ESPE Abstracts

Introduction: Coffin-Siris Syndrome (CSS) is a rare multisystem genetic disorder which arises from genetic abnormalities within genes encoding for the SWI/SNF complex (ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCA2, SMARCE1). Endocrinopathies have been associated with CSS, including idiopathic short stature, hyperinsulinism, obesity, growth hormone deficiency, and cryptorchidism. Here, we describe the endocrine features of a series of children with S...

Introduction: Diagnosis of growth hormone deficiency (GHD) and idiopathic short stature (ISS) is not straightforward. Nowadays growth hormone (GH) stimulation tests play a key role in the diagnosis but they are controversial due to the lack of normative data, poor reproducibility and poor disease concordance.The magnetic resonance imaging (MRI) is also a tool in the study of patients with short stature. Structural alterations of the hypo...

Background: The aim of our study is to determine the relation of vitamin D levels (25(OH)VD) with body-mass index (BMI), age and month of extraction in pediatric patients.Materials and Methods: We present a retrospective review of medical records of patients under 18 years of age visited by the Children's Endocrinology Service (overweight and obesity) and ambulatory pediatrics (healthy and normal weight children) at ...

Objective: To describe efficacy and security of treatment protocol with gonadotropins in adolescents with hypogonadotropic hypogonadism (HH).Methods: Prospective study of patients with HH who received hGH and rhFSH in puberty. HH diagnosed during first months of life or in adolescence (testicular volume<4cc in >16 year-old with FSH<1.2UI/L, testosterone<40ng/dL and GnRH-test with LH-peak<6UI/L)<p class...

Background: Diazoxide and octreotide are first and second-line of treatment for HH respectively. Long-acting somatostatin analogue (Lanreotide, LA) has been used in adults with neuroendocrine conditions through its effect on somatostatin receptors 2 (SSTR2) and 5 (SSTR5).Objective and hypotheses: (i) To evaluate the efficacy, safety and pharmacokinetics of LA therapy in children with HH. (ii) To determine somatostatin receptor expression on pancreatic al...

Background: Congenital hyperinsulinism (CHI) is cause of severe hypoglycaemia. Octreotide (somatostatin analogue), given as four times daily s.c. injections or via a pump, is used as second line treatment in diazoxide unresponsive CHI patients.Objective and hypotheses: The aim of our study was to evaluate the use of a long acting somatostatin analogue (Lanreotide) in patients with CHI.Method: Diffuse CHI patients above three years ...

Background: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia in children. Diazoxide and daily octreotide injections are first and second-line of treatment for CHI respectively. Diazoxide can cause severe hypertrichosis resulting in parental anxiety and compliance issues.Objective and hypotheses: To evaluate the efficacy, safety and pharmacokinetics of Lanreotide therapy in CHI patients.Method: Patients >6 months of ...

The gut microbiome has recently emerged as a major contributor to obesity and metabolic disease. Specifically, Bifidobacterium animalis sups. lactis (BAL) has shown promise for obesity treatment in human subjects, improving body composition and metabolic health. Moreover, tryptophan metabolism, a crucial regulator of satiety mechanisms and anxiety, is a main target of BAL. Given that clinical manifestations of Prader-Willi syndrome (PWS) include hyperphagia, ...

Background: BRAF is a component of the RAS/MAPK signalling pathway; germline mutations in components of this pathway are associated with congenital abnormalities such as Cardio-Facio-Cutaneous (CFC), Noonan and Costello Syndromes. These syndromes, known as RASopathies, are characterised by variably penetrant central nervous system, cardiac and facial abnormalities. Importantly, short stature and delayed puberty have been associated with these syndromes, as have featur...

Background: Noonan syndrome (NS) is caused by variants in multiple genes regulating the RAS/MAPK signalling cascade. NS can present with growth failure associated with growth hormone insensitivity (GHI; low IGF-I and normal/elevated GH levels). Variants in LZTR1 lead to NS, although the interaction of LZTR1 with the RAS/MAPK and the GH-IGF-1 pathways remain to be elucidated.Objectives: To gain insights into the ...