hrp0097p2-188 | Adrenals and HPA Axis | ESPE2023

7-year-old girl as compound heterozygote of non-classic congenital adrenal hyperplasia

Bali Maria , Sotiriou Spyridoula , Magoula Marousa , Kalamara Panagiota , Papafotiou Chrysanthe , Papagiannidi Marina , Ioannidou Gerina

Background: Deficiency of 21-hydroxylase (CYP21A2) is responsible of 90-95% of all cases of congenital adrenal hyperplasia (CAH). CYP21A2 converts 17OHprogesterone into 11deoxycortisol and is encoded by the CYP21A2 gene on chromosome 6p21.3, within the class III region of the highly polymorphic HLA histocompatibility complex. CAH refers to a group of autosomal recessive disorders. Nonclassic CAH (NCAH) is milder and more common, however it may not be identifie...

hrp0097p2-216 | Adrenals and HPA Axis | ESPE2023

Non classic congenital adrenal hyperplasia caused by mutations in CYP21A2

Magoula Marousa , Sotiriou Spyridoula , Bali Maria , Kalamara Panagiota , Papafotiou Chrysanthe , Papagiannidi Marina , Ioannidou Gerina

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis caused by the deficiency of 21-hydroxylase which convert 17-hydroxyprogesterone to 11-deoxycortisol. A variety of mutations in one or more genes encoding enzymes essential for cortisol synthesis leads to a spectrum of disorders and disease severity. In general, complete or nearly complete enzymatic defects result in overt adrenal insufficien...

hrp0086p1-p21 | Adrenal P1 | ESPE2016

Increased Salivary and Hair Cortisol and Decreased Salivary Alpha-Amylase Concentrations in Obese Prepubertal Girls

Papafotiou Chrysanthe , Christaki Eirini , van den Akker Erica , Wester Vincent , Apostolakou Filia , Papassotiriou Ioannis , Chrousos George , Pervanidou Panagiota

Background: Obesity has been associated with perturbations of the hypothalamic┬ľpituitary┬ľadrenal (HPA) axis and the sympathetic nervous system (SNS). Scalp hair cortisol has been recognized as a reliable index of long-term cortisol concentrations.Objective and hypotheses: Aim of this study was to compare indices of HPA axis and SNS activities, such as, respectively, the salivary cortisol and alpha-amylase diurnal patterns, and their relations i...

hrp0097p2-139 | Adrenals and HPA Axis | ESPE2023

A 6-year-old boy with Duchenne Muscular Dystrophy and acute adrenal insufficiency: a case report

Magoula Marousa , Ioannidou Gerina , Sotiriou Spyridoula , Vasilakis Ioannis-Anargyros , Mpali Maria , Kalamata Panagiota , Athanasopoulou Evianna , Papafotiou Chrysanthe

Background: Adrenal crisis is a life-threatening condition caused by either primary adrenal insufficiencyor hypothalamic-pituitary-adrenal (HPA) axis dysfunction, commonly due to chronic use of high-dose glucocorticoids. Clinical presentation, often with gastrointestinal symptoms (weakness, nausea, vomiting, epigastric pain) poses clinical challenges, sometimes leading to an incorrect diagnosis of gastroenteritis.Material:</stron...

hrp0086p1-p478 | Fat Metabolism and Obesity P1 | ESPE2016

BMI Correlates Positively with Hair Cortisol, whereas Excessive Body Fat Correlates Positively with Hair Cortisol: Salivary Cortisol and Fasting Insulin Concentrations in Prepubertal Girls

Christaki Eirini , Papafotiou Chrysanthe , Bastaki Despoina , van den Akker Erica L.T. , Wester Vincent L. , Boschiero Dario , Pervanidou Panagiota , Kanaka-Gantenbein Christina , Chrousos George

Background: Chronic stress and increased adiposity have been associated with each other in children. Further studies are needed, however, to evaluate both the directionality of this association and the mediating metabolic mechanisms.Objective and hypotheses: This study investigates the interrelations between BMI, body composition parameters, indices of the stress response, such as hair and salivary cortisol levels, and, metabolic mediators, such as insul...