Endocrine Abstracts

We present two cases of glucocorticoid remediable aldosteronism (GRA) diagnosed through screening the children of an affected mother.GRA is a rare inherited cause of hypertension in children. A monogenic defect produces a chimeric gene, which codes for two enzymes involved in the production of aldosterone and cortisol. This leads to adrenocorticotropin stimulated aldosterone production. GRA is thought to account for 1% of primary aldosteronism with aroun...

Introduction: Although type 1 diabetes is the most common type of diabetes in children, with the steady increase in type 2 and rare forms of diabetes, it may be sometimes difficult to ascertain the type of diabetes at the time of presentation. Some children present with a combination of features and do not fit into one of the classical types of diabetes. The rapid progress in the molecular genetics has helped to identify the specific diagnosis for these rare forms of diabetes....

Osteoclasts are derived from macrophagic/monocytic lineage cells and represent differentiated, multinucleated cells specialized in resorbing bone. An increased number and activity of osteoclasts is the hallmark of various bone diseases, including osteoporosis, rheumatoid arthritis, and skeletal metastases. Recently, receptor activator of nuclear factor-κB ligand (RANKL) has been identified as the stem cell factor for osteoclasts. RANKL promotes osteoclast formation, funct...

Lorenz C Hofbauer, Germany AbstractThe European Journal of Endocrinology Prize is awarded to a candidate who has significantly contributed to the advancement of the knowledge in the field of endocrinology through publication. This year’s recipient is Dr Lorenz Hofbauer. The prize will be presented as part of the ECE 2010 opening ceremony where Dr Hofbauer will deliver his lecture. Dr Hofbau...

Generation of hydrogen peroxide (H2O2) in thyroid cells is essential for the synthesis of thyroid hormone. H2O2 is produced by the Dual Oxidase 2 (DUOX2) at the apical membrane of the thyrocyte, where it is required by thyroperoxidase for the iodination of thyroglobulin. A dual oxidase maturation factor 2 (DUOXA2) was recently identified as an endoplasmic reticulum-resident protein required for expression of DUOX2 activity. DUOX2 and...

Men and women who compete in sporting events at the international level perform a tremendous volume of exercise training. This training is necessary to promote the high level of adaptations in the musculoskeletal, cardiovascular and neuroendocrine systems which are required in order to improve human performance. The incentives to perform such rigorous and demanding exercise training, and compete well in sporting activities, are substantial. An Olympic medal can result in large...

Glucocorticoids have profound effects on the brain, particularly during development and during the ageing process. The glucocorticoid metabolising enzymes, 11beta-hydroxysteroid dehydrogenases (11β-HSDs) type 1 and 2, interconvert active corticosterone (or cortisol) and inactive 11keto-derivatives to modify intracellular glucocorticoid levels. Hence, these enzymes add another layer of complexity to glucoocorticoid action in addition to circulating hormone and receptor (MR...

A 34-year-old lady presented with polyuria and polydipsia 21 months post Caesarian delivery of twins. She had no peri-partum complications but immediately post partum, had noted increased thirst – she noted a particular strong craving for cold soft drinks. She had obesity and a positive family history for diabetes but screening for diabetes was negative. She also noted cessation of her menses. A gynaecologist who assessed her found her to have mild hyperprolactinaemia for...

Ambiguity of the external genitalia constitutes an emergency requiring evaluation by a medical team. Issues of prime importance to be dealt with are: 1) the pathogenetic mechanism involved, 2) the sex assignment, and 3) the timing of corrective surgery. Non-palpable gonads indicate an XX individual, virilized during fetal life from androgens originating from the mother or the fetal adrenal. In such cases assignment should be on the female sex. Palpable gonads denote an XY unde...

Objective: Maternal and female fetal virilization is subject to exaggerating androgen secretion of pregnancy luteomas which is associated with the protective capacity of placenta safeguard against hormone conversion and presents with variable extent of female pesudohermapharotidism as exposure in critical gestational stage.Patient(s): A nulligravida woman suffering from bilateral hydronephrosis and recurrent acute pyelonephritis caused by bilateral solid...