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...

Objectives: Graves’ hyperthyroidism is a frequent complication of alemtuzumab treatment in MS. We present the case of an MS patient who developed clinically and biochemically overt alemtuzumab-induced Graves’ disease, remitting 6 months after treatment with ocrelizumab and methylprednisolone pulse-therapy.Methods: A 49-year-old man diagnosed with active multiple sclerosis who had undergone alemtuzumab treatment, and developed Graves’ hyper...

Introduction: The tyrosine kinase inhibitor (TKI) lenvatinib, used in radioiodine-refractory differentiated thyroid cancer, is usually well-tolerated. However, severe side effects can occur. We describe a life-threatening complication under lenvatinib, followed by a challenging treatment with levothyroxine (LT4).Case Report: A 62-year-old man was diagnosed with a bone-metastasized Hurthle cell thyroid carcinoma (pT3N0M1). He underwent a total thyroidecto...

Background and Objective: It is known that androgens decrease and estrogens increase TBG. In female to male transsexuals under testosterone replacement, decrease of TBG has been shown, but also an increased T3/T4 ratio despite stable free T4 and TSH, suggesting increased conversion to T3 by testosterone. We wanted to study the HPT axis in hypogonadal cis-males before and after testosterone replacement.Method: Prospective observational study in adult male...

Background: Medullary thyroid carcinoma (MTC) can result from an inherited predisposition related to variants in the RET gene. The insTTCTdelG variant in codon 666 has been previously associated with MTC in one family, but larger studies are not available. We aim to describe biochemical and clinical characteristics associated with this genetic variant in sixteen Belgian families.Methods: Retrospective study of sixteen families in Belgium, evalua...

Background: Thyroid cancer incidence is increasing, especially the cancers ≤1 cm (T1a). Previous evidence suggests underuse of FNA. Several international guidelines for the management of thyroid cancer have been published. Especially the year 2006 was a hallmark, with the publication of both the ETA consensus and ATA guidelines.Aim: Compare thyroid cancer subtypes and management before and after 2006.Methodology: Retrospectiv...

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</...

Publication: L. Veldeman et al. Calcif Tissue Int 2020 Epub 2020 Apr 19We describe the case of an adult female patient with symptomatic familial hypocalciuric hypercalcemia requiring a step-wise therapeutic approach and the eventual need for a total parathyroidectomy and thyroidectomy to cure symptoms. Genetic analysis demonstrated a heterozygous R227L inactivating CASR gene variant, previously only described in neonatal severe hyperpar...

Objective: Anaplastic thyroid carcinoma (ATC) and primary thyroid lymphoma (PTL) are two highly aggressive malignancies of the thyroid, both leading to a rapidly enlarging neck mass. Fine-needle aspiration cytology (FNAC) is generally performed as the primary examination for diagnosis in thyroid pathology but shows low sensitivity in diagnosing ATC or PTL. Non-diagnostic FNACs are usually followed by core-needle biopsy (CNB) or diagnostic surgery. As sensitivities of up to 100...