ESPE Abstracts

Introduction: Short stature is a frequent reason for consultation in the paediatric age group. After appropriate clinical, radiological and laboratory evaluation, up to 60-80% of children are classified as idiopathic short stature (ISS) because no underlying cause can be found. Nowadays, the spreading of molecular is revealing that many of the patients initially classified as TBI, have variants in genes involved in the growth plate development. IHH gene is inv...

Introduction: Recombinant GH is an effective treatment for short children who are born small for gestational age(SGA). Short children SGA who fail catch-up growth by 4 years of age are candidates for GH treatment, at a dose of 35–70 μg/kg per day. Factors associated with response to GH treatment during the initial 2–3 years of therapy include age and height standard deviation scores at the start of therapy, midparental height, and GH dose. It is important to kno...

Introduction: The accumulation of fat in the liver is a serious complication of childhood obesity seems to be associated with cardiometabolic risk.Objective: To examine the association between fat accumulation in the liver and cardiovascular risk factors in overweight children.Material and methods: In the study 68 children/as (51.4% girls) were overweight or obese (defined according to the classification criteria of the Internation...

Background: CREB-regulated transcription coactivator 3 (CRTC3) is found in adipocytes where it may promote obesity through disruption of catecholamine signaling. CRTC3 knockout mice are resistant to diet-induced obesity.Objective and Hypotheses: The goals of the present study were i) to assess whether CRTC3 is a soluble protein secreted by adipose tissue ii) to explore whether CRTC3 is detectable and quantifiable in the circulation, and iii) to ...

Background: Insulin/IGF1 signaling plays a critical role in central glucose bioavailability and lipid metabolism. An increase in glucose disposal can generate reducing agents through the pentose-phosphate pathway necessary for the synthesis of free fatty acids (FFA). Disturbances in lipid synthesis are related to the appearance of insulin resistance and diabetes. The insulin receptor substrate 2 (IRS2) deficient mice (IRS2−/−) is an excellent model to st...

Background: Vitamin D3 (25OHD) insufficiency is becoming a public health issue. Adequate 25OHD status during pregnancy may influence the health status of the offspring.Objective and hypotheses: To evaluate the levels of 25OHD during pregnancy (at 12 weeks) and at 4 years old, assessing seasonality, time of sun exposure, and intake.Method: Data were obtained from 485 pregnant mothers recruited in Asturias between 2004 and 2007 and t...

Background: Sex hormone-binding globulin (SHBG) is the major sex steroid carrier protein. Its production is negatively regulated by insulin and monosaccharides. The concentration of SHBG increases between 16 and 27 weeks gestation and is negatively associated with pre-gestational BMI and weight gain during pregnancy. The link of SHBG with cardiovascular risk is poorly understood.Objective and hypotheses: In obese pregnant women, we aimed to study the ass...

Introduction: McCune–Albright syndrome (MAS) is a rare disease defined by café-au-lait spots, gonadotropin-precocious puberty and fibrous dysplasia. It could be associated with others endocrinopathies: thyroid involvement as a common feature. The prevalence is very low, being outstanding the neonatal diagnosis, especially in males.Case presentation: A male term newborn with a café-au-lait extensive spot involving the back, arms, legs and s...

Due to the increase in prevalence of childhood obesity, more obese children are referred to the endocrinologist for the hypothalamus-hypophysis-adrenal axis assessment. The circadian rhythm (CR) of cortisol in saliva (SAF) may constitute a non-invasive, first line test to exclude hypercortisolism on obese children.Aim: To evaluate possible disturbances of CR of SAF in obese children with clinical signs of hypercortisolism.<p class="a...

Background/Introduction: Whole exome sequencing (WES) revolutionized clinical genetics in patients with differences of sex development (DSD). However, our ability to interpret WES data is limited by our incomplete understanding of the mechanisms involved in DSD. Thus, we created a methodology that scores potential candidates based on single cells transcriptomics of human male gonadal cells and applied it to WES data from a cohort of genetically male (46,XY) DS...