Endocrine Abstracts

We describe the case of a 48-year-old woman, who presented with a history of six months' weight gain, easy bruising and difficulty in rising from a seated position. Examination revealed typical clinical features of Cushing's syndrome. She was hypertensive at 150/100 mmHg and diabetic. She was also agitated, emotionally labile, and disinhibited, requiring sedation. Her sister has MEN-1 (hyperparathyroidism and lung carcinoid tumour).Low-dose and high-dose...

Case: A 77-year-old woman, with a 50-year history of type 2 diabetes mellitus and multiple micro- and macrovascular complications, was hospitalized for a foot ulcer on a chronic Charcot foot. On admission, systematic anamnesis revealed back pain around L1-L2 for a week. There was no history of trauma or fever. Examination was normal except a symetrical loss of sensitivity on the feet related to his diabetic polyneuropathy. On admission, blood test showed an inflammatory syndro...

Background: Kallmann syndrome (KS) is a genetic disorder associating pubertal failure with anosmia/hyposmia. KS is related to defective neuronal development affecting both the migration of olfactory nerve endings and GnRH neurons. The discovery of several genetic mutations responsible for KS led to the identification of signaling pathways involved in these processes, but the mutations so far identified account for only 30% of cases of KS. Here we attempted to identify new KS r...

Background: It is well established that 1,25-dihydroxyvitamin D3 (1,25-D3) inhibits cell growth and induces apoptosis in numerous tumors. Increased expression of 1,25-D3 inactivating enzyme, (24-hydroxylase - CYP24A1), has been observed in numerous thyroid cancer cell lines after calcitriol treatment in vitro. We examined the expression of CYP24A1 as well as the activating 1-α-hydroxylase (CYP27B1) gene in human thyroid cancer tissue.Methods:...

It is established that somatic oncogene mutation (BRAF, NRAS, HRAS, KRAS) and gene translocations (RET/PTC, PAX8/PPAR-gamma) are associated with the development of thyroid cancer. Somatic single nucleotide polymorphisms were analyzed by LigthCycler melting method, while translocations were identified by real-time polymerase chain reaction technique. In 22 intraoperative thyroid tissue samples (11 pathologic and 11 normal). In tumorous sample 3 BRAF, 2 NRAS and one HRAS mutatio...

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome, an autosomal dominant disorder, is characterised by the occurrence of parathyroid tumours, often carcinomas, and ossifying fibromata of the jaw. The HPT-JT gene, referred to as HRPT2, is located on chromosome 1q25 and consists of 17 exons that encode a 531 amino-acid protein designated parafibromin. To explore the role of HRPT2 in parathyroid tumourigenesis, we generated two mouse models that comprised a conve...

Primary hyperparathyroidism (HPT) is most frequently encountered as a non-familial disorder, but 10% of patients with primary HPT will have a hereditary form, which may occur as an isolated endocrinopathy or as part of a complex tumour syndrome such as multiple endocrine neoplasia type 1 (MEN 1) or type 2 (MEN 2), or the hereditary hyperparathyroidism-jaw tumour syndrome (HPT-JT). Familial isolated hyperparathyroidism (FIHP) is an autosomal dominant disorder characterised by u...

Background: In patients with type 1 diabetes (T1D), arterial stiffness is a potential alternative biomarker for cardiovascular (CV) risk as it has recently shown important prognostic value in the development of CVD that is independent from traditional risk factors. Glycemic control by means of HbA1c is a main determinant of arterial stiffness progression, however the relationship with continuous glucose monitoring (CGM)-derived parameters such as time in range (TIR) has not be...

Introduction: There is no consensus about the management of thymic enlargement in Graves’ disease (GD). If imaging indicates ‘benign’ thymic appearances, and interval scans are stable, most authorities advocate no intervention until thyrotoxicosis is controlled. We present 3 patients with GD and incidentally found thymic enlargement.Case presentations: a. A 37-year-old female presented acutely with osmotic symptoms, a weight ...

Introduction: There is no consensus about the management of thymic enlargement in Graves’ disease (GD). If imaging indicates ‘benign’ thymic appearances, and interval scans are stable, most authorities advocate no intervention until thyrotoxicosis is controlled. We present 3 patients with GD and incidentally found thymic enlargement.Case presentations: a. A 37-year-old female presented acutely with osmotic symptoms, a weight ...