ESPE Abstracts

Background: In newborns, physiological transition of glucose metabolism is typically completed within 48–72 h of life, yet prolonged hyperinsulinemic hypoglycemia (HH) beyond 5d of life is not uncommonly encountered, especially in infants at-risk of hypoglycemia. Management includes intravenous dextrose while awaiting spontaneous resolution (SR) of HH or Diazoxide (DZX) therapy. Since DZX acts by suppressing insulin release, concerns arise whether weight gain in infancy w...

Background: Congenital isolated GH deficiency (cIGHD) is a rare genetic disease occurring mostly in consanguineous families. It is caused by hGH-1 gene deletion or GHRH – receptor mutations.Aim of study: To collect retrospectively size at birth, developmental mile stones, linear and head growth and pubertal development before and during hGH treatment.Subjects: The medical charts of 37/41 patients with cIGHD (21 m, 16 f) contai...

Primary Xanthomatous Hypophysitis (XH) is the rarest histological subtype of hypophysitis. Here we describe the case of a young 9-year-old girl diagnosed with this condition. The patient presented with a four-month history of an intermittent temporal-frontal headache that became gradually worse and constant for three days prior to admission. She did not have clinical signs or symptoms suggestive of increased intracranial pressure but had mild ataxia. On admission she was febri...

Introduction: The incidence of type 1 and type 2 diabetes mellitus in children and adolescent has been on the rise for the last decades. While the reasons behind these are not known, one possible explanation for the emergence of type 2 diabetes in children is the increase of obesity and decreasing physical activity. Adolescents are at the cross roads between childhood and adulthood and that makes classification of their diabetes mellitus at presentation a diagnostic challenge....

Background: Neonatal hyperthyroidism is almost always transient and related to the passage of maternal thyroid stimulating immunoglobulins (TSI). Positive TSI levels in a neonate is often diagnostic of neonatal Graves disease. The manifestation of symptoms has not been well characterized in premature infants.Clinical Case: A female infant was delivered at 27×4/7 weeks gestational age, with a birth weight of 827 g. Her mother was diagnosed with Grave...

Background: Diabetes mellitus is not characteristic of Beckwith Wiedeman Syndrome (BWS). If anything, BWS is associated with hypoglycaemia secondary to hyperinsulinaemia. A case of permanent neonatal diabetes mellitus and BWS have never been reported from our setting.Objective and hypotheses: To report on a 17 years old boy with BWS diagnosed with permanent neonatal diabetes mellitus at 4 months of age and to determine the molecular genetics study which ...

Background: Sickle cell anemia (SCA) leads to chronic end organ damage including the thyroid gland. This is postulated to be due to recurrent hemolysis leading to iron overload, vaso-occlusive crises, micro-vasculature obstruction due to red cell entrapment and frequent transfusions. Some studies have demonstrated a relationship between hypothyroidism and SCA with a prevalence of 6% in children and adolescents. Hypothyroidism may affect brain and physical deve...

Background and aim: Pregnancy with diabetes mellitus is associated with obstetric and neonatal complications, including the development of fetal macrosomia. Fetal macrosomia of diabetic origin is characterized by a disproportionate distribution of subcutaneous fat with predominant localization in the upper half of the fetus body. The cause of excess fetal growth is maternal hyperglycemia, regardless of the type of diabetes in the mother. The aim of study was t...

Background: PCC and PGL are rare in CYP. National children’s registry data reveal an annual incidence of 0.2 and 0.3 per million in 5–9 and 10–14 year age groups respectively. Almost all result from a genetic predisposition, can present with non-specific symptoms, and represent a significant management challenge.Aims: We aimed to provide the first interdisciplinary national management guidelines using the AGREEII framework for CYP with con...

Papillary thyroid cancer (PTC) is the most common thyroid tumor in childhood and adolescence. Most of these patients are referred with locally advanced and/or distant disease at the moment of diagnosis. Whenever is possible, these patients should be offered a total thyroidectomy and radioiodine remnant ablation. However, this approach is not always possible to perform, becoming these tumors as unresectable. These critical cases could benefit from the neoadjuvant treatment with...