ESPE Abstracts

Introduction: Thyroid carcinoma in pediatric and young adult population presents contradictory features: it has higher rates of multifocal disease, local and distant metastasis and reccurence compared to the adult population, yet the 5-year survival rate is 98%. The rising incidence seen recently cannot be entirely explained by overdiagnosis, as increasing rates of advanced-stage disease are also observed. The rise consists primarily of papillary thyroid carci...

Background and Aim: Germline mutations in the tumor suppressor gene PTEN cause PTEN Hamartoma Tumor Syndrome (PHTS). Pediatric patients frequently develop lipomas. PTEN antagonizes the growth promoting PI3K/AKT/mTOR pathway. There is no current treatment option except surgery. Treatment attempts with the mTORC1 inhibitor Rapamycin could not reverse lipoma growth. Recently, lipomas associated with a related syndrome caused by mosaic activating PI3K mutations (P...

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

Lockdown and school closure related to COVID-19 pandemic increased sedentary time and greater consumption of ultra-processed foods, an environment that may exacerbate the childhood obesity epidemic. In Brazil, public schools remained closed for more than 40 weeks. In Brazil, prior to the current pandemic, 15.9% of children under 5 yr.-old, 29.3% of those between 5 and 9 yr.-old and 30.8% of adolescents were overweight. Aims: To verify the impact of school closure on the weight...

Background: Approximately 15 million children are born preterm worldwide yearly.Objective and hypotheses: To evaluate spontaneous growth during the first 8 years of life.Hypotheses: Preterm born children have spontaneous recovery of weight and height in the first 8 years of life.Method: Measurements at birth, 6, 12 and 24 months of corrected age and at recall [6.4±0.5 years (5.2–8.0)]. Weight, lengt...

Case Report: Patient 1: a 3.6-yr-old girl presented with very severe hypertriglyceridemia (serum triglyceride level >1000mg/dL) in random sampling in the first year of life. She presented with recurring episodes of abdominal pain, and splenomegaly. There is no history of consanguineous marriage. Maternal and paternal family had history of coronary events at an early age. A genetic panel showed homozygous variant chr8:19.953.365 C>T (p.Ala162Val) in the l...

Background: Congenital hypothyroidism (CH) affects one in 3000 children at birth. In 65% of cases, CH is due to thyroid dysgenesis (CHDT). For CHDT, there is a family component and therefore genetic. Over the past 20 years, disease-causing mutations in 10 genes have been implicated in CHDT cases (NKX2-1/TTF1, FOXE1/TTF2, NKX2-5, PAX8, GLIS3, NTN1/Netrin-1, JAG1, BOREALIN/CDCA8, TUBB1</...

Background: While the risk for hypoglycemia during acute illness is well described in children with classical congenital adrenal hyperplasia (CAH), there is little evidence for the prevalence of asymptomatic hypoglycemia in CAH. We explored the glucose profile of children with classical CAH by the use of continuous glucose monitoring (CGM).Methods: We conducted an observational study in children aged 1-6 years with a dia...

Background: The hypothalamus-pituitary-adrenal (HPA) axis displays a diurnal rhythm, peaking in the morning and with a nadir at night. However, not much is known about the development of the HPA- axis, although strikingly some evidence suggests that a rhythm with a peak in the afternoon is already present antenatally. We aimed to describe HPA-axis activity at age 1 month as well as study possible influencing factors.Methods</stro...

Background: Childhood obesity is associated with advanced bone age (BA), leading to an altered growth pattern. Previous results of studies suggest that androgens, estrogens, sex hormone binding globulin (SHBG) and insulin are responsible for this phenomenon, but results are contradictory and might be biased by confounders.Objective and hypotheses: To investigate the independent effects of estrogens, androgens, SHBG and insulin parameters on BA advancemen...