a single endocrinological center and grouped according to their history of r-hGH therapy.Methods: The Management of Adult Growth Hormone Deficiency (MAGHD) Study is a prospective, real-life trial aiming to improve management of AGHD patients through a smartphone app (MAGHD App) and a wearable device. The 83 AGHD enrolled patients (31 Females, 52 Males, mean age 56.27 + 14.68 years) were divided in 3 groups (G) according to r-hGH therapy: on long-term r-hGH therapy (G1, n=32), previously treated with r-hGH (G2, n=20), never treated (G3, n=31). Within the first phase of the study, a large database was created collecting clinical, biochemical and psychological data. In addition to QLS-H and QoL-AGHDA routinely used to assess QoL, IIEF-15 and FSFI were employed to evaluate sexual function in males and females, respectively. The nonparametric Kruskal-Wallis test was used for comparison among 3 groups.Results: Here only baseline data of the MAGHD Study are presented.According to IIEF-15 results, the prevalence of erectile dysfunction (ED) in male AGHD cohort was 60%. Erectile function (EF) score was significantly higher in G1 compared to both G2 and G3 (p < 0.05) with an ED prevalence of 35% in G1, 75% in G2 and 75% in G3. Even excluding patients with serum testosterone lower than 2 ng/ml and older than 65 years, ED prevalence did not change significantly in the 3 groups. Moreover, EF domain was inversely and directly correlated to age (R20.130, β-0.360) and IGF1 levels (R20.156, β0.395), respectively. The prevalence of female sexual dysfunction according to FSFI was 89.3%. Even though desire, arousal, lubrication and overall scores were significantly higher (better results) in G1 compared to G2 and G3 (p < 0.05), no correlation resulted between FSFI domains and IGF1 levels. Instead an inverse correlation resulted between desire domain and age.Conclusions: This study, performed in a real-life clinical setting, demonstrates a high prevalence of sexual dysfunction in AGHD patients and that r-hGH treatment seems to be associated to better sexual outcomes. These results suggest that the evaluation of sexual function should be integrated in the global assessment of AGHD patients since sexual activity is a fundamental domain able to influence both well-being and QoL.

Background. The need to re-test adults with negative thyroid ultrasound has not been elucidated yet. The aim of this study was to evaluate the incidence of thyroid disease in patients with previously negative thyroid US and to find any possible correlation with anamnestic or clinical features, and pituitary-thyroid axis function changes. Methods. Subjects who resulted without thyroid nodules in a screening study (1) were re-tested after at least 5 years. Anamnestic (familiarity, radiation therapy, previous pregnancies, smoking habit) and physical data (thyroid palpation, anthropometric measurements, blood pressure) were collected. Neck ultrasound evaluation was performed by an experienced endocrinologist who recorded detailed thyroid and nodules characteristics. When nodules were present, American Thyroid Association classification for prediction of thyroid cancer risk was applied. Serum samples were collected for measurement of TSH, free thyroid hormones, calcitonin and anti-thyroid antibodies. Clinical and anamnestic, physical, sonographic and serological characteristics were analyzed with logistic regression analysis for subjects with nodules versus those without nodules. Results. A total of 111 subjects were enrolled (43 M, 68 F). Half of them presented new thyroid nodules, mostly smaller than 1 cm and not suspicious. The 4% had high levels of anti-thyroid antibodies. Ninety-seven percent were euthyroid. Incidence of thyroid diseases was higher in women, especially in nulliparous. Comparing clinical characteristics of subjects with and without nodules, the only statistically significant difference concerned thyroid volume adjusted for body weight or surface (p

Background: Adult-onset growth hormone (GH) deficiency (AGHD) is related with alterations in body composition, increased abdominal and visceral adiposity, adverse change in lipid and carbohydrate metabolism, and reduction of bone mineral density (BMD). Aim: To compare body composition and biochemical/hormonal data among adult patients with AGHD referring to a single endocrinological center and grouped according to r-hGH therapy. Methods: The Manage Growth Hormone Deficiency Study (MAGHD) is a prospective, single-center trial aiming to improve AGHD management through a smartphone app (MAGHD App: Manage AGHD) integrated with a software framework able to merge several kind of patients’ daily data with clinical data collected in institutional databases. Up-to-now, a total of 74 subjects (26 Female, 48 Male, mean age: 56.6+14.8 years) with AGHD, fulfilling the inclusion criteria, were enrolled in the study. According to r-hGH therapy, they were divided in 3 groups: patients on long-term r-hGH therapy (Group 1, n=33), patients previously treated with r-hGH, who had stopped the therapy at any time (Group 2, n=18), patients never treated (Group 3, n=23). Each patient has completed the baseline visit, including biochemical and hormonal measurements and data on BMD and body composition obtained by DXA. The nonparametric Kruskal-Wallis test was used for comparison among 3 groups and data are expressed as median. Results: Mean duration of AGHD disease of the entire cohort was 121.2+105.8 months; it was lower in Group 3 compared to both Group 1 and 2 (p

