IMPE Abstracts

Objective: to assess the association of different markers of adiposity during childhood with different pubertal milestones (age at: thelarche, pubarche, menarche, and peak height velocity (PHV)).Design: longitudinal follow-up of 539 female participants of the Chilean Growth and Obesity Cohort Study.Setting: A population-based study from the low-middle socioeconomic status of the So...

Septo‐optic dysplasia (SOD) or Morsier's syndrome is a congenital developmental anomaly of the brain that could present absent of septum pellucidum and corpus callosum, optic nerve hypoplasia and pituitary hypoplasia. Gene variants of the transcription factors HESX1 SOX3, SOX2, and OTX2 had been described in SOD. The two latter are also causatives genes of anophthalmia. Craniopharyngioma (CP) is a tumor with low histological grade, the association to unilateral anoph...

Introduction: Hypogonadism has a negative impact on bone quality, increasing the risk of reduced bone mineral density (BMD) and osteoporosis. Childhood cancer survivors are at risk of hypogonadism and are commonly submitted to puberty induction (PI). BoneXpert software assesses bone age (BA) from scanned X-rays and calculates the Bone Health Index (BHI) which correlates with the BMD values measured by dual-energy x-ray absorptiometry. The aim of this study was...

Background: Catecholamines and its O-methylated metabolites in urine are useful biomarkers for diagnosis of Pheochromocytoma and Paraganglioma (PPGL). Recently, liquid chromatography coupled to tandem mass spectrometry (UHPLC-MSMS) has become the technique that allows the development of analytical methodologies for the specific, precise, and simultaneous determination of different analytes.Objective: To develop and valid...

During transition phase, pituitary hormones, particularly GH, play a relevant role on body composition and bone maturation. Aim: to evaluate the effect of rhGH discontinuation during this period, particularly regarding time without treatment, IGF1 levels and the presence of hydrocortisone concomitant therapy on body composition and bone mass. Fourteen transition GHD patients (females:7) were evaluated by dual X-ray absorptiometry (DXA) after a period of discontinuation. Multip...

Introduction: Sphingosine-1-phosphate lyase 1 (SGPL1) deficiency is a recently discovered syndrome that associates primary adrenal insufficiency, hypothyroidism, nephrotic syndrome and neurological disease. We report two siblings with this condition and different clinical course.Case 1: A 5-year-old boy with a history of three episodes of gastroenteritis with dehydration was evaluated (Table 1). Glucocorticoid adrenal de...

Cushing’s syndrome (CS) is a rare pediatric endocrine disorder. Most cases originate from pituitary lesions and less than 1% are caused by ectopic ACTH-secreting tumors. A previously healthy 9-year-old girl developed abrupt weight gain, Cushingoid phenotype, and behavior changes over 5 months. Subsequently, she developed fever, diarrhea, abdominal pain, abnormal gait, and myalgia. She was admitted to a local hospital with symptomatic hypokalemia requiring IV potassium co...

Medullary thyroid carcinoma (MTC) accounts 5% of thyroid malignancies. Sporadic is in approximately 80% and hereditary in 20% of cases. When hereditary it can be associated with other benign endocrine neoplasia’s and/or typical no endocrine diseases, thus configuring the multiple endocrine neoplasia syndromes. Traditional therapies for advanced or metastatic progressive MTC (pMTC) are poorly effective so Tyrosine-kinase inhibitors (TKIs) therapy in children with MTC have...

Background: Since August 1985 we started a neonatal screening program for 1) Congenital Hypothyroidism (CH) and 2) Phenylketonuria /Hyperphenylalaninemias PKU/HPA) adding to the program in 1997 3) Cystic Fibrosis (FQ) 4) Galactosemia (GAL) and 5) Congenital Adrenal Hyperplasia (CAH), in 2006 6) Biotinidase Deficiency (BD) and in 2013 7) Maple syrup disease (MSUD).Objective: To Communicate the results of the implemented p...

Introduction: Most paediatric rare diseases have an underlying genetic cause but making a molecular diagnosis is often still a challenge. The incorporation of Next Generation Sequencing (NGS) technologies into research and clinical workflows has improved the diagnosis of these disorders.Objective: To evaluate the process of NGS implementation for the diagnosis of genetic endocrine diseases in a tertiary public paediatric...