ESPE Abstracts

Introduction: Although many adolescents with gender dysphoria (GD) are being treated with GnRH analogues (GnRHa) and gender affirming hormones there is a paucity of data on the effects and side effects of this treatment in this population. We aimed to study short-term outcome of testosterone treatment in male adolescents with GD.Methods: Sixty-two adolescents who had been treated with GnRHa, and subsequently with testost...

In the past year, basic and genetic studies revealed again novel genes and mechanisms implicated in 46,XX and 46,XY DSD. The Fgf9-/- mouse model of human synostosis syndromes revealed an unexpected male-to-female sex reversal phenotype, so far not observed in humans. Specific heterozygous human WT1 gene variants located in the 4th zinc finger were found to cause 46,XX virilization due to (ovo-)testicular DSD, and the transcription factor...

Introduction: McCune-Albright Syndrome (MAS) is a rare congenital disorder caused by post-zygotic activating mutations in GNAS gene. Due to the mosaic pattern of this disease, mutation abundance is frequently low in several tissues, including blood cells. The emergence of next-generation sequencing (NGS) methodologies has allowed the analysis of millions of DNA fragments simultaneously and independently, enabling detection of low mutation abundance. Aim: To es...

Introduction: Thyroid hormones regulate body composition and metabolism, and are among the key drivers of body growth and maturation. In children, associations of cardio-metabolic measures with the circulating prohormone thyroxine (T4) have been extensively studied, but not with active triiodothyronine (T3). In apparently healthy children, we studied whether circulating free T3 (fT3) [and its ratio with free T4 (fT3/fT4)] associates with cardio-metabolic measu...

Background: Carotid intima-media thickness (cIMT) is a well-known marker of subclinical atherosclerosis. The distribution of adipose tissue among visceral fat reservoirs rather than the total adipose tissue mass is more likely to be related to subclinical atherosclerosis.Objective: The aim of this study was to determine whether epicardial and perirenal fat are more related to cIMT than body adiposity in prepubertal child...

Introduction: The incorporation of the interstitial glucose monitoring system, in the offer of services in the Andalusian Public Health System (APHS), means an opportunity for the implementation of a model of integration, and follow-up of glucose data, and the evaluation of their impact in health results.Purpose (Aim): The design and implantation of a model that allows the identification, registration of clinical data, i...

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

Background: Congenital hypopituitarism (CH), involving deficiencies in one or more anterior pituitary hormones, is rarely observed in combination with severe joint contractures, termed arthrogryposis. Schaaf-Yang syndrome (SHFYNG), which has phenotypic overlap with Prader-Willi syndrome, may be associated with arthrogryposis. L1 syndrome, a group of X-linked disorders including hydrocephalus and spasticity of the lower limbs, may also present with generalized contractures in r...

Objective: To evaluate the impact of gestational age and birthweight on dehydroepiandrosterone and dehydroepiandrosterone-sulfate (DHEA and DHEA-S) in children born very preterm (VPT) appropriate for gestational age (GA) compared to children born at term (T).Methods: We recorded anthropometric parameters in 72 VPT (<32 GA) and 41 T (≥ 38 GA) aged 5.0–8.5 years. Birthweight standard deviation scores (BW-SDS) were calculated using INTERGROWT...

Background: The C3 epimer of 25-hydroxi-vitamin D3 (Epi25OHD3) is present in the pediatric and adult population and varies according to age. If it measurement is clinically relevant and should be considered to classify Vitamin D status is still unknown.Objective: To measure 25OHD3, 25-hydroxy-Vitamin D2 (25OHD2) and Epi25OHD3 and to compare them with PTH and calcemia.Method: Subjects: Children between 5 and 8 years of age born very...