Searchable abstracts of presentations at key conferences in endocrinology

ea0039ep4 | Adrenal | BSPED2015

Discordance between the cortisol dose for replacement and that required for suppression of androstenedione (A4) and 17 hydroxyprogesterone (17OHP) in congenital adrenal hyperplasia

Charmandari Evangelia , Hindmarsh Peter

Androstenedione and 17OHP are often used as measures of cortisol replacement in congenital adrenal hyperplasia (CAH) rather than cortisol itself. Very little is known of the dose response relationships between cortisol and A4 and 17OHP.We have studied the relationship between 24 h serum cortisol, 17OHP and A4 in 33 (18M) children with CAH due to P450c21 deficiency. 24 h serum cortisol and 17OHP profiles were constructed using 20 min sampling intervals an...

ea0013p267 | Steroids | SFEBES2007

Identification of a novel, point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor-α (hGRα) gene and molecular characterization of the mutant receptor hGRαF737L

Charmandari Evangelia , Kino Tomoshige , Ichijo Takamasa , Zachman Keith , Chrousos George

Background: Generalized glucocorticoid resistance is a rare condition characterized by partial, end-organ insensitivity to glucocorticoids, compensatory elevations in ACTH and cortisol secretion, and increased production of adrenal steroids with androgenic and/or mineralocorticoid activity. We identified a new case of glucocorticoid resistance caused by a novel, heterozygous point mutation at nucleotide position 2209 (T → C) of the hGRα gene, resulting in phenylalan...

ea0090rc7.6 | Rapid Communications 7: Pituitary and Neuroendocrinology 2 | ECE2023

Acquired Hypothalamic dysfunction in childhood: “What do patients need? ”

van Roessel Ichelle , de Graaf Johan , Biermasz Nienke , Charmandari Evangelia , van Santen Hanneke

Introduction: Hypothalamic dysfunction (HD) during childhood can occur due to (treatment of) a suprasellar brain tumor. HD may not only result in pituitary dysfunction, but also in severe hyperphagia, decreased energy expenditure, diabetes insipidus with adipsia, disturbance of circadian rhythm, temperature dysregulation and behavioral problems. Currently there is no effective treatment for HD while HD has major impact on quality of life. To provide optimal care and to design ...

ea0070aep702 | Pituitary and Neuroendocrinology | ECE2020

Gigantism associated with hyperprolactinemia due to a pituitary macroadenoma in an adolescent girl

Nikitas Skarakis Spyridon , Chroussos Georgios , Kanaka-Gantenbein Christina , Charmandari Evangelia , Karachaliou Feneli

Aim: To describe the clinical course of an adolescent girl with gigantism.Background and methodsIn young persons with open epiphyses, overproduction of GH results in gigantism, with consequent longitudinal growth acceleration1. Pituitary gigantism is extremely rare, and its cause in the majority of patients is a pituitary adenoma1. Here, we present a 12, 5 years-old girl investigated for tall stature [183.5&#1...

ea0027oc1.5 | Oral Communications 1 | BSPED2011

Deconvolution analysis of 24 h serum cortisol profiles informs the amount and distribution of hydrocortsione replacement therapy

Hindmarsh Peter , Hill Nathan , Dattani Mehul , Peters Catherine , Charmandari Evangelia , Matthews David

Introduction: Glucocorticoid replacement therapy uses twice or thrice daily regimens of hydrocortisone (HC) with variable distribution of the dose over the day. Deconvolution analysis determines the mass of hormone that needs to be secreted to attain a particular serum concentration. We have used this methodology to determine the amount and distribution of cortisol over a 24 h period.Methods: Seventy-nine adults (41M) aged 60–74 years and 30 childre...