ESPE Abstracts

Introduction: Pediatric obesity is an important public health problem. Exogenous obesity represents most cases; in some children, obesity is attributable to endocrine or genetic disorders. Genetic etiology should be considered in children with dysmorphic features, global developmental delay, early onset severe obesity (before 5 years), hyperphagia or severe obesity family history. Regardless of the etiology, treatment must begin with long-term lifestyle change...

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is due to the failure of gonadotrofin releasing hormone (GnRH) secretion which impairs the physiological initiation of puberty. About 30 to 50% of IHH is associated to hereditary causes and about 50 mutated genes have been identified.Objective and methods: We present three intra-familial cases of normosmic IHH (nIHH) related to a new association of two hetero...

Background: Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in aetiology. One known form associated to steroid biosynthesis impairment is the Antley-Bixler Syndrome (ABS). ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and altered steroidogenes should be recognized as possibly having P450 oxidoreductase deficiency, with mild do moderate 17 OH progesterone (17HOP) elevation ...

Introduction: Down syndrome (DS) is a chromosomal disorder. Children with DS have different height and weight patterns compared to children without DS. The aim of our study was to compare anthropometric parameters (expressed in standard deviation score-SDS) of people with DS using charts for DS and population (P) charts.Materials and Methods: The study group consisted of 114 patients with DS (64 girls), aged 4 months – 36 years (average age: 8.2 yea...

Background: The SARS-CoV-2 pandemic has forced the authorities to impose a lockdown to minimize the risk of infection. This extreme and prolonged situation has caused changes in habits, dietary and glycemic control in children with type 1 diabetes (T1D). Continuous glucose monitoring (CGM) and Flash glucose monitoring (FGM) have allowed health care professionals to a remote control of the patients.Aim: The aim of the stu...

Background: Newborns admitted to the intensive care unit (ICU) are exposed to multiple painful and stressful procedures. It is postulated that high pain exposure in the first weeks of life can have a long-lasting impact on the hypothalamic-pituitary-adrenal (HPA) axis. Assessment of the salivary cortisol (SC) is a useful method for non-invasive monitoring of baseline activity and stress response of HPA axis.Objective: An...

Background: Seip-Berardinelli syndrome is a rare form of congenital lipodystrophy.Objective and hypothesis: To report a patient later diagnosed with Seip-Berardinelli syndrome referred initially for evaluation due to low weight gain.Population and/or methods: We performed the report of the case along with a literature review.Results: The patient was referred due to low weight gain. She was the second daughter...

Background: Obesity is a worldwide epidemic affecting adults and children. Social changes throughout history have contributed to modifications in nutrition and physical activity levels. These changes in lifestyle affected health, increasing the number of metabolic and cardiovascular diseases. Obese children already have a low grade systemic inflammation as well as markers of increased cardiovascular risk. The endothelial function is an important and early marker of atheroscler...

Background: Autosomal recessive omodysplasia is considered a rare skeletal dysplasia characterized by severe micromelia with shortening and distal tapering of the humeri and femora.Objective and hypothesis: To report the prenatal findings of a patient with autosomal recessive omodysplasia, a rare condition characterized by disproportionate short stature.Population and/or methods: We performed a description of the case along with a ...

Introduction: Vitamin D-dependent rickets type I (OMIM # 264700) is a rare autosomical recessive disorder that affects vitamin-D metabolism characterized by severe hypocalcaemia with moderate hypophosphatemia. The most common form is type IA, caused by the mutation of gene coding for 1-alpha-hydroxylase (CYP27B1OMIM * 609506. 12q14) that converts the 25-OH-vitaminD in 1,25-OH-vitaminD.Case report: A 2.3 years female with...