hrp0082p2-d3-503 | Perinatal and Neonatal Endocrinology | ESPE2014

Survey of Opinion on the Antenatal and Surgical Management of Disorders of Sex Development and Congenital Adrenal Hyperplasia

White Mary , Hewitt Jacqueline

Background: Congenital adrenal hyperplasia (CAH) is characterised by elevated adrenal androgens which can lead to virilisation of affected females.Objective and hypotheses: To outline clinical opinion on two controversial aspects of CAH management (antenatal dexamethasone and genital surgery of affected females) which was hypothesised would differ between regional centres.Methods: A survey was conducted via the Aus...

hrp0082p3-d2-645 | Adrenals & HP Axis (1) | ESPE2014

Untreated Congenital Hyperplasia with Central Precocious Puberty

Dimitrova Mihaela , Stefanova Elisaveta , Kazakova Krasimira , Yordanova Desislava , Todorova Zdravka

Background: Congenital adrenal hyperplasia (CAH) may cause early maturation of hypothalamic–pituitary–gonadal axis when the initiation of corticosteroid treatment is late or/and there is poor compliance. The latter sometimes leads to a lack of treatment. In most cases, if the child survives, he or she develops central precocious puberty.Case report: We present a 12-year-old boy born of a normal pregnancy and delivery. In the first months of lif...

hrp0094p1-8 | Adrenal A | ESPE2021

Long-term Cardiometabolic Morbidity In Young Adults With Classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Righi Beatrice , Ali Salma R , Bryce Jillian , Tomlinson Jeremy W , Bonfig Walter , Baronio Federico , Costa Eduardo C , Filho Guilherme Guaragna , T’Sjoen Guy , Cools Martine , Markosyan Renata , Bachega Tania A S S , Miranda Mirela C , Iotova Violeta , Falhammar Henrik , Ceccato Filippo , Stancampiano Marianna R , Russo Gianni , Vukovic Rade , Giordano Roberta , Mazen Inas , Guven Ayla , Darendeliler Feyza , Poyrazoglu Cukran , Vries Liat de , Ellaithi Mona , Daniel Eleni , Johnston Colin , Hunter Steven J , Carroll Paul V , Adam Safwaan , Perry Colin G , Kearney Tara , Abraham Prakash , Rees D Aled , Leese Graham P , Reisch Nicole , Stikkelbroeck Nike M M L , Auchus Richard J , Ross Richard J , Ahmed S Faisal ,

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hyd...

hrp0092p1-333 | Diabetes and Insulin (2) | ESPE2019

Abdominal Fat Distribution Assessed by Abdominal CT Scan in Adolescents with Type 2 Diabetes Mellitus

Abe Yuriko , Urakami Tatsuhiko , Hara Mitsuhiko , Yoshida Kei , Mine Yusuke , Aoki Masako , Suzuki Junichi , Saito Emiko , Iwata Fujihiko , Okada Tomoo , Morioka Ichiro

Background: Abdominal fat distributions are reportedly strongly associated with metabolic risks in type 2 diabetes mellitus. However, research on fat distribution in adolescents with type 2 diabetes mellitus has been limited.Aim: To investigate fat distribution characteristics in adolescents with type 2 diabetes mellitus for comparison to those with simple obesity in Japan.Design/Methods</s...

hrp0089s6.3 | Molecular Mechanisms of Tissue Sensitivity to Glucocorticoids: Potential Clinical Implications | ESPE2018

Chemical Modification of the Glucocorticoid Receptor as a Determinant of Tissue Glucocorticoid Sensitivity: Implications to Circadian Rhythms, Stress Response and Treatment of Pediatric Leukemia

Kino Tomoshige

Glucocorticoid hormones virtually influence all human functions both in a basal homeostatic condition and under stress. Thus, many other biological pathways adjust glucocorticoid actions in local tissues (tissue glucocorticoid sensitivity) by targeting the single receptor molecule glucocorticoid receptor (GR) as part of the regulatory loop coordinating complex human functions. Among them, chemical modification of GR, such as by acetylation and phosphorylation, is highlighted a...

hrp0089p3-p016 | Adrenals and HPA Axis P3 | ESPE2018

Adrenals and HPA Axisa; Atypical Presentation of Adrenal Insufficiency

Khan Khalid

Case report: Atypical presentation of adrenal insufficiency: 13 year old presented with vomiting (one day), lethargy two weeks. mild dehydration, vitals stable, generally healthy, examination unremarkable, medication nill, history of insect bite two weeks ago, no allergies, started on I. V maintenance fluids, investigations (blood) normal, the only abnormal was low soduim, normal glucose and potassium, soduim was 122 mol/l, repeated soduim was 119 after the maintain ace 0.9% n...

hrp0089p3-p373 | Thyroid P3 | ESPE2018

Hypovitaminosis D and Chronic Autoimmune Thyroiditis Mammary Echostructural Involvements in Puberty

Ibadula Seila , Circo Eduard

Introduction: Benign breast pathology has a frequent onset during puberty-adolescence.Objectives: Differential evaluation of breast echostructure in puberty stage III/V, on Tanner scale, depending on the presence of thyroid autoimmunity and hypovitaminosis D.Method: Assessment of BIRADS score from 2 to 4 in three groups of girls associating premenstrual mastodynia: Group 1 - including patients with chronic autoimmune thyroiditis an...

hrp0084wg3.3 | DSD | ESPE2015

European Reference Network: Accomplishments of the COST Action DSDnet

Hiort Olaf

Background: The European Programme on Cooperation of Science and Technology (COST) funds the formation of networking activities with Horizon 2020. In November 2013, the COST Action DSDnet was started and currently 22 European countries as well as six additional partner countries participate. The EU plans to instal European Reference Networks (ERN) by 2016 for defined rare conditions.Objective and hypotheses: DSDnet encompasses five working groups (WGs) w...

hrp0092p2-254 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Paediatric Health Assistance to Transsexual Minor in the Multidisciplinary Care Unit of the Basque Country (Spain)

Rica Itxaso , Grau Gema , Vela Amaia , Rodríguez Amaia , Guadilla M. Luisa

In 2009, the National Health Service of the Basque Country created a Gender Identity Reference Unit (GIU-BC) to cover the health needs of the transsexual population with a multidisciplinary assessment: Psychiatry, psychology, endocrinology, plastic and reconstructive surgery. Pediatric endocrinologists and pediatric psychiatry were included in 2013.Aim: To know the activity of Pediatric Endocrinology in the GIU-BC since 2013.<p class...

hrp0089fc7.3 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Diazoxide-Induced Pulmonary Hypertension: UK Multicentre Retrospective Study on the Risk Factors, Monitoring Approach and Management Recommendations

Chen Suet Ching , Dastamani Antonia , Pintus Donatella , Yau Daphne , Aftab Sommayya , Bath Louise , Swinburne Craig , Hunter Lindsey , Giardini Alessandro , Christov Georgi , Senniappan Senthil , Banerjee Indraneel , Shaikh Guftar , Shah Pratik

Objectives: Diazoxide is first line treatment for hypoglycaemia due to hyperinsulinaemic hypoglycaemia (HH). However, the FDA has raised serious concerns regarding diazoxide-induced pulmonary hypertension (PH) in 2015. Although sporadic cases of PH have been reported, no HH cohort has been systematically characterised to understand severity and risk factors for diazoxide-induced PH.Methods: To investigate the onset, progress and associated factors in PH,...