Endocrine Abstracts

Introduction: Restless legs syndrome (RLS), also known as Willis-Ekbom disease, is a common condition of the nervous system. It causes an overwhelming, irresistible urge to move the legs, mainly in the evening and night hours. It occurs in 7.2–10.0% of the population of western countries. Etiopathogenesis of RLS is not fully understood, but there is a hypothesis than an important role may play the imbalance between thyroid function and the dopaminergic system. The main ai...

Introduction: Turner Syndrome (TS) is associated with a higher overall morbidity and mortality than the general population, with respiratory diseases as one of the major causes. Haemophilus influenza type B (HiB) and pneumococcal (PC) vaccination can reduce morbidity and mortality, by alleviating the risk of respiratory diseases. All patients in the Newcastle Adult Turner Syndrome clinic who lack immunity to either HiB or PC at baseline receive vaccination in our TS clinic. Ho...

Background: TSH secreting pituitary adenomas represent small proportion of functional pituitary tumours presenting as hyperthyroidism with elevated thyroid hormone levels and inappropriately normal or increased TSH concentration. They are ≥1 cm in size and quite aggressive with tendency to relapse following transphenoidal adenomectomy (TSA). Surgical resection remains gold standard in their definitive treatment while pharmacotherapy with long-acting somatostatin analogue...

Identified genetic players for most common diseases are not sufficient to explain their heritability. This situation is known as the missing heritability problem. One among the possible explanations is the impact of rare variants. We present our own results of rare variants in the gene SLC26A4 in Hashimoto’s thyroiditis (HT), which were not found in controls, and therefore confirm the possibility of their impact on this disease. We genotyped 147 Hashimoto’s ...

Turner syndrome (TS), resulting from complete or partial loss of X chromosome, occurs in 1 per 2000-2500 liveborn female neonates. Most patients with TS, especially those untreated with growth hormone, present with osteoporosis or osteopenia, and are at increased risk of bone fractures. Available evidence suggests that depletion of bone mass may be associated with inadequate level of physical activity, and consequently, with too low muscle mass and strength. The aim of the stu...

Classical form of congenital adrenal hyperplasia (CAH) is associated with the impairment of enzymes involved in process of adrenal steroidogenesis. More than 90% of CAH cases are connected with mutations in the 21-hydroxylase gene CYP21A2 in the HLA class III area on the short arm of chromosome 6p21.3. CAH is characterized by a strong correlation between the genotype and the phenotype. Mutations in the CYP21A2 gene can cause different degrees of loss of 21-hy...

Introduction: Based on cancer registries, the risk of second primary malignancies in patients with DTC increases by 30%. In our case report we aimed at understanding the patomechanism of metachronous primary tumours in patients with thyroid cancer.Case: In a 71-year old female surgery of nodular goitre (1988), followed by papillary thyroid cancer (pT3NxMx) surgery (2008) and complementary 131-I treatment (2009), were performed. In diagnostic WBS (2010) n...

Introduction: The prevalence of incidentally found adrenal tumors – adrenal incidentalomas (AI) – in imaging procedures and autopsy series is up to 4.5–8.7%. Endocrine and clinical evaluation is carried out to diagnose hormonal function or malignancy of the tumors. Nonfunctional adenomas comprise about 80% of AI. The aim of the study was to identify possible association between various clinical, hormonal and radiological features of nonfunctional AI.<p class...

Introduction: Turner syndrome (TS) is a condition caused by structural or numerical abnormalities of X chromosome. Growth deficiency is characteristic for patients with TS, and particular karyotype abnormalities of the X chromosome may be associated with different responsiveness to human GH (hGH) therapy. The aim of the study was to determine the effect of TS karyotype on growth velocity during hGH therapy in TS.Methods: 23 TS patients treated with hGH w...

Germline AIP gene mutations have been linked with familial isolated pituitary adenomas (FIPA). Inactivating mutations of AIP have also been reported in seemingly sporadic pituitary adenomas, particularly of early onset, aggressive, and GH secreting.Aim: To assess the frequency and type of germline AIP gene mutations in patients with apparently sporadic PMAs.Material: The study included 31 consecutive patients with pituitary macroad...