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Osteoporosis represents a relevant cause of morbidity in adult Thalassemia Major (TM) population. Antiresorptive drugs such as bisphosphonates were demonstrated effective in preventing bone loss. Teriparatide (TP) is an anabolic agent approved for osteoporosis management in the general population, but its use has been very limited in TM patients so far. We evaluated TP efficacy and safety in TM-associated osteoporosis in real-life clinical practice. Retrospective evaluation of 11 TM patients (6 males, 5 females; mean age = 45 ± 4.38 years) with severe osteoporosis and multiple fractures under TP treatment. Mean TP treatment duration was 19 ± 7 months. TP withdrawal was due to poor compliance and side effects (fever and osteo-muscular pain) in two and three patients, respectively. After 12 and 24 months, BMD significantly increased at lumbar (+ 19% and 22%) and femoral sites (+ 13% and 13%). Osteocalcin and cross-laps levels increased after 12 and 24 months (+ 225 and + 54.2%; + 159 and 141%, respectively). No new fractures were detected during TP treatment. Baseline VAS score values (3 ± 3) did not significantly change after 12 and 24 months (3 ± 3 and 2 ± 3, respectively). Five out of eleven patients developed side effects. TP might be an effective treatment for TM-associated osteoporosis since it improves BMD, especially at the lumbar spine, and prevents fragility fractures. TM patients may have a higher frequency of side effects, especially muscle and bone pain under TP treatment, as compared to no TM population. Further studies are needed., (© 2022. The Author(s).)

Objective: Despite the increasing incidence rate of vestibular schwannomas (VS), controversies in their management are still present., Methods: A 35-item multiple-choice survey investigating the current practice patterns of VS care was sent to the members of the Italian Society of Otolaryngology, Head and Neck Surgery (SIO) and of the Italian Society of Neurosurgery (SINCH)., Results: Among 66 respondents, 37 (56.0%) claimed to be actively involved in VS management. Most interviewees (35.1%) declared > 20 years of experience and 59.5% claimed to work in an academic practice. The number of cases evaluated in each centre per year varied widely, with 54.0% evaluating > 25 cases/year and only 13.6% > 100 cases/year. Multidisciplinary care for VS evaluation was confirmed by 50.0% of respondents, and multidisciplinary surgical care by 62.2%. Observation and surgery were the most common management options proposed. Further details regarding VS care are presented., Conclusions: The present study provides the first overview on the current practice patterns of VS care in Italy. Although integrated in most centres, a multidisciplinary model of care needs to be encouraged. Wide heterogeneity in experience and practices is mostly influenced by the surgeon's different specialties and by the lack of shared guidelines., (Copyright © 2021 Società Italiana di Otorinolaringoiatria e Chirurgia Cervico-Facciale, Rome, Italy.)

A 14-year-old boy with a 46,XY karyotype and persistent breast-3-stage gynecomastia is reported. The reproductive axis was investigated by standard laboratory methods and the androgen receptor (AR) gene was sequenced. Also, a literature review of phenotypes associated with the AR genetic variant p.Pro392Ser was performed. The boy presented with height in the upper normal range (+1.9 SDS) and normal body mass index (-0,3 SDS); pubertal development was PH5/G4 (mean testicular volume 15 mL; 0 SDS). Laboratory findings were normal for age and sex, except aromatization index (0.09; reference range 0.03-0.07). Analysis of the AR gene showed the single nucleotide variant c.1174C>T (p.Pro392Ser) in exon 1, leading to the diagnosis of minimal androgen insensitivity syndrome (AIS). This genetic variant is reported in other 8 patients with AIS and is associated with variable clinical phenotypes ranging from complete to partial and minimal AIS. To the best of our knowledge, this is the first adolescent in whom the p.Pro392Ser mutation is associated with isolated persistent gynecomastia. The underlying reason of phenotypic variability due to this AR mutation remains unknown. Persistent gynecomastia due to minimal AIS has been reported in few additional males with variable AR mutations. Since fertility troubles may occur in adult men with minimal AIS, early diagnosis can allow optimizing the clinical management., (© 2021 S. Karger AG, Basel.)

Purpose: The evaluation of Health-Related Quality of Life (HRQoL) in patients with chronic otitis media COM has gained attention over the past years and several questionnaires have been developed to evaluate it in affected patients. The Chronic Otitis Media Questionnaire 12 (COMQ-12) is a widely used disease-specific tool that evaluates the severity of symptoms, the specific impact on work and lifestyle, the effects on the health service, and general impact of the disease in patients with COM. The COMQ-12 questionnaire has been translated and validated into different languages; however, an Italian version is not yet available. The aim of this original study was to translate the COMQ-12 questionnaire into the Italian language and validate this new Italian language version in Italian-speaking patients with COM., Methods: The COMQ-12 was translated into Italian (COMQ-12-It) following international guidelines. Validation was performed comparing and correlating COMQ-12-It with (1) a question that addresses HRQoL, and (2) the results of a generic questionnaire assessing HRQoL, namely the EQ-5D-5L questionnaire., Results: Forty-eight patients with COM were included in the study. Cronbach's alpha was 0.80 indicating a high reliability. There was a strong positive correlation between the question that directly addressed HRQoL and total score (correlation coefficient = 0.62), while the regression analysis between total score of COMQ-12-It and EQ-5D-5L showed a positive relation but only a weak positive correlation (correlation coefficient 0.36)., Conclusions: Our study showed evidence that the Italian version of the COMQ-12 questionnaire is a valid and reliable tool to evaluate HRQoL in Italian-speaking patients with COM.