Endocrine Abstracts

Metyrapone is a potent inhibitor of the conversion of 11-deoxycortisol (11-DOC) to cortisol and is used in the treatment of Cushing's syndrome. This study has assessed the clinical significance of 11-DOC cross-reaction in five serum cortisol assays provided on automated immunoassay analysers. Cross-reaction was determined from the linear regression of increase in measured cortisol against increasing levels of 11-DOC (0, 1590, 4310, 6490, 7040 nmol/L) added to a serum pool. In ...

Since menarche is the landmark for the beginning of fertility and menopause marks the end of a women’s reproductive lifespan genetics of fertility as well as infertility will be discussed taking recent GWAS data on both menarche and menopause into account.Recently, 30 new loci for age at menarche were identified in a meta-analysis of 32 genome-wide association studies (GWAS) in women of European descent. In addition to two known loci the new loci in...

The standard technique for the functional imaging of pheochromocytoma and paraganglioma (PPGL) is [123I]-metaiodobenzylguanidine single photon emission computed tomography (MIBG SPECT). However, metastases are more accurately detected by 2-[18F]-Fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET). In a large prospective study of 216 patients evaluated at the NIH for benign or malignant PPGL, we investigated the sensitivity and specificity of FDG PET ...

Background - Adverse fetal nutritional supply results in programmed endothelial dysfunction and hypertension in offspring. Nitric Oxide Synthase (eNOS), Endothelin-1 (ET-1), and human Cationic Amino acid Transporter-1 (hCAT-1) are key players in endothelial function. We have shown that hCAT-1 is down-regulated in smaller neonates. One possible explanatory mechanism is DNA methylation, which reduces gene expression. In mice and rat models maternal diets with altered leve...

Introduction: We report a rare case of hyperandrogenism associated with portal hypertension as a result of Alagille syndrome.Case report: 21-yr old female presented with primary amenorrhoea and mild hirsutism. There was no history of delayed puberty or acne. Past medical history: Alagille syndrome (biliary tree hypoplasia, liver disease, portal hypertension, splenomegaly, Barrett’s oesophagus and pulmonary stenosis). Drug ...

Introduction: We report a rare case of hyperandrogenism associated with portal hypertension as a result of Alagille syndrome.Case report: 21-yr old female presented with primary amenorrhoea and mild hirsutism. There was no history of delayed puberty or acne. Past medical history: Alagille syndrome (biliary tree hypoplasia, liver disease, portal hypertension, splenomegaly, Barrett’s oesophagus and pulmonary stenosis). Drug ...

Risk of cardiovascular disease is higher for patients with diabetes and dyslipidemia. Known risk factors include elevated triglycerides (TG), total cholesterol (TC), LDL, and low HDL. The log(TG: HDL), known as Atherogenic Index of Plasma (AIP), is inversely correlated with LDL particle size (r=-0.78) and provides another marker of coronary heart disease (CHD) risk. Low-risk CHD cohorts have negative AIP values; high-risk cohorts have positive values. Patients with type 2 diab...

Disturbances of thyroid hormones produce clinical symptoms but hormonal level at which this happens vary from patient to patient. In order to determine how much hormonal change patients can tolerate before developing symptoms we retrospectively collected data of 86 hyperthyroid and 48 hypothyroid patients, 120 females and 14 males aged 28–85 and 23–74 yrs respectively. We included only patients who at some time during treatment had abnormal values of TSH and/or thyro...

Androgen deficiency may contribute to sexual dysfunction in hypoadrenalism but its role in normal female physiology is uncertain. The aim of this study was to determine the role of androgens in the aetiology of sexual dysfunction in healthy women. Twenty-nine premenopausal women with loss of libido (subjects) and 13 healthy females (controls) were studied. They were aged 18 to 45 years and in a stable heterosexual relationship. Venous blood was taken at 9 am in the follicular ...

Introduction: The management of type 1 diabetes (T1D) in young children can be extremely challenging due to high insulin sensitivity, unpredictable eating and activity and difficulty recognizing symptoms of hypoglycaemia. Continuous subcutaneous insulin infusion (CSII) therapy is beneficial in managing young children, however the small insulin doses required challenge the accuracy of standard concentration (100 IU/ml) CSII.Case report and literature revi...