Searchable abstracts of presentations at key conferences in endocrinology

ea0016p20 | Adrenal | ECE2008

Diagnostic potential of GC--MS urinary steroid profiling in the diagnosis of CAH due to 21-OH deficiency in neonates and infants

Hartmann Michaela , Felszeghy Eniko , Wudy Stefan

21-hydroxylase deficiency is by far (>90%) the most common cause of congenital adrenal hyperplasia (CAH). Undiagnosed and untreated 21-hydoxylase deficiency bears the risk of salt loss, adrenal insufficiency and sex misassignment, therefore early diagnosis is very important. The most common way to identify children affected by the enzyme defect is the measurement of blood levels of adrenal hormones and precursor steroids, which is an invasive method and may lead to inaccur...

ea0022p55 | Adrenal | ECE2010

Influence of various clinical variables and storage conditions on urinary cortisol levels: gas chromatography–mass spectrometry (GC–MS) versus immunoassay

Deutschbein Timo , Broecker-Preuss Martina , Hartmann Michaela , Wudy Stefan , Althoff Ricarda , Mann Klaus , Petersenn Stephan

Introduction: Measurement of urinary cortisol is often used to assess disease activity in patients with suspected or proven hypercortisolism. However, specific reference ranges are lacking for some of the newer assays. This study analyzed upper limits of normal (ULN, mean+2S.D.) for two analytical procedures (GC–MS, ECLIA) in relation to various independent variables. Besides, the influence of different storage conditions was investigated (by ECLIA).<p ...

ea0016p34 | Adrenal | ECE2008

Renal excretion rates of free cortisol, free cortisone and dehydroepiandrosterone metabolites, but not renal indices of cortisol secretion are associated with urinary volume in healthy children

Shi Lije , Wudy Stefan A , Maser-Gluth Christiane , Hartmann Michaela F , Remer Thomas

Background: In experimental studies, a high fluid intake and a corresponding high urine volume have been shown to increase renal excretion rates of urinary free cortisol (UFF) and cortisone (UFE) in adults. We aimed to examine whether 24-h urinary steroid excretion rates are also affected by urine volume in children.Methods: In 24-h urine samples of 100 prepubertal and 100 pubertal healthy children UFF, UFE, tetrahydrocortisol, 5α-tetrahydrocortisol...

ea0041ep710 | Male Reproduction | ECE2016

Androgen profiling in males of two high-fertility mouse models does not reveal a distinct phenotype but provides new reference values for androgens in mice

Weitzel Joachim M , Michaelis Marten , Sobczak Alexander , Langhammer Martina , Nurnberg Gerd , Reinsch Norbert , Hartmann Michaela F , Wudy Stefan A , Schon Jennifer

Animal models are valuable tools in fertility research. Worldwide, there are more than 1000 transgenic or knockout mouse models available showing a reproductive phenotype; almost all of them exhibit an infertile or at least subfertile phenotype. By contrast, animal models revealing an improved fertility phenotype are barely described. We developed two outbred mouse models exhibiting a ‘high-fertility’ phenotype. These mouse lines were generated via selection over a t...

ea0022p23 | Adrenal | ECE2010

Sunitinib decreases adrenocortical cancer cell proliferation and specifically inhibits adrenal steroidogenesis

Reuss Miriam , Kroiss Matthias , Johanssen Sarah , Beyer Melanie , Zink Martina , Hartmann Michaela , Dhir Vivek , Wudy Stefan , Arlt Wiebke , Sbiera Silviu , Allolio Bruno , Fassnacht Martin

Background: The multi-tyrosine kinase inhibitor sunitinib is approved for advanced renal cell carcinoma and gastrointestinal stroma tumors. It targets both tumor vessels and malignant cells. Animal experiments have pointed to a direct adrenotoxic effect of the drug.Aims: We hypothesized that sunitinib may inhibit proliferation of adrenocortical cancer (ACC) cells and influence adrenal steroid hormone synthesis.Results: Sunitinib re...

ea0016p23 | Adrenal | ECE2008

Effects of free fatty acids on adrenocorticotropin secretion and metabolic glucocorticoid pattern in healthy young women

Mai Knut , Reinecke Franziska , Bobbert Thomas , Andres Janin , Bahr Volker , Wudy Stefan , Hartmann Michaela , Maser-Gluth Christiane , Diederich Sven , Pfeiffer Andreas , Spranger Joachim

Introduction: Free fatty acids (FFAs) affect pituitary function. While no effect of FFAs on ACTH and cortisol seems to exist in men, data in women are somewhat controversial. Therefore, we aimed to assess the effect of an acute increase of circulating FFA levels induced by the infusion of a lipid-heparin infusion on ACTH and cortisol secretion in healthy young women.Methods: Following a 10-h overnight fast 13 healthy female volunteers were investigated i...

ea0016p22 | Adrenal | ECE2008

Free fatty acids affect urinary excretion of androgen precursors thereby linking metabolism and hyperandrogenemia in vivo: results of a randomized, controlled trial

Mai Knut , Bobbert Thomas , Reinecke Franziska , Andres Janin , Bahr Volker , Maser-Gluth Christiane , Wudy Stefan , Hartmann Michaela , Mohlig Matthias , Weickert Martin O , Schulte Heinrich , Diederich Sven , Pfeiffer Andreas , Spranger Joachim

Context: The polycystic ovarian syndrome (PCOS) is characterized by hyperandrogenism and associated with obesity and impaired glucose metabolism. Despite the high prevalence of PCOS and the considerable clinical impact, the precise interplay between metabolism and hyperandrogenemia is not entirely clear. We therefore aimed to analyse the relation between circulating free fatty acids (FFAs) and androgen metabolism in vivo in women.Design and partic...

ea0084op-08-37 | Oral Session 8: Basic 2 | ETA2022

Resistance to thyroid hormone alpha: molecular, biochemical and physiological approach to diagnosis and therapy

Agostini Maura , Pietzner Maik , Marelli Federica , Prapa Matina , Moran Carla , Edward Visser W. , Brown Dave , Thomas Ellen , Schoenmakers Erik , Romartinez-Alonso Beatriz , Scheuplein Rabea , Tylki-Szymanska Anna , Lyons Greta , Watson Laura , Rajanayagam Odelia , Schwedhelm Edzard , F. Hartmann Michaela , Wudy Stefan , Probst Maiken , MacDonald Stephen , Thomas William , Arlt Wiebke , Volker Uwe , M. Main Katharina , Feldt-Rasmussen Ulla , T. Dattani Mehul , Koren Dahll Louise , Demir Korcan , Kara Cengiz , Kirbiyik Ozgur , Mammadova Jamala , Cayır Atilla , Yarali Oguzhan , Phan-Hug Franziska , Sakremath Rajesh , Mohamed Zainaba , Shinawi Marwan , Gill Harpreet , pacaud Daniele , Perrier Renee , Poke Gemma , Hunter Wendy , Douzgou Sofia , Wakeling Emma , Gardham Alice , Lim Derek , Shears Deborah , Freel Marie , Omladic Jasna , Tansek Mojca , Writzl Karin , Farooqi Sadaf , Kopp Peter , Schwabe John , Persani Luca , Chatterjee Krishna

Objectives: THRA mutations cause Resistance to Thyroid Hormone α (RTHα), an underdiagnosed disorder with hypothyroid features but near-normal thyroid function tests (TFTs). We developed a pathway, combining molecular analyses, new biomarkers and physiological measurements, to better diagnose and treat this disorder.Methods: Structural and functional analyses of THRA variants, discovered by next generation sequencing in specifi...