Endocrine Abstracts

Objectives: Thyroglobulin (Tg) play an important role in managements of well-differentiated thyroid carcinoma (DTC). Undetectable TSH-stimulated serum Tg level in the absence of antithyroglobulin antibody (AbTg) indicates complete remission. Circulating AbTg may interfere with Tg assay and may cause false negative results. Moreover, undetectable Tg is observed in a part of patients after total thyroidectomy(TT), even if serum AbTg concentration is low.Th...

Introduction: Hypopituitary patients receiving conventional hormone substitution, but without GH replacement, have an increased mortality from cardiovascular diseases. Inadequate hormone replacement is a possible cause of this increased mortality. GH deficiency in adult patients has been associated with several cardiovascular risk factors, including hyperlipidemia, increased abdominal adiposity, and impaired insulin sensitivity.Aim of the study: The aim ...

Introduction: Vitamin D, known mainly as a calcium-phosphorus homeostasis regulator, turned out to play also a significant role in the immune system modulation. Vitamin D deficiency has been reported in some autoimmune disorders. It is also suspected that polymorphisms of vitamin D-related genes comprise a risk factor for different autoimmune diseases. Therefore the aim of our study was to assess vitamin D receptor (VDR) gene FokI polymorphism in thyroid associated orbitopathy...

Introduction: Endocrinologic dysfunction is a well-known complication after hematopoietic stem cell transplantation (HSCT) in children. The mechanisms of thyroid damage developing after transplantation remain not completely recognized. Toxicity of the conditioning regimen, especially total body irradiation, is most commonly postulated cause of endocrine abnormalities; immunological mechanisms (e.g. graft vs host disease) may also contribute to thyroid dysfunction.<p class=...

Introduction: Hypopituitary patients receiving conventional hormone replacement, but without GH replacement, have an increased mortality from cardiovascular diseases. Inadequate hormone replacement is a possible cause of this increased mortality. GH deficiency in adult patients has been associated with several cardiovascular risk factors, including hyperlipidemia, increased abdominal adiposity, and impaired insulin sensitivity.The aim of the study is an ...

The silent myocardial ischemia is a serious diagnostic problem especially in patients with long-standing diabetes of type 1 (DM). Resting as well as exercise myocardial perfusion scintigraphy tests allow to recognize the silent myocardial ischemia in these groups of patients and to start the relevant treatment. The aim of the study was to establish the prevalence of myocardial ischemia in patients with type 1 DM, without clinical symptoms of ischemic heart disease (IHD) and wi...

The index case, born to non-consanguineous British parents, was born with a normal birth weight. He grew along the −2.9 S.D. centile from the age of 2 years. Eczema was diagnosed at the age of 2 weeks. Investigations at 3–4 years of age showed: IGF1<25 ng/ml, IGFBP3 1.29 (N 0.8–3.9), prolactin 265–653 mU/l (N 59–271), GH peak (glucagon test) 17.3 ug/l, normal GH peaks on overnight sampling, and an IGF1<25 ng/ml...

Familial glucocorticoid deficiency (FGD) results from the inability of the adrenal cortex to produce cortisol in response to ACTH stimulation and can be fatal if unrecognised. The disease manifests clinically with increased ACTH and reduced cortisol levels. Our group has recently demonstrated that oxidative stress is implicated in the pathogenesis of this disorder.We previously identified mutations in nicotinamide nucleotide transhydrogenase (NNT) in pat...

Background: GH resistance or primary IGF1 deficiency (PIGFD) presents with growth failure, low serum IGF1 and normal/elevated serum GH. PIGFD comprises a spectrum of phenotypic and biochemical abnormalities for which genetic GH–IGF1 axis defects may be causative.Objective: Genotyping of PIGFD patients referred for sequencing of candidate genes.Methods: From 2008 to 2013, 62 patients (42 males and 20 females), median age 6.9 ye...

Familial glucocorticoid deficiency is an autosomal recessive disorder characterised by resistance to ACTH of the adrenal cortex, leading to isolated glucocorticoid deficiency and life-threatening hypoglycaemia. Half of all cases are caused by mutations in MC2R, MRAP, MCM4 or STAR. Recent work in our group has identified defects in nicotinamide nucleotide transhydrogenase (NNT) to be causal in a further 10% of cases. NNT generates the high con...