IMPE Abstracts

Introduction: Phaeochromocytomas and paragangliomas (PPGLs)are rare neuroendocrine tumors. The number of genetically determined PPGLs with specific variants rises to approximately 70%. The genetic status of patients with PPGLs is key for precision diagnosis, treatment and surveillance of affected patients and their families. Pathogenic gain-of-function variants in EPAS1gene, mainly as germline mosaicism or somatic mutations, cause its activation and l...

Background: Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder commonly caused by MAFB gene mutation. It is characterized by aggressive carpo tarsal osteolysis frequently associated with progressive nephropathy. MAFB negative regulates receptor activator of nuclear factor κB ligand - (RANKL) mediated osteoclast differentiation.Problem: The diagnosis and treatment of MCTO represents a ch...

Background: Obesity onset at early ages influences skeletal maturation, growth and the onset of adrenarche and puberty. How this influence is exerted, the differences between sexes and the influence of obesity severity are insufficiently addressed.Objectives: To explore the patterns and pace of pubertal development, including the pre- and pubertal growth spurt in children and adolescents affected with obesity.<p clas...

Introduction: The Final height prediction (FHP) is a frequently used tool among pediatric endocrinologists. There are different methods which include height percentile, mean parental height, and bone age, but there is no consensus on clinical application in children with growth and puberty disorders.Objective: To investigate the clinical utility that Chilean pediatric endocrinologists grant to FHP; the methods used, the ...

Introduction: Intracranial germ cell tumors (iGCTs) are rare neoplasms that mainly affect adolescents and young adults. iGCTs are divided into germinoma and non-germinomatous germ cell tumors. The hypothalamic-pituitary region is the second primary site of iGCTs after the pineal region. The iGCTs with isolated pituitary stalk involvement are rare and difficult to diagnose. They should be suspected when there is a pituitary stalk thickening >6.5 mm or a coex...

Objective: Identify the factors association with the serum level of RIAO (real IAPP amyloid oligomers) <3.02 μg/ml at the diagnosis of the DM2 as a predictor of development of chronic complications in children and adolescents.Type of study: Historical cohort, observational, longitudinal, futurology, comparative,Materials and methods: The DM2 patients with determinations of RI...

Introduction: Thyroid nodules (TN) in childhood are infrequent, however, malignancy is reported in around 25%. Thyroid cancer is the most common endocrine malignancy in this age and has clinical, histopathological and molecular differences compared to adults. Fine needle aspiration biopsy (FNAB) is a sensitive test in the pediatric population to exclude malignancy, however, the implied malignancy risk in each reported category is extrapolated to adult populati...

In the setting of iodine excess, organification of thyroglobulin is blocked, serving as a protective mechanism against hyperthyroidism. This phenomenon, the Wolff-Chaikoff effect, can result in persistent hypothyroidism. Excessive iodine exposure is usually iatrogenic, coming in the form of radiographic dyes, amiodarone, and povidone-iodine antiseptic solution. In March 2022, the US Food and Drug Administration (FDA) released a statement that at-risk children up to age 3 years...

Background: Transgender and gender-diverse (TGD) individuals are exposed to many factors which have the potential to affect their bone mineral density (BMD). Among these factors are eating habits, exercise, calcium and vitamin D intake. Moreover, as these individuals are children and adolescents, who have not accomplished peak bone mass (PBM) yet. This fact raises the question of whether TGD youth should have routine bone health assessment.<p class="abstex...

Introduction: Insulin sensitivity is a marker of cardiovascular health. Young women in reproductive age with type 1 diabetes (T1D) have an increased risk of cardiovascular disease. The metabolic effects of combined oral hormonal contraception (OC) and progestin implant (implant) on insulin sensitivity in young women with T1D are unknown.Objective: To determine the effect on insulin sensitivity in young women with T1D of ...