Complete and sustained remission of hypercortisolism with pasireotide treatment of an adrenocorticotropic hormone (ACTH)-secreting thoracic neuroendocrine tumor: an n-of-1 trial.

N-of-1 trials can serve as useful tools in managing rare disease. We describe a patient presenting with a typical clinical picture of Cushing's Syndrome (CS). Further testing was diagnostic of ectopic Adrenocorticotropic Hormone (ACTH) secretion, but its origin remained occult.

Pituitary Dysfunction as a Cause of Cardiovascular Disease.

The hypothalamic-pituitary axis is responsible for the neuroendocrine control of several organ systems. The anterior pituitary directly affects the functions of the thyroid gland, the adrenal glands, and gonads, and regulates growth and milk production. The posterior hypophysis, through nerve connections with the hypothalamic nuclei, releases vasopressin and oxytocin responsible for water balance and social bonding, sexual reproduction and childbirth, respectively.

Correction to: A mutation in NOTCH2 gene first associated with Hajdu-Cheney syndrome in a Greek family: diversity in phenotype and response to treatment.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Comparative effectiveness of glucagon-like peptide-1 receptor agonists versus dipeptidyl peptidase-4 inhibitors on noninvasive indices of hepatic steatosis and fibrosis in patients with type 2 diabetes mellitus.

Background And Aims: Nonalcoholic fatty liver disease (NAFLD) is highly prevalent in patients with type 2 diabetes mellitus (T2DM). There is currently no approved treatment for NAFLD. The main aim was the evaluation of the effect of glucagon-like peptide-1 receptor agonists (GLP-1 RA) vs.

A mutation in NOTCH2 gene first associated with Hajdu-Cheney syndrome in a Greek family: diversity in phenotype and response to treatment.

Introduction: Hajdu-Cheney Syndrome (HCS) is a rare genetic autosomal dominant disorder, characterized by distinctive facial features, acroosteolysis, and severe osteoporosis. Very rarely HCS is associated with polycystic kidney disease, splenomegaly or Crohn's disease (CD). It is caused by gain-of-function mutations in NOTCH2 gene.

Association between vitamin D receptor gene polymorphisms and Graves' disease: a systematic review and meta-analysis.

Purpose: The pathogenesis of Graves' disease (GD) and orbitopathy (GO) is not completely elucidated. On the other hand, vitamin D receptor (VDR) gene polymorphisms have been associated with vulnerability to a plethora of chronic autoimmune diseases. The primary aim of this study was to synthesize evidence on the association between VDR gene polymorphisms and GD.

Coexistence of a large functioning parathyroid cyst with papillary thyroid carcinoma: A case report and review of the literature.

Parathyroid cysts constitute a rare cause of primary hyperparathyroidism (PHPT). PHPT may also rarely coexist with non-medullary thyroid carcinoma (NMTC). We describe a case of a 70-year-old woman who was diagnosed with PHPT, on the occasion of nephrolithiasis (corrected calcium and PTH levels: 10.

Could Lipid Profile be Used as a Marker of Autonomous Cortisol Secretion in Patients with Adrenal Incidentalomas?

Adrenal incidentalomas (AIs) have been associated with an increased risk of metabolic syndrome and dyslipidemia, though evidence regarding the latter is limited. Lipid abnormalities in patients with AIs have been associated with subclinical hypercortisolism. The current study aims to test whether lipid profile in patients with AIs predicts "autonomous cortisol secretion" (ACS).

Enduring remission of active and sight-threatening Graves' orbitopathy with rituximab: report of two cases.

Intravenous (i.v.) glucocorticosteroids (GCs) constitute the first-line treatment for active and moderate-to-severe Graves' orbitopathy (GO).

ThyPROgr: the Greek edition of the ThyPRO questionnaires for patients with benign thyroid diseases.

The thyroid-related patient-reported outcome measure ThyPRO is currently the most reliable and valid instrument for the measurement of thyroid-related quality of life. The objective of the current study was to translate the original (85 items) and short (39 items) versions of ThyPRO into the Greek language as well as to validate and culturally adapt ThyPRO among the Greek population. Translation of patient-reported outcomes was done according to standard methodology.

Periostin and sclerostin levels in juvenile Paget's disease.

Juvenile Paget's disease (JPD) is a rare, autosomal recessive disorder featuring markedly increased serum alkaline phosphatase activity, indicative of greatly accelerated bone turnover throughout the skeleton. The main aim of this study was to evaluate circulating periostin and sclerostin levels in two adult patients with mild JPD (due to "Balkan" mutation). We measured periostin and sclerostin levels in a previously described woman and a newly diagnosed man with JPD, and 10 apparently healthy individuals, matched (1:5) to JPD patients for gender, age and body mass index.

Association between lifestyle and anthropometric parameters and thyroid nodule features.

Purpose: Thyroid nodularity has been associated with obesity, but data regarding associations of body composition parameters with specific ultrasound features of thyroid nodules are lacking. The aim of the present study was to assess associations between thyroid nodule ultrasound characteristics, lifestyle, and anthropometric parameters.

