ESPE Abstracts

Background: RARβ cooperates with Nur77 to in-vitro regulate HSD3B2 transcription. NUR77 expression parallels HSD3B2 expression with a much lower level in androgen-producing adrenocortical tissues (childhood virilizing adrenocortical tumours (VAT), fetal zone (FeZ) and zona reticularis, ZR). RARβ is down-regulated in starved, hyperandrogenic H295R cells. However, the mechanisms regulating this expression pattern and the relevance of RARβ to huma...

Background: 17-hydroxyprogesterone (17-OHP) basal levels greater than 2ng/ml has been related to the need to request an ACTH test to dismiss non-classic congenital adrenal hyperplasia. We have seen an increase in baseline levels in 2021 compared to 2020.Objectives: To determine how many of the tests that were requested due to a high basal 17-OHP value, were positive. Assess the need to modify the cut-off points to reques...

Background: The inheritable component of familial Papillary Thyroid Cancer (fPTC) was recently attributed to monogenic defects in a reduced number of genes including DICER1. DICER1 codes for a ribonuclease of the RNaseIII family essential for the biogenesis of microRNAs.Objective and hypotheses: We aimed to identify germline and/or somatic mutations in DICER1 in a familial pedigree with PTC, multinodular goiter (MNG) and other ...

Introduction: Menarche is the time of first menstrual bleed and it occurs, on average, 2 to 2.5 years after the onset of puberty. Globally, the age of menarche had been reduced since the last century.Objective: To examine the evolution of the age of menarche over the last decades and inter-regional variability in an autonomous community located in northern Spain which is divided in eight health areas.<p class="abstex...

Introduction: Childhood obesity means a Public Health problem. It is related to chronic diseases in adults, a decrease in quality of life, and an increase in social and sanitary costs. In Spain, the National Health Service (ENSE 2017) stood the prevalence of overweight in toddler between 2 to 7 years old, in 18,26% and obesity in 10,30%, no differences between sex. In 2015 the prevalence of overweight and obesity in childhood are 21, 3 % and 6, 2 &...

Background: Medulloblastoma is the most common malignant pediatric brain tumor. Although survival has improved with oncological therapy, late effects such as endocrine consequences are common, especially growth failure and thyroid dysfunction.Methods: Children diagnosed with medulloblastoma in a pediatric hospital between 2004 and 2014 were studied and followed until 2019. Statistical analysis was performed to estimate t...

Background: The aim of our study is to determine the relation of vitamin D levels (25(OH)VD) with body-mass index (BMI), age and month of extraction in pediatric patients.Materials and Methods: We present a retrospective review of medical records of patients under 18 years of age visited by the Children's Endocrinology Service (overweight and obesity) and ambulatory pediatrics (healthy and normal weight children) at ...

Objective: Analyze CCH detection program results from 3 Autonomous Communities: TSH and total T4 (TT4) in dried blood spot (DBS) at initial screening (48 hours of life) and at retesting. Describe the characteristics of neonates with screening compatible with CCH. Consider whether TBG deficiency (TBGD) is an added difficulty in said study.Materials and Methods: Retrospective study (May 2016-May 2020) of all neonates ≥33 weeks and/or ≥1500 gr...

Introduction: Somatropin has been the standard treatment for Growth hormone deficiency (GHD) since 1985. Nowadays, has been approved for the treatment of other diseases, as: Small for gestational age (SGA), Turner syndrome (TS) and Prader-Willi syndrome (PWS).Aims: Assess the efficacy of somatropin in children followed in a tertiary Hospital, at 12 and 24 months of treatment, and to compare the results based on the patie...

Introduction: Heterozygous inactivating mutations of the calcium-sensing receptor encoding gene (CASR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism (NSHPT), a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with FHH/NSHPT as well as the long-term follow-up of the proband.<p class="a...