Background and aim. Several ultrasound (US) classifications for thyroid nodules have been proposed. Since most of them are hardly applicable in clinical practice, we set up the Modena US Thyroid Classification (MUT) that stratifies the risk of malignancy based on knowledge derived from scientific literature and on clinician subjective impression. The aim of the present study was to test the diagnostic accuracy of different thyroid US classification systems, AACE/ACE-AME, American Thyroid Association (ATA), British Thyroid Association (BTA), and MUT, and to evaluate inter-classification agreement. Methods. We prospectively enrolled 111 patients (33M, 78F; age 19-75) with indeterminate, suspicious or malignant cytology. All the patients underwent neck US before surgery and a score according to MUT was assigned: 1 not certainly nodular; 2 not suspect; 3 indeterminate; 4 suspect; 5 very suspect. Then, we retrospectively classified nodules according to AACE/ACE-AME, ATA and BTA. US pattern was related to hystology. Sensitivity, specificity, diagnostic cut-off value and accuracy of each classification were calculated. The overall agreement between classifications was quantified by Bland-Altman test. The agreement between single nodule analysis by different classifications was evaluated considering Weighted Cohen's Kappa. Results. Fifteen patients had uninodular and 96 multinodular goiter, for a total of 457 nodules. MUT has the highest accuracy (AUC 0.808) and specificity (89%), followed by ATA and BTA, and finally by AACE/ACE-AME. ATA and BTA are highly interchangeable and MUT is comparable to both of them. AACE/ACE-AME is the least interchangeable with all the other classifications. Considering agreement between single nodule analysis by different classifications, ATA and BTA had the best (k=0.723); AACE/ACE-AME showed slight agreement with BTA (k=0.177) and MUT (k=0.183), and fair agreement with ATA (k=0.282); MUT had fair agreement with both ATA (k=0.291) and BTA (k=0.271). Conclusions. Our findings bring out the limit in specificity of the current reference classifications, which improves when the subjective impression of the clinician is considered.

Objective: The diagnostic accuracy of thyroid fine needle aspiration biopsy (FNAB) can be improved by the combination of cytological and molecular analysis. In this study, washing liquids of FNAB (wFNAB) were tested for the BRAF V600E mutation, using the sensitive and cost-effective technique called high-resolution melting (HRM). The aim was to demonstrate the feasibility of BRAF analysis in wFNAB and its diagnostic utility, combined with cytology. Design: Prospective cohort study. Methods: 481 patients, corresponding to 648 FNAB samples, were subjected to both cytological (on cells smeared onto a glass slide) and molecular analysis (on fluids obtained washing the FNAB needle with 1 ml of saline) of the same aspiration. BRAF V600E analysis was performed by HRM after methodological validation for application to wFNAB (technique sensitivity: 5.4%). Results: The cytological results of the FNAB were: 136 (21%) nondiagnostic (THY1); 415 (64%) benign (THY2); 80 (12.4%) indeterminate (THY3); 9 (1.4%) suspicious for malignancy (THY4); 8 (1.2%) diagnostic of malignancy (THY5). The BRAF V600E mutation was found in 5 THY2, 2 THY3, 6 THY4 and 6 THY5 samples. Papillary carcinoma diagnosis was histologically confirmed in all BRAF+ thyroidectomized patients. BRAF combined with cytology improved the diagnostic value compared to cytology alone in a subgroup of 74 operated patients. Conclusions: HRM was demonstrated to be a feasible method for BRAF analysis in wFNAB. Thanks to its sensitivity and cost-effectiveness, it might be routinely used on a large scale in clinical practice. In perspective, standby wFNAB samples could be analyzed a posteriori in case of indeterminate cytology and/or suspicious findings on ultrasound.