Searchable abstracts of presentations at key conferences in endocrinology

ea0019p134 | Diabetes, Metabolism and Cardiovascular | SFEBES2009

Downregulation of hepatic glucose 6-phosphatase-alpha in patients with nonalcoholic fatty liver

Konopelska S , Kienitz T , Quinkler M

Background: Microsomal glucose-6-phosphatase-alpha (G6Pase-alpha) and glucose-6-phosphate transporter (G6PT) perform the terminal step in both glycogenolysis and gluconeogenesis. Deficiency of G6Pase-alpha leads to glycogen storage disease type 1a, whereas deficiency of G6PT leads to glycogen storage disease type 1b. Partial inhibition of G6Pase in rats results in increased hepatic triglyceride contents and de novo lipogenesis leading to hepatic steatosis. Hepatic steat...

ea0009p144 | Steroids | BES2005

Increased 5alpha-reductase activity during the luteal phase of the normal menstrual cycle

Quinkler M , Hughes B , Stewart P

During the luteal phase of the menstrual cycle aldosterone increases mainly due to the antagonistic properties of progesterone at the MR and due to estrogen-mediated stimulation of angiotensinogen. Little is known about other steroid-metabolizing enzymes that may influence steroid receptor binding, eg 11beta-HSDs, A-ring reductases. Therefore a group of ten normotensive female volunteers with regular menstrual cycles were studied on day 7 (follicular phase) and day 21 (luteal ...

ea0038p3 | Bone | SFEBES2015

Reduction in daily hydrocortisone dose in adrenal insufficiency improves significantly bone mineral density – results from a 2-years prospective trial

Schulz Julia , Koetz Kathrin , Ventz Manfred , Diederich Sven , Quinkler Marcus

Introduction: Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive life-long glucocorticoid (GC) replacement therapy. Today daily GC doses are still higher than the reported adrenal cortisol production rate, and are not able to reproduce the physiological secretion pattern. This might result in long-term morbidities such as osteoporosis. Until now no prospective trial was performed investigating the long-term effect o...

ea0038p407 | Steroids | SFEBES2015

Conventional vs modified release hydrocortisone in mitotane treated patients with adrenocortical cancer

Weigel Marianne , Hahner Stefanie , Beier Daniela , Zopf Kathrin , Quinkler Marcus

Background: Mitotane is a strong inducer of hepatic CYP3A4 activity (cortisol metabolism) and increases cortisol-binding globulin (CBG). High hydrocortisone dosages are necessary in patients with adrenocortical cancer (ACC) on mitotane treatment. The newly modified release hydrocortisone has not been used in mitotane-treated ACC patients yet.Aim: To compare cortisol (serum and saliva), calculated free serum cortisol and ACTH levels in ACC patients on mit...

ea0035p44 | Adrenal cortex | ECE2014

Bone mineral density does not decrease in patients with adrenal insufficiency on a low daily glucocorticoid dose over a 2 year period

Schulz Julia , Koetz Kathrin , Ventz Manfred , Diederich Sven , Quinkler Marcus

Introduction: Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive glucocorticoid replacement therapy, which might cause osteoporosis.Objective: i) Is bone mineral density (BMD) depending on the height of the daily glucocorticoid dose? ii) Is BMD decreasing over a 2-year period of glucocorticoid replacement therapy?Methods: Prospective, longitudinal study including 56 pati...

ea0028p46 | Clinical practice/governance and case reports | SFEBES2012

Improvement of health-related quality of life in adult women with 21-hydroxylase deficiency over a 7 years period

Quinkler Marcus , Ventz Manfred , Hinz Andreas , Bleicken Benjamin

Introduction: Health related quality of life (HRQoL) is impaired in adult patients with 21-hydroxylase deficiency (21-OHD). Up to now, only cross-sectional and no longitudinal studies are available, and it is not known if HRQoL can be improved in adult 21-OHD patients. Objective: To investigate HRQoL in adult female 21-OHD patients over a longer time span.Methods: Longitudinal, single centre, follow-up study over seven years with three visits including 1...

ea0028p322 | Steroids | SFEBES2012

Modified-release prednisolone increases quality of life compared to standard prednisolone in patients with adrenal insufficiency

Quinkler Marcus , Ventz Manfred , Hinz Andreas , Langenheim Jorinde

Context: Patients with adrenal insufficiency (AI) receive glucocorticoid replacement therapy, which tries to imitate physiological adrenal secretion. However, the first glucocorticoid dose is usually given after waking in the morning resulting in a 3–5 h delay compared to physiological secretion. Impaired quality of life (QoL) might be, in part, due to this delayed dose scheme. Therefore, modified-release glucocorticoid preparations might have therapeutical advantages.</p...

ea0025p9 | Bone | SFEBES2011

Bone mineral density in patients with primary adrenal insufficiency compared to patients with congenital adrenal hyperplasia

Koetz Kathrin , Ventz Manfred , Diederich Sven , Quinkler Marcus

Introduction: Patients with primary adrenal insufficiency (Addison’s disease) and patients with congenital adrenal hyperplasia (CAH) still tend to receive more glucococorticoids than the normal endogenous production in healthy subjects. CAH patients start glucocorticoid treatment usually with diagnosis in their early childhood, whereas Addison’s patients have a later onset of their disease and start of their treatment.Objective: To compare pati...

ea0021p14 | Bone | SFEBES2009

Mutational analysis of the PHEX gene in three patients with X-linked hypophosphatemic rickets: discovery of a novel point mutation

Kienitz Tina , Ventz Manfred , Kaminsky Elke , Quinkler Marcus

Introduction: X-linked hypophosphatemic rickets is the most common form of familial hypophosphatemic rickets. It is caused by a defect in renal phosphate transport leading to phosphate wasting and hypophosphatemia. Furthermore 1,25-dihydroxyvitamin D concentrations are inappropriately normal in regard to hypophosphatemia. Clinical manifestation of the disease are skeletal deformities, short stature, osteomalacia, dental abscesses, bone pain, and loss of hearing. PHEX is locate...

ea0019p319 | Steroids | SFEBES2009

Testosterone increases 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) expression in the rat heart

Michaelis M , Hofmann P , Goetz F , Kienitz T , Quinkler M

Introduction: 11β-HSD1 is the key enzyme of intracellular glucocorticoid regulation by converting inactive cortisone to active cortisol. The latter binds to the glucocorticoid and mineralocorticoid receptor (MR) in the heart. Cortisol excess in Cushing’s syndrome leads to left ventricular hypertrophy. Also androgens cause myocardial remodelling. However, the impact of testosterone on the cardiovascular system is strongly disputed showing beneficial and deleterious ef...