hrp0084p2-434 | Gonads | ESPE2015

Confirmation of Exogenous Serum Estrogenic Activity in a Girl with Premature Thelarche

Francoise Paris , Marina Grimaldi , Charles Sultan , Patrick Balaguer

Background: The oestrogenic activity of endocrine-disrupting compounds (EDCs) has been reported to be associated with premature thelarche (PT) and precocious puberty. Some years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA) that is useful in physiology, as well as in the field of the environmental-related endocrine diseases. We recently improved the assay with an evaluation of EBA before and after incubation with estrogen recepto...

hrp0084p3-995 | Gonads | ESPE2015

Puberty and Gonadal Function in Adolescents Girls after Renal Transplantation

Hecquet Blandine , Charbit Marina , Polak Michel , Bidet Maud

Background: Renal transplantation (RTx) is the most common solid organ transplant procedure. Several studies have reported on puberty and gonadal function in female RTx recipients with controversial results.Objective: We sought to describe puberty and gonadal function in adolescents after RTx before 16 years.Methods: We reported retrospectively the clinical signs of puberty, growth, medication and graft function of 20 girls aged 19...

hrp0084p3-1169 | Thyroid | ESPE2015

Large Goitre in a Patient with Congenital Hypothyroidism

Bolmasova Anna , Melikyan Maria , Narogan Marina , Podurovskaya Yulia

Background: Congenital goitre presenting in the newborn period is very rare. Here we present a case of congenital hypothyroidism with a large goitre, leading to trachea compression symptoms. Hormone replacement therapy was started leading to normal levels of TSH, FT4, and thyroid volume. In face of maternal normal thyroid levels, dyshormonogenesis considered to be the most probable cause of hypothyroidism.Case presentation: A male full term ne...

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 ...

hrp0092p3-231 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Falsely Elevated Serum Sex Steroid Hormones in a Girl with Premature Adrenarche

Sabolić Lavinia La Grasta , Požgaj Šepec Marija , Zec Ivana , Mandić Dario , Stipančić Gordana

Background: Laboratory evaluation is crucial for accurate assessment of patients with endocrine disorders. When clinical picture is in obvious contradiction with laboratory results, one should suspect and prove analytical interference.Case presentation: a 6.7-year-old girl presented with sexual and axillary hair accompanied by adult-type body odor. She was tall (height SDS 2.6), with no other signs of virilisation and no...

hrp0097p1-9 | Adrenals and HPA Axis | ESPE2023

The @MATES4Kids Movement: Reducing Preventable Mortality Associated with Congenital Adrenal Hyperplasia (CAH) by 30% by 2030

Armstrong Kate , Auste Carmen , Calzada León Raúl , Chanoine Jean-Pierre , L. Claahsen Hedi , E. Craig Maria , Deeb Asma , Yazid Jalaludin Muhammad , Matos Dina , Mayrdorfer-Muhr Marika , Meschede Johanna , Pulungan Aman , N. Seneviratne Sumudu , E.J. Stafford Diane , Duran Ventura Paola , K. Boddu Sirisha , Atapattu Navoda , Raza Jamal , Ibrahim Mohsina , Musa Salwa

Background: Children living with paediatric endocrine conditions in resource-poor countries experience inequitable rates of preventable mortality and morbidity. Reducing preventable mortality will help member states committed to delivering on the United Nations’ Sustainable Development Goals 3.2.1, 3.2.2 and 3.4. CLAN (Caring & Living As Neighbours) has been improving health outcomes for children living with CAH in resource poor countries since 2004,...

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...