Endocrine Abstracts

The case: The multiplex endocrine neoplasia 2A (MEN2A) syndrome is a monogenic disease caused by mutation of the RET protooncogene leading to medullary thyroid cancer (MTC), pheochromocytoma and primary hyperparathyroidism. The specific mutations determine the timing of the preventive thyroidectomy. In 2007, in a 26 year old female patient, after detailed endocrine investigation, total thyroidectomy with both sided lateral neck lymph node dissection was performed because of su...

The neuroendocrine tumor of thymus (TNET) is an extremely rare disease. It can occur sporadically or as a part of the multiple endocrine neoplasia (MEN1) syndrome. TNET may secret hormons (ectopic ACTH production). It is a potentially malignant tumor which often develops distant metastases. Its prognostic factors are the tumor size, histological grade, Ki67 index, paraneoplastic symptoms, surgical resection and Masaoka staging. The options for treatment are radical surgery, ch...

A 55 year-old man was brought to the emergency room because of hypotension, fatigue, fever and pain in the left shoulder. The blood glucose, sodium, potassium levels were normal. ECG showed 65/min sinus rhythm with negative T waves in the precordial leads. Blood pressure was 70/50 mmHg. Suddenly torsade des pointes occurred, which was converted to sinus rhythm with 300 mg amiodarone. Coronarography showed no significant stenosis on epicardial coronaries. During the interventio...

Summary: The autoimmune polyglandular syndromes (APS) comprise a wide spectrum of autoimmune disorders and are divided into a very rare juvenile (APS 1) and a relatively common adult type with (APS 2) or without adrenal failure (APS 3). APS 1 is caused by mutations in the autoimmune regulatory (AIRE) gene on chromosome 21 and is inherited in an autosomal recessive manner. Mutations of the AIRE gene result in defective proteins which cause autoimmune destruction of target organ...

The polyglandular autoimmune syndromes (PAS) comprise a wide spectrum of autoimmune disorders and are divided into a very rare juvenile (type I) and a relatively common adult type with (type II) or without adrenal failure (PAS III). For PAS II/III, susceptibility genes are known inreasing the risk for developing autoimmune disorders, but without being causative. Actual diagnosis of PAS involves serological measurement of organ-specific autoantibodies and subsequent functional ...

Thyroid cancers represent ~1% of new cancer diagnoses. Thyroid malignancies are divided into papillary carcinomas (80%), follicular carcinomas (10%), medullary carcinomas (5–10%), anaplastic carcinomas (1–2%), and other rare tumours (primary thyroid lymphomas and primary thyroid sarcomas). The main therapeutic options are surgery (mainly total thyreoidectomy), radioiodine treatment, levothyroxine therapy (TSH suppression dose), others (external beam irradiation, chem...

Insulin resistance affects 50–70% of women with polycystic ovary syndrome (PCOS).The aim of our study was to estimate the prevalence of insulin resistance by different methods in a single cohort of 63 PCOS patients diagnosed by the Rotterdam criteria.Methods: Anthropometric measurement, examination and fasting blood tests were made on the 3–5th days of their periods. HOMA-IR (cut off >2.5) and QUICKI (cut off <0.3...

Introduction: Hypophysitis is an inflammatory disease of the pituitary that may mimic tumors. Primary hypophysitis has been classified as lymphocytic (LH), granulomatous (GH), and xanthomatous (XH). It has been recently proposed to be an IgG4-related autoimmune disease (serum IgG4 concentration: 135 mg/dl), proven by tissue IgG4 immunostaining.Case description: A 23-year-old men suffered from typical cluster type headache. Two years after the first sympt...

Introduction: Hypophysitis is an inflammatory disease of the pituitary gland that may mimic pituitary tumors clinically and radiologically. Primary hypophysitis has traditionnaly been classified as lymphocytic (LH), granulomatous (GH), and xanthomatous (XH).Case description: We report on a case of a xanthomatous hypophysitis initially diagnosed as pituitary adenoma. A 23-year-old men suffered from typical cluster type headache. Two years after the first ...

Introduction: Multiple endocrine neoplasia (MEN) type 1 is a rare congenital disease with genetic background. The MEN-1 gene encodes menin protein, that acts as a tumor suppressor. Mutation of one allele and the inactivation of the other allele of this gene lead to clonal proliferation and to the development of tumors. The clinical manifestation of MEN type 1 is a combination of endocrine (parathyroid adenomas, entero-pancreatic neuroendocrine tumors, pituitary tumors) and non...