ESPE Abstracts

Background: ACH, the most common short-limbed skeletal dysplasia, is characterized by defective endochondral ossification resulting from gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone formation. Current treatment options are non-targeted, ineffective, or painful interventions aimed at preventing or treating complications. Infigratinib is an orally bioavailable and selective...

Introduction: Bardet-Biedl syndrome is a rare autosomal recessive disease, characterized by rod-cone dystrophy, truncal obesity, left foot polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, female genitourinary malformations, and renal abnormalities. The authors present 3 cases of Bardet-Biedl syndrome diagnosed during pediatric age.Case description: Case1: A 3-year-old girl with a f...

Introduction: Growth hormone deficiency (GHD) is the most frequent endocrine deficit in childhood survivors of brain tumours. However, there is insufficient evidence to guide the timing of growth hormone replacement (GHR). At Great Ormond Street Hospital timing is based on clinical need rather than in relation to oncological treatment. Therefore, sufficient variability in GHR timing is available to analyze its effect on tumour progression and recurrence.<p...

Background: Diabetics have an increased risk of cardiovascular disease. In young adults with type 1 diabetes mellitus (T1DM), cardiovascular events are more often the cause of premature death than nephropathy. In pediatric T1DM population, 35% have 2 or more cardiovascular risk factors (cvRF).Objective and hypotheses: This study aimed to determine the prevalence of traditional cvRF in children and adolescents with T1DM, and their association with the deg...

Background: Type 1 diabetes is one of the most common chronic disease in pediatric age. The incidence is increasing worldwide, with significant variations between countries. In Portugal, the prevalence in pediatric age is about 0.16%.Objective and hypotheses: This study aims to characterize a pediatric population with type 1 diabetes and to identify factors influencing the metabolic control.Method: Retrospective analysis of childre...

Introduction: Leydig cell tumors are rare (3% of testicular neoplasms). 80% of cases occurs in adult population, although a quarter is described in prepubertal patients older than four years. The clinic differs according to the patient's age. Activating mutations, acquired and limited to the tumor tissue, are described in exon 11 of the LH receptor gene. And in mixed Sertoli-Leydig tumors activating mutations of the Gs-alpha subunit of the stimulat...

Puberty is a crucial biological process normally occurring at a specific time during the lifespan, during which sexual and somatic maturation are completed, and reproductive capacity is reached. Pubertal timing is not only determined by genetics, but also by endogenous and environmental cues, including nutritional and metabolic signals. During the last decade, we have learned much regarding the essential roles of kisspeptins and the neuropeptide pathways that converge on these...

Background: Several studies have suggested that vitamin D supplementation in early childhood is successful in decreasing the risk of type 1 diabetes (T1D) through a complex immunomodulatory role. However, Intervening in disease once clinical symptoms have appeared and autoreactive immune responses are active might be more challenging. Controlled trials with vitamin D supplementation in recent-onset T1D have shown mixed results.Objective and hypotheses: T...

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, a typical phenotype and feeding difficulties. It is related to 11p15 ICR1 hypomethylation in up to 50% of the cases. Some patients may exhibit signs of early puberty or premature adrenarche, including premature pubarche and/or an exaggerated adrenarche (high dehidroepyandrosterone sulfate (DHEAS) levels for chronological age). Despite early feeding difficulties, some ch...

Background: Hashimoto’s thyroiditis is a common autoimmune disease in pubertal and adolescent girls. In the past years the incidence of this autoimmune disease of the thyroid gland has increased.Objective and hypotheses: We present a 12.5 year old girl who had her first visit at our Pediatric Endocrinology Department at the age of 10 years due to short stature and clinical signs of hypothyroidism. Her height was – 3SD SDS and her BMI was 12.7. ...