Subjects And Methods: This was a cross-sectional study in the general apparently healthy population of Northern Greece.

Thyroid dysfunction and non-alcoholic fatty liver disease.

Thyroid hormones are crucial for hepatic lipid and glucose metabolism. Non-alcoholic fatty liver disease (NAFLD), a very common and potentially serious disease of modern society, shares common clinical features with hypothyroidism, such as obesity, insulin resistance and dyslipidemia. Furthermore, in certain studies, increased prevalence of hypothyroidism was observed in patients with NAFLD.

Comparative Effect of Atorvastatin and Rosuvastatin on 25-hydroxy-Vitamin D Levels in Non-diabetic Patients with Dyslipidaemia: A Prospective Randomized Open-label Pilot Study.

Aims: Low 25-hydroxy-vitamin D [25(ΟΗ)D] levels have been associated with increased risk for cardiovascular disease. Conflicting data exist regarding the effect of statins on [25(OH)D] levels. The aim of this study was to compare the effect of atorvastatin and rosuvastatin on 25(OH)D levels in non-diabetic patients with dyslipidaemia.

Occurrence of De Quervain's Thyroiditis after Resolution of Hypercortisolism following Pasireotide Treatment for Cushing's Disease and Surgery for an Adrenocortical Adenoma: Report of Two Cases.

Objective: An increased prevalence of thyroid autoimmunity has been observed after successful treatment of Cushing's syndrome. On the other hand, De Quervain's thyroiditis (DQT), in which autoimmunity is not a pathogenetic contributor, has not been reported during recovery from Cushing's syndrome. We describe 2 female patients with DQT coinciding with the resolution of hypercortisolism after treatment of Cushing's syndrome/disease.

Psychological profile and quality of life in patients with acromegaly in Greece. Is there any difference with other chronic diseases?

Several studies have shown that acromegaly is associated with increased psychological morbidity. However, it is not known whether this is attributed to acromegaly per se or to its chronicity as a debilitating disease affecting quality of life (QoL). The aim of this study was to assess psychological profile in acromegalics compared with those suffering from other serious chronic diseases and healthy controls.

Denosumab treatment for juvenile Paget's disease: results from two adult patients with osteoprotegerin deficiency ("Balkan" mutation in the TNFRSF11B gene).

Context: Most patients with juvenile Paget's disease (JPD) have homozygous loss-of-function mutations in the TNFRSF11B gene resulting in osteoprotegerin deficiency. Because recombinant osteoprotegerin is not available for clinical use, an alternative therapeutic approach could be denosumab, which acts on the same pathway.

Main Objective: The aim was to study the effect of denosumab on bone turnover markers in two adult patients with JPD ("Balkan" mutation) previously treated with calcitonin and bisphosphonates.

Unusual case of Cowden-like syndrome, neck paraganglioma, and pituitary adenoma.

Background: Pituitary tumors, paragangliomas, and Cowden syndrome do not usually occur together.

Methods: The synchronous presentation of papillary thyroid carcinoma and neck paraganglioma was revealed in a 43-year-old woman who had been diagnosed with a microprolactinoma one decade before and now presented with a constellation of characteristics that are components of Cowden syndrome, specifically macrocephaly, multiple skin papules, fibrocystic mammary disease, and uterine leiomyofibroma.

Results: Germline mutation analysis of phosphatase and tensin homolog (PTEN), succinate dehydrogenase subunit B (SDHB), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit D (SDHD) was performed with revelation of 3 polymorphic sites in introns 1, 4, and 8 of the PTEN gene and 1 polymorphic site in exon 1 of the SDHB gene, but absence of known pathogenic mutations.

Neck abscess associated with a piriform fossa sinus tract in an adult.

Perithyroidal inflammatory masses deriving from developmental remnants of the 3rd and 4th brancial pouches are rare. We report a case of an otherwise healthy 31-year-old man, who presented with fever and swelling of the left side of the neck. Neck ultrasound showed a displaced left thyroid lobe with induration of the strap muscles.

Thyrotropin receptor autoantibodies and early miscarriages in patients with Hashimoto thyroiditis: a case-control study.

We have previously hypothesized that early miscarriage in women with Hashimoto thyroiditis might be the result of a cross-reactivity process, in which blocking autoantibodies against thyrotropin receptor (TSHr-Ab) antagonize hCG action on its receptor on the corpus luteum. To test this hypothesis from the clinical perspective, we investigated the presence of TSHr-Ab in Hashimoto thyroiditis patients with apparently unexplained, first-trimester recurrent miscarriages compared to that in Hashimoto thyroiditis patients with documented normal fertility. A total of 86 subjects (43 cases and 43 age-matched controls) were finally included in a case-control study.

Predictors of long-term remission in patients with Graves' disease: a single center experience.

Antithyroid drugs (ATDs) remain the first-line therapy in patients with Graves' disease (GD), despite a high relapse rate. The purpose of this study was to identify the predictors of remission in patients with GD treated with ATDs-retrospective study at an endocrine referral service in Northern Greece. Two-hundred and eleven patients met the study's criteria.