ESPE Abstracts

Background: Isolated Growth Hormone Deficiency (IGHD) is usually associated with a delayed bone age. A genetic cause for IGHD is more frequently found in patients with familial cases and/or consanguineous parents.Objective and hypotheses: To diagnose the genetic cause of IGHD and clarify the unusual clinical presentation of advanced bone age in one patient born to consanguineous parents.Method: Sanger sequencing of GH1, <e...

Background: A virus initially considered benign in this age group, SARS-COV-2 has recently been associated with Pediatric Multisystemic Inflammatory Syndrome (PIMS), temporarily associated with COVID-19, a syndrome whose diagnostic determination has a vital relevance since it imposes unfavorable outcomes. This study aims to describe the sociodemographic characteristics of PIMS in Brazil and the factors associated with death by this syndrome.<p class="abste...

Background: Androgen Insensitivity Syndrome is a common form of 46,XY DSD. In the literature, 85–90% of patients with complete form of Androgen Insensitivity (CAIS) and 30% of patients with parcial form (PAIS) have the AR gene mutation identified, In most cases are found a missense mutation with aminoacid change. Mutations without aminoacid changes (silent mutations) are rarely related to human diseases and have never been identified in patients with CAIS.<p class="ab...

Introduction: Gsα is imprinted in human thyroid glands and this appears to be important in the development of moderate TSH resistance in pseudohypoparathyroidism (PHP) 1A and less severe TSH resistance in some, but not all, other forms of PHP. Obesity is a clinical condition in which subclinical alterations of thyroid function have been reported, although the relationship between thyroid status and obesity remains unclear. It is uncertain if this biochemical abnormality m...

Background: We have previously shown in a randomised controlled trial that moderate-intensity exercise over the last 20 weeks of gestation in healthy nulliparous women led to a birth weight reduction of approximately 250 g.Objective and hypotheses: We aimed to assess the long-term effects of exercise in pregnancy on anthropometry and body composition in mothers and offspring 7 years after the intervention. We hypothesized that women who exercised in preg...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol synthesis. 95% of CAH cases result from mutation in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin deficiency causes Enlers-Danlos syndrome (EDS). A variant called CAH-X, has recently been described, resulting from CYP21...

Background: Calcium homeostasis is primarily regulated by vitamin D. In the absence of the active hormone or a functional receptor, bones are inadequately mineralized, leading to the development of rickets. Vitamin D-dependent rickets type 2 (VDDR2) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene.Case Report: A 12-months-old girl was transported to the local hospital ED with a three-minute ...

Background: 125 patients between the ages of 6 and 12 years old were studiet, 100 of them were girls and 25 were boys. All of them were on medication with TSH. They were all residents in urban areas belonging to middle/upper strata of society.Objective and hypotheses: Changing it for the ingestion of nutriments. Physical exercise during at least 5 days a week. Medical treatment consisting of ferrous fumarat and folic acid.Method: D...

Background: Non-alcoholic fatty liver disease (NAFLD) is a highly prevalent chronic liver disease which occurs in the setting of insulin resistance and increased adiposity. It has rapidly evolved into the most common liver disease seen in the pediatric population. NAFLD can be divided into non-alcoholic fatty liver (NAFL), which denotes bland steatosis, and non-alcoholic steatohepatitis (NASH), which is marked by steatosis and lobular inflammation and hepatoce...

Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to characterize the histology of 46,XX DSD prepubertal gonads. We studied 25 gonads of fourteen 46,XX DSD patients. The age of biopsy/gonadectomy was 1.17 (0.08–4.17) years (median and range). Molecular studies confirmed the absence of SRY by PCR and/or MLPA in blood samples of all patients and i...