ESPE Abstracts

Objective: Despite published guidelines, there is no single approach to management in congenital adrenal hyperplasia (CAH). The objective of the study was to explore the variations in treatment for CAH in Spain.Material and methods: A retrospective study in a single center was done analyzing the data provided by patients and relatives through the Spanish Association of CAH from a online survey of 25 questions. It was dif...

Background: Mammary duct ectasia is a bening breast condition which affects primarily middle-aged to elderly women. However, it can occurs wherever there is breast ductal epithelium.Case presentation: A 9-years-old boy was referred to the regional paediatric endocrine clinic from the General Practicioner due to gynaecomastia. Pubic hair development started at the age of 8. Personal and family history were unremarkable except for a history of coping with ...

Background: Nutritional rickets (NR) is the most common growing bone disease, and vitamin D deficiency (VDD) may predispose to other diseases (diabetes mellitus, cancer, and multiple sclerosis). Maternal VDD and exclusive breastfeeding without supplementation are the most frecuent causes of NR in the neonate. VDD is still a problem in Europe. There are few reports of maternal hypovitaminosis D and rickets in bottle-fed infants during early infancy. We report a case of Nutritio...

Background: Both The Endocrine Society and the World Professional Association for Transgender Health (WPATH) published guidelines for the treatment of children and adolescents with gender dysphoria (GD). The guidelines recommend the use of GnRH agonists in adolescence to suppress puberty, and the use of cross-sex hormones starting around age 16 for eligible patients. In actual practice, there is no consensus whether to use these early medical interventions. The aim of our stud...

Background: Disorders of Sex Development (DSD) comprise several phenotypes due to dysfunction in genes involved in human sexual determination and differentiation. The most frequent aetiologies among 46,XY DSD are androgen insensitivity syndrome and 5-alpha-reductase type 2 deficiency due mutations in AR and SRD5A2 genes, respectively.Objective and hypotheses: The purpose of this study was to investigate mutations in AR and ...

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...

Introduction: The ideal TSH filter value (TSHf) in the neonatal screening tests for Congenital hypothyroidism (CH) is worldwide controversial. Local cutoff point of TSHf was 9.0 mIU/L until recently. OBJECTIVE: To evaluate the clinical and laboratory characteristics of newborns with CH (confirmatory serum TSH > 10 mIU/L) after a lower TSH cutoff. METHODS: Cross-sectional study using data from Neonatal Screening Reference Center of State Rio Grande do Sul, ...

Background: HABP2 is an extra-cellular matrix protein involved in cell proliferation. Recently, HABP2 was proposed as responsible for the familial clustering of Differentiated Thyroid Carcinoma (FDTC). However, its involvement was questioned by subsequent studies revealing high prevalence HAPB2 polymorphisms (SNPs) in the general population, leaving its pathogenic role uncertain.Objective and hypotheses: To identify genetic HABP2</e...

Background: Neurocognitive retardation is one of the most important consequences that small for gestational age (SGA) children may suffer although conflicting results have been published.Objective and hypotheses: The aim of this study was to study psychomotor development (PD) in children born SGA during the first two years of life in order to identify children at risk as early as possible.Method: 108 cases borh SGA have been studie...

Introduction: Isolated growth hormone deficiency (IGHD) type IA causes a severe growth retardation. Their initial good response to exogenous GH is hampered by the development of anti-GH-antibodies leading to treat with IGF1 as the only therapeutic option. Here we present the evolution of a patient with IGHD type IA treated with IGF1r for more than 5 years.Description of the caseWe present a 5-year-...