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...

Pathogenic genetic variants in epigenetic regulatory proteins can cause overgrowth syndromes, such as Sotos syndrome due to mutations in NSD1 or Weaver syndrome due to mutations in EZH2. The identified genes encode DNA or histone methyltransferases, primarily serving as epigenetic writers. However, no overgrowth disorder has previously been described in a gene that acts primarily as an epigenetic reader. We studied a 13-year-old male patient with generalized overgrowth of pren...

Objectives: Fibrous dysplasia (FD) is a rare disorder resulting in fractures, pain, and skeletal deformities. Abnormal osteoprogenitor cells produce excess FGF23, leading to hyperphosphaturia in most patients and frank hypophosphatemia in a smaller subset. Studies suggest that FGF23-mediated hypophosphatemia is associated with increased FD-related morbidity. However, the relationship between serum phosphorus levels and skeletal complications has not been inves...

Duchenne and Becker’s Muscular Dystrophy are X-linked progressive muscular disorders caused by mutations in dystrophin, leading to progressive muscle weakness. Glucocorticoids prolong ambulation and lifespan but cause significant endocrine complications. We assessed the prevalence of growth impairment, pubertal delay, and osteoporosis, along with the impact of growth hormone (GH), testosterone, and/or bisphosphonate in a longitudinal study of 27 males with dystrophinopat...