ESPE Abstracts

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause of CAH, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1gene encoding for the enzyme 11β-hydroxylase (11βOH).Case presentation: A thirteen-year-old g...

Introduction: CAH-X syndrome refers to a subset of Congenital adrenal hyperplasia (CAH) patients who display the hypermobility phenotype of Ehlers–Danlos syndrome (hEDS) due to the monoallelic/biallelic presence of a CYP21A2 deletion extending into the TNXB gene (chimeric TNXA/TNXB gene). To date, three different TNXA/TNXB chimeras have been described, CH-1 (presence of a TNXA-derived 120bp deletion in exon 35 of the <...

Background: The nonclassic congenital adrenal hyperplasia (CAH) is often presented as isolated premature pubarche in childhood. Definitive diagnosis is genetic.Objective and hypotheses: To describe patients diagnosed in our hospital, clinical signs and laboratory results that lead to genetic study. To analyze adult height.Method: Descriptive retrospective study of our population with genetic confirmation.Resu...

Background: Lipodystrophies are a group of rare disorders characterized by varying degrees of body fat loss. The metabolic abnormalities associated with lipodystrophy include insulin resistance, often leading to diabetes mellitus, hypertriglyceridemia that may be severe enough to cause acute pancreatitis and hepatic steatosis that may lead to cirrhosis.They can be either genetic or acquired, generalized or partial. Acquired generalized l...

Introduction: Systemic Juvenile Idiopathic Arthritis (sJIA) is an autoinflammatory disease, characterized by the association of arthritis with fever, often accompanied by rash, generalized lymphadenopathy, hepatosplenomegaly, and serositis. The diagnosis requires adequate exclusion of infectious, autoimmune, autoinflammatory, and oncologic diseases. These patients need to be treated with glucocorticoids plus biologic drugs, anti-IL-1 or anti-IL-6 monoclonal an...

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

Introduction: HbA1C goals are rarely achieved in children with Type 1 diabetes (T1D) except at the cost of increased hypoglycaemia episodes. The Diabeloop Hybrid Closed-Loop system improves time in range and glycemic control in adults. However, the efficacy and safety of the system had not yet been evaluated in children. Our objective was to evaluate the safety and efficiency of the Diabeloop hybrid closed-loop system in prepubescent children (DBL4K).<p cl...

Background: A high frequency of extrathyroidal congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. Current ESPE guidelines suggest that congenital malformations, underlying dysmorphic syndromes and psychomotor and language development should be sought for and monitored in CH patients. The identification of co-existing nosologies and malformations is helpful not only for clinical purposes but also for uncovering ...

SARS-CoV- 2 pandemic induced to develop new strategies to abate the distance between patients, families and paediatricians, especially in cases of patients who need long-term therapies. Furthermore, the need to minimize the inflow of children and adolescents affected by chronic diseases into the hospitals induced paediatric endocrinologists to limit visits and to consider a new setting to assist children in treatment with growth hormone (GH). Telemedicine and smart-working cou...

Introduction: Paediatric intracranial germ cell tumours (IC-GCTs) are often accompanied by precocious or delayed puberty, either at diagnosis caused by tumour itself or during follow-up as consequence of treatments.Aims: We examined the prevalence of pubertal dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow-up.Methods: We recorded clinical...