Endocrine Abstracts

Disorders of sex development (DSD, previously termed intersex disorders) embrace a broad range of pathologies encompassing the undervirilised male, the virilised female, true hermaphroditism (defined by the presence of ovotestes) and sex reversal (e.g. 46XX male). For those infants born with genital abnormalities that make immediate gender assignment not possible, there is an urgent need for specialist input to achieve a diagnosis and develop a management plan. The DSD team wi...

In euthyroid women normal pregnancy is associated with a rise in free thyroxine and fall in TSH levels attributable to high levels of hCG in the first trimester. In hypothyroid women free thyroxine tends to fall and TSH rises if the dose of thyroxine is not raised, due to further pregnancy - associated changes including a rapid rise in thyroxine-binding globulin and increased renal clearance and placental metabolism of thyroid hormone. Fetal thyroid development occurs by 12 we...

Alterations in sodium reabsorption in collecting duct epithelium can have severe implications for the normal function of the nephron and may precipitate the development of secondary hypertension. One of the principal protein kinases involved in sodium transport in the nephron is the serum and glucocorticoid regulated kinase (SGK1) that mediates translocation and insertion of the epithelial sodium channel (ENaC) into the plasma membrane. SGK1 appears to be increased in the kidn...

Introduction: PCSK-9 (proprotein convertase subtilisin/kexin type 9) inhibitors are monoclonal antibodies that affect metabolism of low-density lipoprotein (LDL) by binding to the LDL receptor and promoting lysosomal degradation. There are two pcsk-9 inhibitors currently available: alirocumab (Praulent) and evolocumab (Repatha) which are administered subcutaneously every 14 days. Two large randomized studies (FOURIER, ODYSSEY) have shown that pcsk-9 inhibitors reduce LDL-chole...

Background: Approximately 1000 children per annum born small for gestational age (SGA) will fail to catch-up and become eligible for GH treatment. The reason for this failed growth is often not defined. Understanding mechanisms that cause growth failure in SGA and finding potential biomarkers of poor growth is therefore important. We are using the new technique of Metabolomics as one avenue to address this. Metabolomics is the quantification of small molecule metabolites in a ...

Background: IRS consists of ≥3 of the following components: obesity (BMI >98th centile), abnormal insulin glucose homeostasis, hypertension, dyslipidaemia. Elevated serum alanine aminotransferase (ALT) is a marker of NAFLD.Objective: To define the prevalence of IRS and NAFLD in obese children referred to our centre.Methods: subjects: mean BMI-SDS +6 (+0.6 to +14), median age 13.4 years (3–19), female 66%, British Asi...

Background and Aims: Insulin glargine is a long acting insulin analog that mimics normal basal insulin secretion without pronounced peaks. The aim of this study was to compare insulin glargine with NPH insulin for basal insulin supply in patients with type 1 diabetes.Materials and Methods: A total of 48 type 1 diabetics (mean age 27 yr, BMI 23,1 kg/m2) on long term intensive insulin therapy (IIT) were randomized into 3 different regimens of ba...

Background: The most common method for evaluation of a suspicious thyroid nodule is a fine needle aspiration biopsy (FNAB). Together with ultrasound examination, thyroid scanning using pertechnetate and functional thyroid testing it helps in distinguishing between benign and malignant disease.Objective: Aim of this study is to assess accuracy of FNAB in the diagnostic evaluation of thyroid nodules.Patients: We retrospectively analy...

Background: Bilateral total adrenalectomy (TA), despite causing persistent adrenal insufficiency with lifetime replacement of corticosteroids, is the method of choice in patients with bilateral pheochromocytoma. Partial adrenalectomy (PA) is an alternative approach that aims to balance tumor removal while maintaining adrenal function, although the oncological completeness of the procedure is questionable.Objective: The aim of this systematic review and m...