Purpose: The screening test to suspect infantile hypercalcemia-1 (HCINF1) is the measure of 25(OH)D/24,25(OH)D ratio at mass spectroscopy (MS). When the ratio is > 80, the gold standard for the diagnosis is genetic analysis. Given its limited availability, MS may not represent a screening test and most cases of HCINF1 remain undiagnosed.
View Article and Find Full Text PDFJ Endocrinol Invest
February 2024
Introduction: Amiodarone-induced thyrotoxicosis is associated with high morbidity and mortality rates. The approach to this condition is widely variable across different medical specialists and even among expert endocrinologists. As a matter of fact, the approach to amiodarone-induced thyrotoxicosis has always been considered difficult, due to diagnostic uncertainties easily resulting in missteps, and therapeutic challenges easily resulting in unresponsiveness or slow-responsiveness to the administered drugs.
View Article and Find Full Text PDFObjectives: To explore the role of conventional X-ray imaging in detecting vertebral fractures (VFs) in patients with acromegaly, both at diagnosis of disease and at the last clinical visit. The risk factors for VFs were also evaluated.
Design And Methods: A retrospective cohort study was conducted on 60 consecutive patients with acromegaly, in a tertiary referral centre.
Context: Patients with amiodarone-induced thyrotoxicosis (AIT) often receive initial therapy for thyrotoxicosis in several different medical settings before admission to a referral center.
Objective: This work aimed to determine whether first-line medical therapy (ie, therapies for thyrotoxicosis at first diagnosis of AIT) affects the outcome of AIT patients.
Methods: A single-center historical-prospective cohort study was conducted on 313 AIT patients.
Fewer than 100 cases of amiodarone-induced thyrotoxicosis (AIT) managed surgically have been reported worldwide. This study aims to assess the outcome of thyroidectomy under general anesthesia in a relatively large case series. A retrospective analysis of the clinical records of 53 patients who underwent thyroidectomy for AIT between 1995 and 2019 was conducted.
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