ESPE Abstracts

Background: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain. This protein is located within the internal membrane of mitochondria. COX deficiency is an inherited mitochondrial disease associated with considerable genetic and clinical variability(1). In fact, four clinical subtypes of this condition have been identified, each one with several phenotypic and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 is a rar...

Background: The prevalence of childhood obesity is increasing worldwide and Glucagon-like peptide 1 analogs have emerged as a new tool for its management. To date, Liraglutide has been approved for the treatment of obesity in adolescents over 12 years of age by the FDA & EMEA and in Chile (July 2021).Objectives: evaluate the % decrease in BMI SDS and total body fat percentage in adolescents with obesity who received ...

Background: Obesity and overweight are important disturbances, considering their consequences, especially in children. Diet composition is an important factor involved in weight management.Objective and hypotheses: The aim of this study was to analyse the food pyramid and dietary patterns of obese children.Method: An observational study was conducted targeting obese children from Romania. The study included 63 children, age 3–...

Introduction: Bilateral adrenal hemorrhage is a rare pathology, contrary to what happens with unilateral ones. It is more common in newborns and associated with situations of perinatal hypoxia, sepsis, traumatic births, or coagulation abnormalities. The classic triad includes jaundice, anemia, and a flank mass, which can lead to severe shock. Extensive bilateral hemorrhage is required to produce a situation of adrenal insufficiency. The diagnosis is made by im...

Introduction: X-linked hypophosphatemic rickets (XHR) is the most common form of hereditary rickets, with an estimated incidence of 1: 20.000 individuals. The main characteristic of the disease is excessive renal phosphate loss, which leads to hypophosphatemia with high phosphaturia and defective bone mineralization.XHR results from mutations in the in the PHEX gene (Phosphate Regulatory Gene with Homology for Endopeptidases located on t...

Introduction: Brown adipose tissue (BAT) secretes molecules capable of modulating systemic metabolism. Growth hormone (GH) has hyperglycemic action, produces lipolysis and increases muscle mass. However, there are no human studies on its effect on the BAT and lipidome.Aim: To evaluate the effect of GH on BAT and lipidome in small for gestational age (SGA) patients and its relationship with adherence to treatment.<p c...

Background: Androgen insensitivity syndrome (AIS) is an X-linked hereditary disease with AR gene loss-of-function mutations in 46,XY patients. They undergoes poor development of secondary sex characteristics, except for breast development at puberty. AIS patients are prone to develop germ cell cancer, even though with lower incidence than in dysgenetic gonads secondary to defects in organogenesis.Case presentation: We described a 3-years-old gir...

Background: The phenotype of SHOX aploinsufficiency is highly variable also in affected members of the same family with broad differences in severity of short stature, disproportion, presence of Madelung deformity.Case presentation: We present a family with a new mutation of SHOX gene. A 2.3 years old girl, born at term from unrelated parents, came to our observation for short stature. Her height was −2.02 SDS, arm span was normal, sitting heigh/he...

Background: Silver Russell Syndrome (SRS) is characterized by pre- and postnatal growth failure, relative macrocephaly at birth, prominent forehead, feeding difficulties and body asymmetry. The diagnosis is clinical, the genetic mechanisms involved are different, in 50% of cases loss of methylation (LOM) at the paternal H19/IGF2:IG-DMR (chr11p15.5), in 10% of cases maternal uniparental disomy of chromosome 7 (UPD(7)mat), cases of maternal uniparental ...

Background: Congenital hypopituitarism (CH) genetics is highly heterogeneous. The massive use of NGS identified at least 21 desease causing genes. Not fully understood inheritance mechanism, incomplete penetrance and variable expressivity explain the complexity of phenotype-genotype correlations. To further complicate the scenario, the co-occurence of more than one desease-causing genes variants can geopardize the phenotype. Herein, we report the heterogeneous...