Endocrine Abstracts

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive, monogenic disease, that could be presented as a group of various symptoms, but clinical diagnosis requires existence of minimum two of three leading disorders: chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenocortical insufficiency.Case Presentation: We report the clinical cases of two siblings with APS-1, one 28-year-old male and one 25-ye...

Introduction: It has been documented that autoimmune thyroiditis (AT) predisposes to the development of papillary thyroid cancer (PTC). The presence of chronic inflammation was thought to act as an initiating factor in carcinogenesis. Moreover elevated levels of TSH found in hypothyroid patients with AT were speculated to stimulate follicular epithelial proliferation and thereby promote the development of PCT.Case: We describe a case of two sisters aged ...

McCune–Albright syndrome (MAS) is a rare disease. It is characterized by a combination of polyostotic fibrous dysplasia, autonomous overproduction of hormones and skin hyperpigmentation.Thirty-year-old patient with significant bone deformities and the history of multiple fractures of long bones despite treatment presented with multinodular goiter with long standing hyperthyroidism. During thyroidectomy in 2009 two enlarged nodules suspected for bein...

Introduction: Release of GH by the somatotroph cells of the anterior pituitary is stimulated by GHRH. GHRH acts via its transmembrane receptor, GHRHR, a G-protein coupled receptor that stimulates protein kinase A. Recessive mutations in GHRHR are associated with severe isolated GH deficiency (IGHD) with a final height in untreated patients between 130±10 cm (−7.2±1.6 SDS) and 114±0.7 cm (−8.3±0.1 SDS) in males and females respectively.</p...

Background: SOX2 is a member of the SOX (SRY-related HMG box) family of transcription factors, and shares homology with SOX1 and SOX3 which are members of the SOXB1 subfamily. Heterozygous, de novo, loss-of-function mutations in SOX2 were initially reported in patients with bilateral anophthalmia/microphthalmia, developmental delay and male genital tract abnormalities, with variable manifestations including defects of the corpus callosum, oes...

Adjara is a region in Georgia with high level at iodine deficiency.The aim of the present work was to study the subclinical dysfunctions of thyroid gland in women older than 40 years whose thyroid state hadn’t been examined before.Materials and Methods: From 1998 to 2005 693 women aged 40–78 had been examined. Primary examination was done by different specialists.All women were tested on thyreotropi...

While it is generally acknowledged that hyperthyroidism and Paget's disease are states of increased bone turnover and that treatment reduces this, whether treatment entirely corrects or reverses abnormalities has not been established. A variety of biomarkers for bone formation which include serum levels of bone alkaline phosphatase (BAP), osteocalcin (OC) and amino terminal procollagen type 1N propeptide (PINP) and resorption biomarkers which include urinary excretion of deoxy...

Testosterone therapy has been shown to benefit men with heart failure or coronary artery disease, an activity proposed to be mediated via its vasodilatory efficacy. Testosterone has been demonstrated to dilate human coronary arteries, but it is unknown whether testosterone has a similar action in human pulmonary or systemic vessels.Male patients were recruited from cardiothoracic (n = 14, age = 68 plus/minus 9) or gastrointestinal (n = 8, age = 70 plus/minus 3) operating l...

SHOX has been implicated in the regulation of bone growth and modelling. Haploinsufficiency and heterozygous mutations of SHOX are associated with Lerri Weil Dyschondrosteosis (LWD). The cardinal features of LWD are mesomelic limb shortening and Madelung deformity. Histological studies demonstrate premature fusion of the ulna border of the radial epiphysis and disordered osteoblast maturation and orientation. In view of these observations we investigated the role of SHOX in th...

Background: Testosterone treatment has been shown to increase exercise capacity in men with chronic heart failure but the mechanism of benefit is unclear. The purpose of this study was to examine the acute haemodyamic effects of testosterone in men with heart failure.Methods: Twelve men with stable heart failure (age 62.8 (8.8)years; ejection fraction 30.9 (6.3)% (NR>60%)) were enrolled in a double-blind, placebo-controlled cross-over study. Cardiac o...