IMPE Abstracts

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CaSR) gene, is characterized by low parathyroid hormone (PTH), hypocalcemia, hypercalciuria, hyperphosphatemia, and hypomagnesemia. Patients usually present in childhood, at a median age of 4y, often with severe symptoms of hypocalcemia. Conventional therapy (calcium and active vitamin D) worsens hypercalciuria and can lead to renal morbidity. Calcilytics that ac...

Introduction: Thyroid nodules (TN) in childhood are infrequent, however, malignancy is reported in around 25%. Thyroid cancer is the most common endocrine malignancy in this age and has clinical, histopathological and molecular differences compared to adults. Fine needle aspiration biopsy (FNAB) is a sensitive test in the pediatric population to exclude malignancy, however, the implied malignancy risk in each reported category is extrapolated to adult populati...