Endocrine Abstracts

Background: Graves’ disease (GD) is an autoimmune disease caused by antibodies directed to the TSH receptor (TRAb), which can be activating (TSAb), neutral, or blocking (TBAb). This balance determines the final clinical result. Typically TSAbs dominate, resulting in hyperthyroidism. Rarely, TBAbs prevail and result in hypothyroidism (1). The TRAb assay routinely used in the clinic does not allow to differentiate between stimulating or blocking characteristics.<p class...

Early 2005 we reported on a new insertion-deletion mutation (insTTCTdelG) at codon 666 (exon 11) of the RET proto-oncogene. The index patient, a 12 year old boy with locally metastasized MTC, inherited the mutation from his maternal grandfather. His mother had a basal calcitonin of 30 ng/l and underwent a prophylactic total thyroidectomy at age 48, showing C-cell hyperplasia in both lobes and early MTC with a maximum size of 1.5 mm. At age 82, his grandfather did not have clin...

Background: Most patients consulting an endocrinologist for hypercalcemia suffer from primary hyperparathyroidism. Rarely, toxic vitamin D levels can also induce hypercalcemia while suppressing parathyroid hormone (PTH) levels. Infantile hypercalcemia can be caused by mutations in CYP24A1 (24-hydroxylase), which are inherited in an autosomal recessive manner (1). This enzyme is responsible for the inactivation of 25-OH-vitaminD (25-OHD) and 1,25(OH)2vitaminD3</...

Background and aim: Androgens and glucocorticoids are regulated via the hypothalamus-pituitary-gonadal (HPG) and hypothalamus-pituitary-adrenal (HPA) axis, respectively. We aimed to check possible interference of androgen deprivation with the HPA axis and circulating glucocorticoid levels. Androgen deprivation is most widely used in the treatment of prostate cancer, but is also applied in gender-affirming care and males with hypersexual disorder. Current insig...