Searchable abstracts of presentations at key conferences in endocrinology

ea0011p748 | Steroids | ECE2006

Prenatal diagnosis of the “low-oestriol” disorders Smith-Lemli-Opitz syndrome (SLOS), oxidoreductase deficiency (ORD) and sulfatase deficienciy (STSD)

Shackleton CHL , Craig W , Arlt W , Marcos J

Introduction: Unconjugated oestriol (uE3) is often measured in maternal serum during second trimester prenatal screening. While oestriol itself has little physiological importance, low values can indicate the presence of a disorder in feto-placental synthesis with potential health implications. Fetal steroids pass through the maternal circulation and into the urine so analysis of maternal fluids can be used for diagnosing causes of low oestriol.<p class="...

ea0021pl7biog | Society for Endocrinology Medal Lecture | SFEBES2009

Society for Endocrinology Medal Lecture

Arlt W

W Arlt, School of Clinical and Experimental Medicine, Centre for Endocrinology, Diabetes and Metabolism, University of Birmingham, Birmingham, UK AbstractProf. Wiebke Arlt received her undergraduate medical training at the University of Cologne in Germany. She obtained her MD degree in 1993 with distinction and trained in General Medicine and Endocrinology and Diabetes at the University Hospital Würzburg under th...

ea0019p318 | Steroids | SFEBES2009

Associated health conditions and occupational status are risk factors for adrenal crisis in treated Addison’s disease

White K , Arlt W , Wass J , Elliott A

Patients with chronic adrenal insufficiency (AddisonÂ’s) have mildly but significantly increased mortality from cardiovascular, malignant, and infectious diseases, predominantly pneumonia (Bergthorsdottir et al. 2006). Death from adrenal crisis is rare and largely preventable, but life-threatening adrenal crisis is a regular event in treated AddisonÂ’s with a previously reported annual incidence of 8% in the UK.We analysed the frequency of...

ea0011p406 | Diabetes, metabolism and cardiovascular | ECE2006

Dehydroepiandrosterone inhibits differentiation, proliferation and 11β-hydroxysteroid dehydrogenase type 1 activity in human preadipocytes

McNelis J , Bujalska IJ , Stewart PM , Arlt W

The adrenal steroid dehydroepiandrosterone (DHEA) has been shown in vivo, to mimic the effects of peroxosome proliferator-activated receptor (PPAR) ligands and oppose those of glucocorticoids, thus producing beneficial effects on insulin sensitivity and adipogenesis in obese and diabetic rodents. Furthermore, DHEA treatment has recently been shown to reduce subcutaneous and visceral fat in humans in vivo. However, the mechanism by which DHEA produces these anti-a...

ea0011p768 | Steroids | ECE2006

Phenotypic variability in P450 oxidoreductase deficiency may be caused by differential effects of P450 oxidoreductase mutations on steroidogenesis

Dhir V , Ivison HE , Doherty AJ , Stewart PM , Arlt W

Without adequate treatment patients with acromegaly die prematurely from cardiovascular disease (CVD); however the contribution of atherosclerosis in this process is controversial. Increased carotid IMT is an early morphological marker of atherosclerosis and predictor of subsequent cardiovascular events. Contradictory data exist regarding IMT in patients with acromegaly.We measured carotid IMT in 79 patients with acromegaly (47 male, mean age 55±14 ...

ea0005p14 | Clinical Case Reports | BES2003

Combined pituitary hormone deficiency (CPHD) with adult-onset corticotropin deficiency but without evidence for PROP-1 or HESX1 mutations

Hammer F , Hahner S , Allolio B , Arlt W

Combined pituitary hormone deficiency (CPHD) denotes impaired production of growth hormone (GH) and of one or more other pituitary trophic hormones. Distinct subtypes of CPHD have been shown to be due to mutations in different homeobox transcription factors, which are involved in pituitary development and organogenesis. So far, only PROP-1 and HESX1 mutations have been associated with CPHD comprising corticotropin deficiency. Here we report two patients with a novel form of CP...

ea0005p24 | Clinical Case Reports | BES2003

Vanishing bone: Stabilisation of Gorham-Stout disease during antiresorptive therapy

Hammer F , Wesselmann U , Tunkel J , Arlt W , Allolio B

Gorham-Stout disease is a rare, potentially life threatening skeletal disorder of unknown aetiology. It is characterized by local proliferation of abnormal vessels associated with profound osteolysis. Optimum treatment remains to be established. Herein we report the case of a 45-year-old woman who presented with left-sided thoracic pain, which had gradually increased over the last nine months. Physical examination revealed a primary lymphoedema of the left arm, which had devel...

ea0029oc16.5 | Female Reproduction Clinical | ICEECE2012

Urinary glucocorticoid metabolite excretion is associated with insulin resistance independent of body mass index (BMI) in patients with polycystic ovary syndrome

O'Reilly M. , Hazlehurst J. , Lebbe M. , Hughes B. , Stewart P. , Tomlinson J. , Arlt W.

Polycystic ovary syndrome (PCOS) is a triad of insulin resistance, hyperandrogenism and anovulation. PCOS is associated with increased adrenocortical drive, which may have adverse metabolic consequences. Here we analysed the relationship of urinary androgen and glucocorticoid metabolite excretion with insulin resistance in a large PCOS cohort.We compared results from 127 PCOS patients (Rotterdam criteria) with 100 BMI-matched controls. All subjects under...

ea0029p9 | Adrenal cortex | ICEECE2012

Progressive adrenal insufficiency in a patient with 46,XY DSD caused by two novel mutations in the cytochrome P450 side-chain cleavage (CYP11A1) gene

Parajes S. , But B. , Chan A. , Rose I. , Taylor A. , Griffin A. , Dhir V. , Arlt W. , Krone N.

Background: Cytochrome P450 side-chain cleavage enzyme (CYP11A1) catalyses the first and rate-limiting step of steroidogenesis. CYP11A1 firstly converts cholesterol into 22R-hydroxycholesterol, which relies on mitochondrial steroidogenic acute regulatory protein (StAR)-mediated cholesterol import. Two further StAR-independent CYP11A1 reactions facilitate pregnenolone biosynthesis. CYP11A1 deficiency is rare and manifests with adrenal insufficiency (AI), and, in 46,XY individua...