hrp0084p3-1211 | Thyroid | ESPE2015

Rectal Diluted Levothyroxine for the Treatment of Neonatal Hypothyroidism: An Alternative Route of Administration

Ybarra Marina , Pinheiro Claudia , Setian Nuvarte , Damiani Durval , Dichtcekennian Vae

Background: Most individuals with neonatal hypothyroidism present clinically asymptomatic or with few symptoms. Early treatment with oral levothyroxine prevents complications related to this disorder. We report a case of a male infant with Short Bowel syndrome (SBS) and congenital hypothyroidism (CH) treated with rectal levothyroxine.Case and presentations: A male patient with previous gastroschisis underwent multiple surgical approaches for small bowel ...

hrp0097p2-63 | Diabetes and Insulin | ESPE2023

The importance of genetic testing and the appropriate use of glibenclamide in neonatal diabetes

Tumasyan Dalar , Bayburdyan Gayane , Hovakimyan Marina , Arakelyan Lusine , Aghajanova Elena

Introduction: Neonatal diabetes is a rare condition that can present in the first months of life. Neonatal diabetes has more than 20 genetic origins that are currently known. About 40% of these patients carry mutations in KCNJ11 and ABCC8 genes, which impair the pancreatic beta-cell K-ATP channels and can be treated with oral sulfonylureas. The purpose of this case report is to present a patient diagnosed with neonatal diabetes and the subsequent management of...

hrp0097p1-465 | Fat, Metabolism and Obesity | ESPE2023

When a pandemic hits another pandemic: the rising overweight and obesity in children in North Macedonia

Arjeta Raufi , Maneva Konstandina Kuzevska , Konstantinova Marina Krstevska , Naser Durmishi

Key Words: Childhood obesity, Prevalence, Covid-19, N. Macedonia Abstract Childhood obesity is a growing concern and a worldwide pandemic. North Macedonia, a small middle-income country with a population of around 2 million, is among the top 10 countries in Europe with a high prevalence of overweight and obesity.  The aim of this study is to observe how the COVID-19 pandemic ...

hrp0089fc10.6 | Late Breaking | ESPE2018

Primary Ovarian Insufficiency Incidence Rate and ETIOLOGY AMONG ISRAELI ADOLESCENTS between the Years 2000–2016 – A Multi-Center Study

Gruber Noah , Kugler Shir , de Vries Liat , Brener Avivit , Zung Amnon , Eyal Ori , Rachmiel Marianna , Koren Ilana , Tenenbaum-Rakover Yardena , Hershkovitz Eli , Landau Zohar , Oren Meirav , Eliakim Alon , Zangen David , German Alina , Majdoub Hussein , Mazor-Aronovitch Kineret , Modan-Moses Dalit , Yeshayahu Yonatan , Naugolni Larisa , Levy-Shraga Yael , Ben-Ami Michal , Brill Gherta , Levy-Khademi Floris , Avnon-Ziv Carmit , Tiosano Dov , Harel Shira , Kedem Einat , Segev-Becker Anat , Shoenfeld Yehuda , Pinhas-Hamiel Orit

Introduction: Primary ovarian Insufficiency (POI) occurring in youth is a devastating condition. POI is characterized by at least 4 months of disordered menses in association with menopausal follicle stimulating hormone (FSH) levels. The most common causes of POI in adolescence are iatrogenic and chromosomal abnormalities. Data are scarce regarding the incidence of POI in adolescents.Objectives: We aimed to estimate the incidence and the distribution of ...

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...

hrp0095p1-166 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Metabolic setup in infants with panhypopituitarism

Sukarova-Angelovska Elena , Krstevska-Konstantinova Marina , Alulovska Natasa , Doksimovski Filip , Teov Bojan

Congenital panhypopituitarism is a rare cause of impaired metabolism in early infancy. Many guidelines for neonatal hypoglycemia include evaluation of pituitary hormones, but other parameters of metabolism (either mineral, lipid or hepatic) are rarely taken into consideration and don’t regularly suggest hormonal investigation. Therefore the diagnosis of multiple hormonal deficiencies is often late at that age. Although many reports point to the impaired bile discharge, a...

hrp0095p1-364 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pneumonia as the first manifestation of pediatric pulmonary carcinoid tumor

Oprescu Raluca , Cima Luminita , Zubaci Ana , Tarna Mihaela , Iliescu Marina , Fica Simona

Pulmonary carcinoid tumors represent well-differentiated pulmonary neuroendocrine tumors, which include typical and atypical carcinoids. This type of lung tumors is rare, but represents the most common primary malignant lung tumor in children and adolescents, especially the typical carcinoids. They can be asymptomatic at the time of diagnosis or can present with nonspecific findings like recurrent pneumonia, cough, and hemoptysis. We report the case of a 15-year-old girl reffe...

hrp0092fc11.4 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Whole Exome Sequencing in a Familial Case of Adamantinomatous Craniopharyngioma Revealed Two Hits Affecting Wnt-Signaling Pathway

Gorelyshev Alexander , Mazerkina Nadezhda , Vasilyev Evgeny , Petrov Vasily , Ryzhova Marina , Gorelyshev Sergey , Tiulpakov Anatoly

Background: Craniopharyngiomas (CPs) are benign brain tumours that intimately involve pituitary and, often, hypothalamus. Here, primary clinical conundrum is choosing between gross total resection and preserving endocrine functions. Robust predictors of recurrence are much needed, but require a deeper understanding of the molecular basis of CPs. Multiple studies show that CTNNB1 (β-catenin) somatic mutations drive the adamantinomatous subtype ...

hrp0092p1-74 | GH and IGFs | ESPE2019

Recombinant GH Treatment in Child with Pseudopseudohypoparathyroidism Associated with Growth Hormone Deficiency

Karachaliou Feneli , Skarakia Nikitas , Mitrogiorgou Marina , Simatou Aristophania , Peppa Melpomeni , Papaevangelou Vassiliki

Background: Pseudopseudohypoparathyroidism (PPHP) is a rare variant of pseudohypoparathyroidism (PHP) type I, with typical anatomical abnormalities known as Albright's hereditary osteodystrophy (AHO)(short stature, brachydactyly particularly involving metacarpals and metatarsals, round face, stocky build, ectopic ossifications and a number of possible associated defects), but with normal calcium, phosphate and PTH levels and normal response to exogenous PT...