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: Fibrous dysplasia (FD) is a rare bone disorder characterized by the proliferation of fibrous tissue within the bone, leading to pain, deformity, and an increased fracture risk. While management primarily focuses on symptomatic relief, surgical interventions, calcium supplementation, and vitamin D therapy, bisphosphonates have been used as a therapeutic option in children. However, studies of bisphosphonate efficiency have shown inconclusive results...

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...

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...

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...

Introduction: Children born small for gestational age (SGA) may present permanent short stature. Recombinant human Growth Hormone (rhGH) treatment is recommended for those without spontaneous catch-up growth, however it is not universally available in the Brazilian health care system. Response to treatment may be different across populations since there are many etiologies to SGA birth.Objective: to evaluate adult height...

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable cause of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamo-pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). T...

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...

Introduction: Isotretinoin is used for treatment of dermatological diseases, such as severe acne. It’s also recommended for treatment of high-risk neuroblastoma and pediatric medulloblastoma, but in these cases higher doses are necessary.Case report: A 12-year-old male patient with poorly differentiated embryonal origin carcinoma in the posterior fossa and implants in the neuroaxis. Next-generation sequencing genet...