hrp0094p2-19 | Adrenals and HPA Axis | ESPE2021

Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years

Buonocore Federica , Maharaj Avinaash , Qamar Younus , Koehler Katrin , Suntharalingham Jenifer P. , Chan Li F. , Ferraz-de-Souza Bruno , Hughes Claire R. , Lin Lin , Prasad Rathi , Allgrove Jeremy , Andrews Edward T. , Buchanan Charles R. , Cheetham Tim D. , Crowne Elizabeth C. , Davies Justin H. , Gregory John W. , Hindmarsh Peter C. , Hulse Tony , Krone Nils P. , Shah Pratik , Shaikh Mohamad G. , Roberts Catherine , Clayton Peter E. , Dattani Mehul T. , Thomas N. Simon , Huebner Angela , Clark Adrian J. , Metherell Louise A. , Achermann John C. ,

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

hrp0092p2-279 | Thyroid | ESPE2019

Diagnosis of Central Congenital Hypothyroidism and Multiple Pituitary Deficiencies Through a Neonatal Screening Program

Grau Gema , Concepción Fernández María , Artola Elena , Sarasua Ainhoa , Lizarralde Eneritz , Pintos Carla , Vela Amaia , Rodríguez Amaia , Díez Ignacio , Rica Itxaso

The congenital central hypothyroidism (CCH) incidence is estimated at 1:18,000-30,000 neonates and most are included in multiple pituitary deficiencies (MPD). Clinical depend on the etiology, the deficit severity; other associated hormonal alterations and the age of diagnosis. Neonatal screening (NS) for congenital hypothyroidism that includes T4 facilitate its diagnosis.Objetives: •To evaluate the characteristics of patients with C...

hrp0089p1-p077 | Diabetes & Insulin P1 | ESPE2018

Additional Insulin is Necessary to Prevent Rise in Blood Glucose after Fat-protein-rich Meals in Type 1 Diabetes

Schweizer Roland , Herrlich Susann , Losch-Binder Martina , Glokler Michaela , Heimgartner Magdalena , Liebrich Franziska , Meszner Katja , Muckenhaupt Tina , Schneider Angelika , Ziegler Julian , Neu Andreas

Background: High amounts of protein in meals increase blood glucose in patients with type 1 diabetes. Fat delays the increase of blood glucose. Till now we do not know the amount of insulin necessary to prevent the increase of blood glucose after a fat and protein rich meal (FPRM).Aim: To find the Insulin dosage to normalize glucose level after a FPRM.Patients: Sixteen patients with type 1 diabetes (mean±SD; Age 19.7±2.7 ...

hrp0086p1-p16 | Adrenal P1 | ESPE2016

Cortisol Response to ACTH Stimulation Test in Non-Classical Congenital Adrenal Hyperplasia

Karachaliou Feneli , Kafetzi Maria , Vlachopapadopoulou Elpis , Leka-Emiris Sophia , Drakopoulou Maria , Kapella Antonia , Fotinou Aspasia , Michalakos Stefanos

Background: The adequacy of cortisol response in NCCAH has not been fully elucidated.Objective and hypotheses: To evaluate cortisol response to ACTH stimulation test in children and adolescents with NCCAH and possible heterozygosity for CYP21 gene molecular defects.Method: Data of ACTH stimulation test from 146 children and adolescents with clinical hyperandogenism were evaluated retrospectively. Cortisol responses to ACTH stimulat...

hrp0082p1-d3-228 | Reproduction (2) | ESPE2014

Impact of Bisphenol-A on the Puberty of Female Rats

Linqi Chen

Background: It is now widely accepted that chemical pollutants in the environment can interfere with the endocrine system. The impact of endocrine disrupting chemicals on puberty disorders is concerned. bisphenol-A (BPA) has been measured in fetal plasma. There are different toxic effects with different doses of BPA.Objective and hypotheses: To observe vaginal opening day (VOD), hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression...

hrp0082p3-d3-946 | Puberty and Neuroendocrinology (1) | ESPE2014

Impact of Bisphenol-A on the Puberty of Female Rats

Linqi Chen , Fan Yang , Meifang Jin , Haiying Wu

Background: It is now widely accepted that chemical pollutants in the environment can interfere with the endocrine system. The impact of endocrine disrupting chemicals on puberty disorders is concerned. bisphenol-A (BPA) has been measured in fetal plasma. There are different toxic effects with different doses of BPA.Objective and hypotheses: To observe vaginal opening day (VOD) hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression ...

hrp0084p3-597 | Adrenals | ESPE2015

Generalised Glucocorticoid Resistance in an Adolescent Girl with Severe Hyperandrogenia without Mutations in NR3C1 Gene

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria

Background: Generalised glucocorticoid resistance (Chrousos syndrome) is a rare inherited disease characterized by tissue insensitivity to glucocorticoids and associated with defects in human glucocorticoid receptor (hGR) gene (NR3C1, 138040). Despite of elevated serum and urine cortisol the patients do not develop clinical picture of Cushing syndrome but present with hyperandrogenia and hypertension.Case presentation: We present a case in which clinical...

hrp0097p2-3 | Adrenals and HPA Axis | ESPE2023

Glucocorticoid induced adrenal insufficiency evaluated by the low dose short corticotropin test in children

Nauwynck Elise , Knauf Keanu , Anckaert Ellen , Vanbesien Jesse , Staels Willem , De Schepper Jean , Gies Inge

Background and aims: The low dose short corticotropin test (LCT) is the most frequently used test to diagnose glucocorticoid-induced adrenal insufficiency (GAI) in children. Result of the LCT must be interpreted with caution since stimulated peak cortisol (PC) thresholds depend on the assay and time of sampling. We evaluated the prevalence of GAI by the LCT using both 20 and 30 minutes sampling and cortisol measurements by the most recent Roche Elecsys Cortiso...

hrp0095p1-301 | GH and IGFs | ESPE2022

High prevalence of refractoriness in children tested for growth hormone deficiency with nocturnal spontaneous profile and subsequent arginine-insulin-tolerance test

Borghammar Camilla , Boije Victoria , Lindberg Bengt , Elfving Maria

Introduction: Diagnosing growth hormone deficiency (GHD) in children is complex. Spontaneous growth hormone (GH) pulses during late night may influence the pituitary GH response to provocation tests. We evaluated refractoriness during arginine-insulin-tolerance test (AITT) when having a GH-peak during a short spontaneous nocturnal profile in children with short stature.Methods: Altogether 257 children 0-18 years were exa...

hrp0095p2-44 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

The changes of body composition in children with obesity

Waaks-Stępień Bogdan , Mikhno Hanna , Malastseva Lizaveta

Background: in our days the case of reduction of bone mineral density becomes more common. This pathology can be detected in children and adolescents with obesity with the help of densitometry.Aim: to reveal the dynamics of body composition indicators in obese children.Methods: we examined 32 children with obesity in the University Hospital (Minsk) in 2020-2022 yrs. Their anthropom...