Endocrine Abstracts

Ron G Rosenfeld, Lucile Packard Foundation for Children's Health, Stanford University, Palo Alto, CA., USA. AbstractRon G Rosenfeld, MD, is the Senior Vice-President for Medical Affairs at the Lucile Packard Foundation for Children's Health at Stanford University. He is Professor of Pediatrics at Stanford University, as well as Professor and Chair (emeritus) of Pediatrics and of Cell and Developmental Biology at Oregon...

Orexin-A and orexin-B orchestrate their diverse central and peripheral effects via two G-protein coupled receptors, OX1R and OX2R, which activate multiple G-proteins. They are involved in a host of physiological processes including, steroidogenesis, appetite control and energy regulation. Whilst some signalling mechanisms have been proposed for individual recombinant orexin receptors in generic mammalian cell types, it is clear that the peripheral effects of orexin are spatial...

The glycoprotein hormone, TSH, is synthesized and secreted by thyrotrophs in the anterior pituitary gland. It acts at the TSH receptor (TSHR), a 7-transmembrane G-protein coupled cell membrane receptor expressed in thyroid follicular cells. The TSHR, thus, plays a key role in the regulation of thyroid status and growth of the thyroid gland. In recent years TSHR expression has also been identified in a wide variety of extra-thyroidal tissues including: anterior pituitary; hypot...

Background: TPTD treatment has been shown to reduce vertebral and non-vertebral fracture risk in postmenopausal osteoporosis efficiently. However, gains in bone mass achieved by this treatment are almost lost 2 years after cessation of treatment, unless consecutively followed by an antiresorptive treatment such as alendronate.Subjects and methods: In the present prospective randomised open-labelled study in 52 pmp women, we investigated the effect of eit...

Introduction: Primary and secondary hyperparathyroidism may coexist unrelated to chronic nephropathy. It can occur more often than expected, especially in elderly population with malabsorption syndrome or /and liver diseases.Case report: A women 60 years of age was admitted to hospital due to long standing ostealgia. The primary hyperparathyroidism was suspected. The medical history presented recently diagnosed coeliac disease and cryptogenic hepatic cir...

Autoimmune hypothalamitis has been implicated in idiopathic central diabetes insipidus (DI) due to antibodies against vasopressin producing hypothalamic cells. Lymphocytic infiltration of hypothalamus has been reported in patients with lymphocytic hypophysitis (LH) manifesting as hypopituitarism with DI. These patients can also have other associated autoimmune diseases. Here, we report a case of a male patient who presented with headache, poor orientation, partial hypopituitar...

Progressive osseous heteroplasia (POH, MIM 166350) is a rare autosomal dominant disorder characterised by extensive dermal ossification during childhood, followed by widespread heterotopic ossification of skeletal muscle and deep connective tissue. Recently, genetic basis was found to be common with Albright’s hereditary osteodystrophy (AHO) (Shore et al., 2002): paternally inherited inactivating mutations of the GNAS1 gene were found. GNAS1 is the ge...

By including the synthetic glucocorticoid (GC), dexamethasone, in the maternal drinking water on gestational days 16–19 (0.5 μg/ml) or days 1–7 after birth (1.0 μg/ml), we have recently demonstrated (McArthur et al. J. Neuroendocrinol. 17: 475) that perinatal exposure of rat pups to GCs increased dopaminergic (DA) cell numbers in the adult ventral tegmental area (VTA) at −5.1 to −5.4 mm relative to Bregma (level I). In order to investig...

Introduction: Testicular germ cell tumours are the most frequent cancer of young men. Epidemiological and clinical data have suggested that fetal or perinatal exposure to environmental endocrine disruptors (EEDs) with estrogenic effects, could participate to testicular germ cell carcinogenesis. However, EEDs (like bisphenol A (BPA) are often weak ligands for classical nuclear estrogen receptors.Using a human seminoma cell line (JKT-1), devoid of ERα...

The calcium-sensing receptor (CaSR) belongs to family C of G-protein coupled receptors (GPCRs) that bind glutamate, GABA, taste molecules and pheromones. Loss-of-function mutations of the CASR gene located on chromosome 3q21–24, cause familial benign hypocalciuric hypercalcaemia type 1 (FBHH1). The genes causing FBHH2 and FBHH3, whose chromosomal locations are on 19p and 19q13.3, respectively, remain unknown. FBHH3, sometimes called the Oklahoma variant (FBHHO...