Endocrine Abstracts

Background: FHH is a genetically heterogeneous condition mimicking primary hyperparathyroidism at the difference of low urine calcium excretion. FHH types 1, 2, and 3 are due to loss-of-function mutations of the CASR, GNA11, or AP2S1 genes, respectively. FFH 3, the rarest of the 3, is usually associated to 3 recurrent mutations affecting the arginine residue in position 15. The clinical phenotype has not been well described. We report a new case striking by the neurological in...

A rapidly growing neoplastic mass of the neck can either be caused by an anaplastic thyroid cancer (ATC) or a primitive lymphoma of the thyroid gland (PLT). These two malignancies share the same clinical features but vary widely in their treatment and outcome. Only histologic criteria through biopsy can provide a definitive diagnosis. The aim of this study was to assess biological and radiological differences between ATC and PLT in order to hasten differential diagnosis. Sixty...

Background: The myotonic dystrophy type 1 (DM1) or Steinert disease is the most common inherited, autosomal dominant neuromuscular disorder in adult. The gonadal dysfunction has been known for many years in DM1 men with description of bilateral testicular atrophy but the factors influencing the different profiles of gonadal dysfunction, and their natural evolution are not clearly established. The purpose of this study was to determine the profiles of gonadal function on men af...