Endocrine Abstracts

The 22q11.2 deletion syndrome is a clinical syndrome caused by a hemizygous deletion in the chromosome 22q11.2. Clinical findings include cardiac defects, characteristic facial features, thymic hypoplasia, cleft palate, hypoparathyroidism, learning difficulties and psychiatric disorders. The importance of chromosome 22 relies on small number of genes located in the long (Q) arm participating in the development of the body plan, including the pharyngeal arches during the embryo...

Short metacarpals and/or -tarsals are observed in pseudohypoparathyroidism (PHP) type Ia (PHP1A) or pseudo-PHP (PPHP) caused by inactivating GNAS mutations involving exons encoding the stimulatory G protein alpha-subunit (Gαs). Skeletal abnormalities indistinguishable from those caused by Gαs mutations were present in five members of an extended Belgian family, who showed no evidence for abnormal regulation of calcium and phosphate homeostasis. Direct nucleo...

A 21-year-old woman underwent total thyroidectomy and unilateral central neck dissection for papillary thyroid carcinoma. Four of the removed lymph nodes tested positive for metastasis. Additional radioactive iodine treatment was given and the post I-131 therapy total body scan showed increased uptake of iodine-131 in a thyroid remnant but none in any of the lymph nodes. Postoperatively thyroglobulin levels decreased but remained elevated. During follow-up, a nodular enlargeme...

Background: Subacute thyroiditis (SAT) is a destructive thyroiditis which is presumably caused by a viral infections or post-viral inflammatory response. Thyroid dysfunction evolves through a set of stages (hyperthyroidism - hypothyroidism - euthyroidism) and is usually temporary, although some patients may develop permanent hypothyroidism. The risk factors for permanent hypothyroidism remain unclear.Methods: A retrospective analysis of patients with SAT...

Background: Thyroid nodules are a common finding in clinical practice. Among classic risk factors for thyroid cancer, thyroid scintigraphy has traditionally been attributed prognostic value, with cold nodules implying greater risk. However, research supporting this assumption is of considerable age and possibly influenced by selection bias. In this study, we aimed to calculate the risk of malignancy in cold and hot nodules.Material and Methods: All thyro...

Introduction: The first-line imaging modalities to locate adenomas preoperatively in primary hyperparathyroidism (PHPT) are ultrasonography (US) and subtraction scintigraphy (SuSc). When these contradict each other or are inconclusive an [11C]-methionine PET/CT (MET-PET/CT) or a 4-dimensional computed tomography (4D-CT) can be performed.Objectives: The aim of this retrospective study was to evaluate the value of MET-PET/CT in the preoperative localizatio...

Background: Monoclonal antibodies targeting CTLA-4 and PD-1/PD-L1 are promising for a wide range of advanced malignacies. These immune checkpoint inhibitors (ICI) provoke endocrine adverse events including hypopituitarism and primary thyroid disease.Methods: PubMed was searched through August 22nd, 2017, for relevant articles on endocrinopathies and ICI, by two reviewers independently (J.d.F. and C.A.). The weighted incidence and odds-ratio were estimate...

Background: Hypoparathyroidism is a rare endocrine disease with low calcium and insufficient parathyroid hormone levels. In most cases it is caused by thyroid surgery. The objective of this retrospective cohort study was to evaluate if the typical therapy regimens of postsurgical hypoparathyroidism with calcitriol have a negative effect on renal function. Methods: We performed a chart analysis of patients that were seen in a tertiary care hospital in Bru...

Background: Subacute thyroiditis (SAT) is a destructive thyroiditis of probable viral origin. Thyroid dysfunction evolves through a set of stages (hyperthyroidism - hypothyroidism - euthyroidism) and is usually temporary, although some patients develop permanent hypothyroidism. The risk factors for permanent hypothyroidism remain largely unclear.Methods: A retrospective analysis of patients with SAT at the University Hospital of Brussels from 2001-2020 w...

Pheochromocytoma is a rare catecholamine-secreting tumor with variable clinical manifestations. A possible cardiac presentation is acute left ventricular wall motion abnormality in the heart also known as the Takotsubo syndrome. Takotsubo stress cardiomyopathy was first described in 1990 in Japan and current knowledge remains limited. We report a case of pheochromocytoma-induced Takotsubo syndrome. A 43-year-old woman acutely developed nausea, severe chest pain, and dyspnoea d...