Endocrine Abstracts

The prevalence of hypothyroidism in women of childbearing age is relatively high. The incidence of hypothyroidism during pregnancy has been calculated as between 0.3% and 0.7%. Overt abnormalities in thyroid function are common endocrine disorders affecting more than 19.2% of pregnant women in certain geographic areas of Hungary. 80% of Hungarian inhabitants are living in an iodine deficient area. The aim of this study was to investigate the prevalence of thyroid dysfunction i...

Testicular neoplasmas are 5–15 percent of total tumours number in male dogs. Seminomas are the most common type of testicular tumours in dog.The thyroid tumours are large, unilateral palpable masses in neck region in most of the cases. Although seventy percent of malignant thyroid neoplasmas are carcinomas, 5–20% of them are endocrinologically active which induce the clinical signs of hyperthyroidism.Seven – twenty o...

The total 25-hydoxy-vitamin-D (t25OHD) level can be assessed by various methods and reflects vitamin D intake. Results are influenced by the serum variables affected by dialyses.Aims: To examine t25OHD and bioavailable vitamin D (b25OHD) by two methods in patients on peritoneal-(PD) and hemodialysis (HD).Methods: We studied 37 HD (64±15 years) and 36 PD (63±18 years) patients. The t25OHD was assessed by chemiluminescence ...

We report a family with a novel heterozygous mutation of the menin gene. This gene encodes a tumor suppressor protein which is responsible for multiple endocrine neoplasia type 1. The index female patient presented with symptoms of mild gastric hyperacidity and recurrent kidney stones. Family history revealed, that the daughter, as well as two sisters of the index patient had operations for primary hyperparathyroidism (PHPT). Clinical studies in the index patient showed elevat...

Introduction: In acromegaly GH excess leads to impaired insulin sensitivity with an alteration of beta-cell function. The consequent hyperglycemia leads to a further increased cardiovascular risk and mortality.Case report: A 16 years old patient was first referred to the Department of Pediatrics in 2014 with accentuated growth since the age of 10. The reason of the first referral was a sport injury (head trauma during playing basketball). Sella MRI depic...

Background and aim: Primary hyperparathyroidism (PHPT) is a frequent endocrinopathy among postmenopausal women, leading to hypercalcaemia, osteoporosis and nephrolithiasis. PHPT may represent the first manifestation of certain familial syndromes. Among these, multiple endocrine neoplasia syndrome type 1 (MEN-1) caused by germline mutation of MEN1, the gene encoding menin, is the most frequent. Additionally, somatic mutations of MEN1 and microRNAs silencing <e...

Background: von Hippel-Lindau syndrome (VHL) is a rare autosomal dominant disease caused by alterations of the vhl tumor-suppressor gene. Patients with VHL are at risk for development of retinal, central nervous system and spine hemangioblastomas, clear-cell renal cell carcinomas, pheochromocytomas, endolymphatic sac tumors and cysts; and pancreatic islet cell tumors. Based on the presence or absence of pheochromocytoma as a phenotypic marker, VHL can be divided into di...

Introduction: Multiple endocrine neoplasia type 1 (MEN 1) may present as a familial or a sporadic disorder with multiple endocrine tumours including parathyroid adenomas or hyperplasias, tumours of endocrine pancreatic and pituitary gland. Familial and sporadic MEN 1-related states which do not fulfill current diagnostic criteria but may be related to MEN 1 syndrome have been also described.Aims: The aim of this study was to examine the prevalence and sp...

Objective: Multiple endocrine neoplasia type 1 (MEN1) is a rare heritable tumor syndrome caused by germline mutations of MEN1 gene affecting mainly the parathyroid, pituitary and pancreas. Phenotype varies widely, even in first-degree relatives. Recently it has been shown that functionally active gastroenteropancreatic neuroendocrine tumors (GEP-NETs), initially frequently diagnosed as sporadic cases, lead to MEN1 diagnosis. Non-functioning tumors are increasingly rec...