ESPE Abstracts

Background: Noonan Syndrome (NS; OMIM 163950) is a common autosomal dominant disorder distinguished by facial dysmorphism, short stature, heart defects, chest deformities, and learning disabilities or mental retardation. NS stems from heterozygous germline causative variants in genes regulating the RAS/MAPK signaling pathway, including PTPN11, SOS1, RAF1, RIT1, KRAS, NRAS, BRAF, LZTR1, and SOS2. The condition exhibits considerable clinical variability and shar...

Background: The beginning and evolution of physiological puberty may be occurring earlier, resulting in change in the age at which clinical investigation on precocious puberty must be conducted, as well as concerns regarding the possible deleterious effects of hormone exposure in a later stage of life.Objective and hypotheses: Assess age of beginning and evolution of puberty in boys and girls acknowledging the age of thelarche (T), menarche (M), period b...

Introduction: Neck Circumference (NC) has been pointed out as an important indicator in the evaluation of overweight and may be useful to determine the level of obesity and metabolic alterations.Objective: To verify the relationship between the NC and the lipid profile in adolescents with overweight or obesity.Methods: A cross-sectional study with adolescents between 10 and 19 years old, of both sexes attended at the Endocrinology ...

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with an autosomal dominant mode of inheritance and high penetrance. To this date, it is known 13 subtypes of MODY with different genetic etiologies. It is characterized by high incidence in the family, an early onset and primary defect in pancreatic β-cell function.Objective and hypotheses: The primary objective of this study is to identify patients with MODY an...

Background: Paediatric bone marrow transplantation (BMT) can lead to endocrine dysfunctions due to common pre-procedure protocols involving chemo and radiotherapy.Objective and hypotheses: To evaluate the prevalence and time-of-onset of endocrine dysfunctions after BMT in children and adolescents.Method: A retrospective cohort-study design was performed. The inclusion criteria were: age range less than 18 years old at the time of t...

Background: Mc Cune Albright (MAS), is a rare genetic disease clinically defined by bone fibrous dysplasia (BFD), café au lait skin spots and at least one hyperfunction endocrinopathy. Growth Hormone (GH) excess has been described in 20% of patients usually accompanied by hyperprolactinemia (80%). As reported in literature GH hypersecretion is allways associated with craniofacial BFD, macrocephaly and is also accompanied by higher risk of systemic...

Background: Most studies examined immune/inflammatory parameters in type 1 diabetes mellitus (T1D) showing discrepant results and not yield definitive conclusions. A study carried out by our group in 2013 compared meta-immunologic profiles of three groups: high-risk children, newly diagnosed children affected by T1D and controls.Objective and hypotheses: To compare metabolic profile in three groups: children affected by T1D and an additional autoimmune d...

Background: The correlation between obesity and depression is well established. Tryptophan (Trp) is an essential amino acid that acts as substrate for serotonin and melatonin biosynthesis, both know to play a role in satiety, anxiety, and depression. Furthermore, low plasma Trp levels have been associated with obesity.Objective: To investigate the effects of Trp supplementation as a conjunctive therapy to conventional life-style intervention on weight lo...

Background: Glucose metabolism effects of vitamin D deficiency are debated. GH therapy is associated with increased insulin values and decreased insulin sensitivity.Objective and hypotheses: To investigate vitamin D status in short children treated with GH- to investigate if the known effects of GH therapy on glucose metabolism are modulated by vitamin D supplementation.Method: 41 children treated with GH for short stature where ev...

Background: Thyroid disorders (subclinical hypothyroidism and structural abnormalities) are common in Williams syndrome (WS) patients.Objective and hypotheses: Central hypothyroidism and GH deficiency (GHD) in a WS patient are discussed.Method: Case report and literature review.Results: A 5-month-old male was admitted to our hospital because of growth failure since the 3rd month, mild dysmorphisms, micropenis...