ESPE Abstracts

Central diabetes insipidus (CDI) at neonatal age may occur in the setting of intracranial abnormalities that affect the hypothalamus-pituitary system. These conditions are characterized by defective production, transport or secretion of antidiuretic hormone (ADH). This results in inappropriately low ADH levels in the setting of increased plasma osmolality. We present the case of an infant born by C-section at 38 weeks of gestation, with bilateral cheilognatopalatoschisis, naso...

We describe a 5 years-old patient referred to our centre for dysmorphic features and delayed psychomotor development. Negative family history, second child, full-term birth, eutocic delivery, regular growth parameters at birth and neonatal adaptation. Autonomous walking at 20 months with clumsiness; first words at 2 years with dysarthria and dysphagia. Brain MRI and array-CGH were normal. At the neurological examination: perioral hypotonia, sialorrhea, praxic difficulties. At ...

Hyperinsulinemic hypoglycemia (HH) is common in newborns. If hypoglycemia occurs after the first 48 hours following birth, it may be a sign of an underlying condition. We present the case of a baby girl born at 38 weeks of pregnancy, with good adaptation to extrauterine life and blood glucose of 60 mg/dl in the first days of birth. Approximately 2 days after discharge, she was addressed at the emergency unit because of food refusal for approximately 30 hours, with a blood suga...

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

Introduction: Transgender people and the gender transition process requires a series of processes with psychosocial, legal and physical implications. In our community, with the establishment of the care plan for trans youth, reference units were created in 2015. We had an interest to analyze the different epidemiological variables and the type of care demand of this population cared for in our unit.Methodology: An observ...

Introduction: CHARGE syndrome is a rare constellation of congenital malformations caused by mutations in CHD7 gene. The acronym stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or hearing loss. Endocrine disorders associated with this syndrome include hypogonadotropic hypogonadism, ...

Introduction: Adamantinomatous craniopharyngioma (aPCs) are complex intracranial neoplasms that arise in the sellar or parasellar region affecting the endocrine system, leading to severe comorbidities. Activating mutations resulting in degradation resistant b-Catenin have been shown to be the main driver for a large proportion of these neoplasms. However, the underlying genetic driver for a number of these tumours remains unknown. Here, using murine transgenic...

Background: Hypophosphatemic rickets (HR) associated with elevated FGF23 plasma levels is a disorder characterized by renal phosphate wasting, leading to impaired bone mineralization. Conventional therapy, based on oral phosphate and calcitriol, has limited efficacy and tolerability. In 2018, burosumab, a monoclonal antibody against fibroblast growth factor 23 (FGF-23), was approved for the treatment of X-linked hypophosphatemia (XLH). However, data on burosum...

Introduction: Central nervous system tumours are the second most commonly encountered malignancy in children with 35 cases/million/year (1). However, only 10% affect the suprasellar/intrasellar region, which limits experience of such cases in any one centre. Multidisciplinary team meetings (MDT) are a well-recognised approach to obtain expertise beyond a single clinical site. Such meetings are often used to support diagnosis, investigation and management resul...

Introduction: Many HCL-algorithms are available in pediatrics but real-life comparison studies are limited.Objective: Analyze and compare metabolic control indicators achieved with the two HCLS used in our hospital in Children-with-T1D (CwD).Methods: Retrospective descriptive study of CwD on HCLS treatment (Tandem with Control-IQ, Medtronic MiniMed780G). Data collection through cli...