hrp0084p1-133 | Turner & Puberty | ESPE2015

Improved Determination of Total Serum Estrogenic Bioactivity: Characterisation of Oestrogenic Activity Modulators

Francoise Paris , Marina Grimaldi , Charles Sultan , Patrick Balaguer

Background: Several years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA). In addition to its physiological interest, EBA could be a good marker of endocrine-disrupting compounds (EDCs) with estrogenic activity and thus would be useful in the field of environmental-related endocrine diseases.Aims and objectives: To characterise the type of substances that mediate estrogenic activity.Met...

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...

hrp0089p1-p061 | Diabetes & Insulin P1 | ESPE2018

The Prevalence of Autonomic and Peripheral Neuropathy in Children and Adolescents with Type 1 Diabetic Mellitus (T1D) and Its Association with the Homozygous Status of Z-2/Z-2 Polymorphism of the Aldose Reductase Gene (AKR1B1) in the Polyol Pathway

Kallinikou Dimitra , Tsentidis Charalampos , Kekou Kyriaki , Louraki Maria , Kanaka-Gantenbein Christina , Kanavakis Emmanouil , Karavanaki Kyriaki

Introduction: Diabetic neuropathy (DN) significantly reduces patientsÂ’ quality of life and increases cardiovascular death risk. However, it is the least recognized complication of diabetes. Z-2/Z-2 polymorphism of the aldose reductase (AKP1B1) gene increases the expression of the relative enzyme and is likely to contribute to DN expression.Purpose: To study the prevalence of DN in T1D children and adolescents and its associations with the h...

hrp0086p1-p202 | Diabetes P1 | ESPE2016

Screening for Autonomic Neuropathy in Children and Adolescents with Type 1 Diabetes Mellitus

Kallinikou Dimitra , Tsentidis Charalampos , Louraki Maria , Papathanasiou Asteroula , Kanaka-Gantenbein Christina , Karavanaki Kyriaki

Background: Diabetic neuropathy is among the least recognized complications of diabetes, despite its significant negative impact on survival and quality of life. Characteristic neuronal alterations may occur subclinically early in the course of the disease, even in childhood. The prevalence of subclinical neuropathy in paediatric population ranges from 7.9 – 19% in different studies.Objective and hypotheses: Our objective was to study the prevalence...