ESPE Abstracts

The skeletal research field develops rapidly and has produced several exciting findings in the last year and includes advances in the treatment of rare skeletal disorders and an ever deeper understanding into the fundamental molecular mechanisms that control skeletal development, metabolism, growth, and mineralization. The targeting of the C-type natriuretic peptide (CNP) pathway and options to directly antagonize the overactivity of the FGFR3 pathway in achondroplasia continu...

Introduction: Compelling evidence suggests that Primary Aldosteronism (PA) is much more prevalent than previously thought, accounting for more than 20% of patients with resistant hypertension. Although, major advances have been made in the field of genetics underpinning sporadic and familial forms of PA, the etiology of mild forms of PA is poorly understood. In previous studies, we identified a distinct cohort of patients without PA who exhibited ACTH-dependen...

Introduction: In the last year, the pediatric services have seen a reduction of up to 50% of the consultations and 1/3 of the admissions to the hospitalization ward; However, the existence of other pathologies cannot be forgotten despite the current situation, such as hypothyroidism, diabetic ketoacidosis, short stature, precocious puberty, etc., as far as endocrinology is concerned. Difficulty in accessing primary care, non-contact visits, along with the fear of families to g...

Objective: Puberty has a significant contribution to different psychosocial wellbeing aspects. Hence; it is crucial to understand the normal variations in onset and tempo of puberty in a specific population. In this study, we aimed to provide normative data on timing of onset of puberty and age of menarche in Saudi schoolgirls in RiyadhMethods: This is a cross-sectional field study (2011-2013) including Saudi schoolgirls...

Background/Purpose: Hyperprolactinemia is a rare endocrine disorder in childhood and there are limited etiological, clinical, and demographic data. The purpose of this study was to evaluate the clinical features and course of hyperprolactinemia in childhood and adolescents and to help diagnose and plan the management.Methods: In this single-center retrospective study included 21 patients with hyperprolactinemia from Ajou...

Introduction: The incidence of autoimmune thyroid diseases (ATD) is constantly rising. Graves’ disease (GD) remains the most common cause of thyrotoxicosis in pediatric population, but the exact pathogenesis of GD is still not fully understood. The immunological basis of ATD assumes an imbalance between effector and regulatory T lymphocytes. B regulatory cells (Breg) are able to suppress the pro-inflammatory properties of effector T cells. Methimazole (M...

Background: Practicing as a Pediatric Endocrinologist in Armenia means living in a middle- to low-income country with semi-closed borders associated with war and conflicts. There are therefore fewer opportunities to attend educational events or training at highly rated hospitals worldwide to improve knowledge and skills on pediatric endocrinology. In April 2023 the Endocrine Society of Pediatric Endocrinologists (ESPE) held the ESPE Caucasus & Central Asia...

Background: The increase of global childhood obesity has led to an increase of associated co-morbidities also at a young age. The pro-inflammatory state and insulin resistance are two master regulators of several complications, including hypertension and pre-diabetes frequently connected in a complex crosstalk.Aim: To evaluate the relationship between glucose alterations and blood pressure and the pathogenetic involvemen...

Background: Mutations in the gene encoding the Chromodomain Helicase DNA-binding protein 7 (CHD7) are found in 60% of patients with CHARGE Syndrome (Coloboma, Heart Defects, Choanal Atresia, Retarded growth and development, Genital hypoplasia, Ear abnormalities and/or hearing problems) and in 6% of patients with Kallmann syndrome.Objectives and hypotheses: To describe a novel CHD7 mutation and its clinical presentation.<p class="abs...

Background: Autoimmune diseases have a higher incidence and prevalence among the individuals with Down syndrome (DS) compared to chromosomally normal people (increased risk for thyroid, gut and islet autoimmunity, juvenile idiopathic arthritis) These findings provide insights into a very aggressive phenotypic expression of autoimmunity in DS children.Objective and hypotheses: To investigate for the 1st time whether the association with DS might per se mo...