Endocrine Abstracts

Introduction: Mutations in the RET gene cause multiple endocrine neoplasia type 2A (MEN2A), MEN2B, and familial medullary thyroid carcinoma (FMTC). The identification of a germline RET mutation aids clinical management, enables the identification and predictive testing of at risk family members and provides reassurance for mutation-negative family members. In the research setting, mutations in exons 5, 8, 10, 11, 13–16 of the RET gene have been ...

Introduction: Riedel’s thyroiditis (RT) is a rare chronic inflammatory disease characterized by a dense fibrosis that replaces normal thyroid parenchyma. The most common manifestation is a stony hard thyroid mass, commonly associated with compressive symptoms. Histological confirmation is essential for diagnosis and the main differential diagnosis is the anaplastic thyroid cancer. The management is challenging and there is no agreed standard treatment, since only a few ca...

Addison’s disease (AD), also known as primary adrenal insufficiency, is caused by destruction or dysfunction of the adrenal cortex, resulting in hypocortisolism. The usual clinical features of chronic AD are non-specific and include fatigue, nausea, vomiting and hyperpigmentation. We describe the case of a 58-year-old African black male with AD presenting with recurring severe hypoglycaemia. The patient was admitted several times to the emergency department with hypoglyca...

Pseudohypoparathyroidism (PHP) is a rare group of genetic disorders characterised by end-organ resistance to parathyroid hormone (PTH). We describe the case of a 34-year-old Caucasian female with severe hypocalcaemia presenting with a first generalised seizure. Her medical history was significant for bilateral cataract. She had three healthy children, and no family history of note. On examination, she had positive Chvostek’s sign. Biochemical analysis showed serum calcium...

Glucocorticoids (GCs) are steroid hormones, products of the hypothalamic–pituitary–adrenal axis. Synthetic GCs, such as dexamethasone, have been widely used in the treatment of inflammatory diseases like rheumatoid arthritis or asthma, but their long-term use causes severe side effects (osteoporosis, diabetes, hypertension, etc). The ligand-bound GC receptor (GR) can activate gene expression via binding to GC response elements (GREs), a mechanism known as transactiva...

Introduction: Kallmann syndrome (KS) is a developmental disorder characterised by hypogonadotropic hypogonadism and anosmia. Known genetic causes account for up to 30% of patients with KS, with FGFR1 mutations being identified in 10%. FGFR1-related KS has an autosomal dominant inheritance with incomplete penetrance. We present a family with KS due to a novel variably penetrant FGFR1 mutation, where the presenting features included cleft lip/palate and anosmia...

Introduction: Parathyroidectomy is the only curative treatment for primary hyperparathyroidism (pHPT) and has been traditionally performed through bilateral neck exploration (BNE). However, with the use of intraoperative parathyroid hormone (IOPTH) assay along with preoperative localization exams, minimally invasive surgery can be performed with good surgical success rate.Aim: To evaluate the usefulness of IOPTH assay in guiding adequate parathyroidectom...

Introduction: Hypoparathyroidism (hypoPTH) is one of the most feared iatrogenic complications of the surgical treatment for thyroid cancer (TC). Despite supplementation with calcium salts and calcitriol, hypoPTH seems to be associated with a negative impact on quality of life (QoL), which has not been evaluated in the Portuguese patients.Objectives: To evaluate the impact of hypoPTH on the QoL of Portuguese patients with TC and its correlation with serum...

Introduction: Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor (1-2% of all thyroid carcinomas), which arises from calcitonin-producing C cells. Calcitonin (CT) and carcinoembryonic antigen (CEA) are used as tumor markers in the follow-up of patients with MTC. Non-secretory forms of MTC are very rare, accounting for less than 1% of the cases.Case Report: A 53-year-old man underwent left thyroid lobectomy for a 1.1 cm thyroid nodule subjec...

Introduction: Adrenocortical carcinoma (ACC) is a rare endocrine malignancy with poor prognosis. Objective: The aim of this study is to characterize patients with ACC followed at a tertiary center. Material and Methods: Retrospective analysis of clinical records of patients with histopathological diagnosis of ACC followed in our clinic. Results and conclusions: We reviewed 11 patients. The average age at diagnosis was 57.3±15.2 years and 63.6% were females. Seven patients...