Endocrine Abstracts

Case history: A 37-year-old female presented to her GP with myalgia, lethargy and weight gain. Of note she was 24 months post-partum and had not experienced thyroid problems in either of her two pregnancies. On examination she was overweight with marked myxoedema and proximal myopathy.Investigations: Serum TSH was greatly elevated at 206 mIU/l and free T4 was undetectable at <3.20 pmol/l. T3 was 2.8 pmol/l. She was referred urgently to the medical te...

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CaSR, gene: CASR) and is characterized by hypocalcemia, hyperphosphatemia, low parathyroid hormone (PTH), and hypercalciuria. Calcilytics (negative allosteric modulators of the CaSR) decrease the sensitivity of activated receptors to extracellular calcium and normalize blood and urine abnormalities in ADH1 rodent models. Encaleret is an oral calcilytic u...