Endocrine Abstracts

Introduction: Over the past years Ga-68-DOTANOC PET/CT is increasingly performed, which may lead to an increase in encountering incidentaloma. In 2022, a systematic review was published about incidentaloma on Ga-68-DOTANOC/DOTATE, describing a prevalence of 4.5% and a relatively high rate of malignancy (13%). However, it was estimated that the overall prevalence was underestimated and the frequency of malignancy overestimated because of publication bias....

Introduction: Thyroid storm or thyrotoxic crisis is a severe manifestation of thyrotoxicosis. Mortality rate is 20-30%. The most common trigger is hyperthyroidism due to Graves-Basedow Disease. There are two validated scales for diagnosis: the Burch Wartofsky scale (BWPS) and the Japanese Thyroid Association scale (JTA). These scales are based on cardiovascular, neurological, digestive, and thermoregulatory clinical manifestations. If clinical suspicion is high, treatment shou...

A 60–year-old male and 24–year-old female presented to the endocrinologist with hyperthyroidism of unknown cause. A 60-year-old male was admitted to the Department of Endocrinology with fatigue, dyspnoea, increased sweating, and anxiety. Hyperthyroidism was diagnosed with TSH < 0.0008 mIU/l [reference range: 0.3500 – 4.9400], FT4 – 4.03 ng/dl [reference range: 0.89 – 1.76] and FT3 – 12.96 [reference range: 2.3-4.2]. The patient had a...

Introduction: Endocrinopathies are one of the most common autoimmune adverse events (AIAEs) causing severe toxic complications during the use of checkpoint inhibitor therapy (CPI).Clinical Case: A patient with complaints of hyperpigmentation of the skin of the back in August 2022 an excisional biopsy was performed and pigmented epithelioid cell melanoma with tumor growth along the resection margin was verified. In December 2022, CT revealed metastases in...

Introduction: According to published data, pregnancy-associated osteoporosis is a rare disease, the pathophysiology of which is currently not fully explored.&Scy;linical case: In 2014, a 27 year-old patient B. after the first childbirth, pain appeared in the lumbosacral spine, for which a course of physical therapy was carried out with a short-term positive effect. In 2016 after the second childbirth, pains increased; according to the results of further ...

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by the triad of hypoparathyroidism (H), deafness (D) and renal abnormalities (R). Its genetic cause is known to be the haploinsufficiency of the zinc finger transcription factor GATA3. This disorder exhibits a great clinical variability and an age-dependent penetrance of each feature. The most frequent manifestation is sen...

Inflammation activates a variety of inflammatory cells, which induce and activate several oxidant-generating enzymes which are able to produce high concentrations of free radicals and oxidants which react with each other to generate other more potent reactive oxygen and nitrogen species such as peroxynitrite (ONOO−) that can damage DNA, RNA, lipids, and proteins by nitration, oxidation, etc., leading to increased mutations and altered functions of enzymes and ...

Selpercatinib is a specific RET inhibitor, highly effective in the treatment of advanced RET-mutant medullary thyroid carcinoma (MTC). The consequences of selpercatinib administration in MTC patients who have not undergone thyroid surgery are still unknown. We report the case of an 84-year-old man undergoing investigations for worsening diarrhea and weight loss. Upon a neck ultrasound scan and blood exams that pointed out high levels of both calcitonin (CT, 20.583 ng/l) and ca...

Primary hyperparathyroidism (PHPT) is a common endocrine disease mainly caused by a single parathyroid adenoma. Although the localization of the parathyroid adenoma is not a surgical criterion for parathyroidectomy (PTX), this is known to increase the cure rate and reduce the complication rate. Neck ultrasound and MIBI-scintigraphy are the first-line techniques to detect hyperfunctioning parathyroid tissue, however, they have some limitations including the operator-dependent s...

Background: Prader-Willi syndrome (PWS) is a complex rare genetic disorder associated with hypothalamic dysfunction, pituitary hormone deficiencies, hyperphagia and (morbid) obesity. PWS is caused by loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common genetic mechanisms leading to PWS are paternal deletion (DEL) and maternal uniparental disomy (mUPD). DELs can be subdivided in type 1 and (smaller) type 2 deletions (DEL-1, DEL-2). Most re...