Searchable abstracts of presentations at key conferences in endocrinology

ea0005p223 | Steroids | BES2003

Excretion of the urinary metabolite of deoxycortisol is heritable and influenced by polymorphic variation at the CYP11B2 (aldosterone synthase) locus

Myosi B , Keavney B , Watkins H , Davies E , Ingram M , Fraser R , Connell J

Background: The enzymes 11beta-hydroxylase and aldosterone synthase are key control steps in regulation of cortisol and aldosterone synthesis. We have previously reported that polymorphic variation of the gene encoding aldosterone synthase (CYP11B2) is associated with altered efficiency of 11b-hydroxylation of the precursor of cortisol, deoxycortisol. In order to examine this relationship in greater detail, we have studied the pattern of steroid precursor metabolite excretion ...

ea0005p237 | Steroids | BES2003

Cortisol metabolite excretion and 11-hydroxysteroid dehydrogenase type 1 activity are strongly heritable in man

Myosi B , Watkins H , Keavney B , Ingram M , Fraser R , Davies E , Connell J

Background: Cortisol availability to target tissues represents a complex interplay of synthesis, secretion, metabolism and excretion. A number of these processes are regulated by enzymes that are encoded by genes that are key candidates in determining the metabolic and cardiovascular phenotype in man. Measurement of a range of corticosteroid metabolites allows the activity of these enzymes to be inferred. We have studied the pattern of cortisol metabolite excretion in a large ...

ea0004p43 | Diabetes, metabolism and cardiovascular | SFE2002

Hyperleptinemia and cardiovascular diseases

Sieminska L , Kajdaniuk D , Kos-Kudla B , Marek B , Nowak M , Szelag-Glogowska J

Hyperleptinemia is associated with such risk factors for cardiovascular disease as insulin resistance, obesity and hypertension. Recently, it has been identified that leptin has prothrombotic properties and increases the accumulation of oxidant radicals in endothelial cells. It is hypothesized that leptin may be also one of the mediators promoting atherosclerosis.The objectives of the work were to:determine whether there are any co...

ea0004p46 | Diabetes, metabolism and cardiovascular | SFE2002

Glucose intolerance in women with polycystic ovary syndrome

Sieminska L , Kos-Kudla B , Marek B , Kajdaniuk D , Foltyn W , Strzelczyk J , Staszewicz P

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age and is characterized by hyperandrogenism and menstrual disturbances. It is known that insulin resistance is associated with polycystic ovary syndrome and with obesity.The objective of this study was to assess the prevalence of glucose intolerance and diabetes in women with PCOS and to examine the role of body mass index in the development of this complications...

ea0003p122 | Endocrine Tumours and Neoplasia | BES2002

Cushing's syndrome due to apparently autonomous adrenal hyperplasia in a patient with multiple endocrine neoplasia type I

Khoo B , Field B , Rosenfelder N , Lowe D , Beshyah S , Monson J

We describe the case of a 48-year-old woman, who presented with a history of six months' weight gain, easy bruising and difficulty in rising from a seated position. Examination revealed typical clinical features of Cushing's syndrome. She was hypertensive at 150/100 mmHg and diabetic. She was also agitated, emotionally labile, and disinhibited, requiring sedation. Her sister has MEN-1 (hyperparathyroidism and lung carcinoid tumour).Low-dose and high-dose...

ea0071024 | Diabetic muscle infarction | BES2020

Diabetic muscle infarction

V Atquet , C De Fays , L Orioli , B Vande Berg , C Galant , B Vandeleene

Case: A 77-year-old woman, with a 50-year history of type 2 diabetes mellitus and multiple micro- and macrovascular complications, was hospitalized for a foot ulcer on a chronic Charcot foot. On admission, systematic anamnesis revealed back pain around L1-L2 for a week. There was no history of trauma or fever. Examination was normal except a symetrical loss of sensitivity on the feet related to his diabetic polyneuropathy. On admission, blood test showed an inflammatory syndro...

ea0083to1 | Thyroid | EYES2022

Does mild form of subclinical hypothyroidism needs treatment?

V Velkoska Nakova , B Krstevska , C Volkanovska Ilijevska , A Stevchevska , A Muca , B Todorovska , M Boshevski

Background: Overt hypothyroidisms warrants L-T4 treatment, but treatment in subclinical hypothyroidism (ScH), especially in mild form of ScH (TSH between 4,2-10mU/l and normal free thyroxine) is unknown.Objectives: To compare the presence of risk factors for atherosclerosis in patients with mild form of ScH to euthyroid subjects.Methods: Prospectively 67 consecutive patients with newly diagnosed ScH, and 30 healthy subjects were re...

ea0029p1098 | Neuroendocrinology | ICEECE2012

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

Young J. , Metay C. , Bouligand J. , Tou B. , Francou B. , Maione L. , Tosca L. , Sarfati J. , Brioude F. , Esteva B. , Briand A. , Goossens M. , Tachdjian G. , Guiochon-Mantel A.

Background: Kallmann syndrome (KS) is a genetic disorder associating pubertal failure with anosmia/hyposmia. KS is related to defective neuronal development affecting both the migration of olfactory nerve endings and GnRH neurons. The discovery of several genetic mutations responsible for KS led to the identification of signaling pathways involved in these processes, but the mutations so far identified account for only 30% of cases of KS. Here we attempted to identify new KS r...

ea0029p1760 | Thyroid cancer | ICEECE2012

Remarkable enhance in CYP24A1 expression in human thyroid cancer tissue

Balla B , Kosa J , Tobias B , Halaszlaki C , Takacs I , Horvath H , Speer G , Horanyi J , Nagy Z , Jaray B , Szekely E , Lakatos P

Background: It is well established that 1,25-dihydroxyvitamin D3 (1,25-D3) inhibits cell growth and induces apoptosis in numerous tumors. Increased expression of 1,25-D3 inactivating enzyme, (24-hydroxylase - CYP24A1), has been observed in numerous thyroid cancer cell lines after calcitriol treatment in vitro. We examined the expression of CYP24A1 as well as the activating 1-α-hydroxylase (CYP27B1) gene in human thyroid cancer tissue.Methods:...

ea0029p1838 | Thyroid cancer | ICEECE2012

Comparative examination of somatic oncogene mutation normal and pathologic thyroid tissues of Hungarian patients

Tobias B , Balla B. , Kosa J. , Horanyi J. , Takacs I. , Bolony E. , Halaszlaki C. , Nagy Z. , Speer G. , Jaray B. , Szekely E. , Istok R. , Lakatos P.

It is established that somatic oncogene mutation (BRAF, NRAS, HRAS, KRAS) and gene translocations (RET/PTC, PAX8/PPAR-gamma) are associated with the development of thyroid cancer. Somatic single nucleotide polymorphisms were analyzed by LigthCycler melting method, while translocations were identified by real-time polymerase chain reaction technique. In 22 intraoperative thyroid tissue samples (11 pathologic and 11 normal). In tumorous sample 3 BRAF, 2 NRAS and one HRAS mutatio...