ESPE Abstracts

Background and Objectives: Achondroplasia (ACH) is characterized by severe short stature with a height deficit of approximately 6 SDS below that of average stature. Our objective was to evaluate the impact of height deficit on health-related quality of life (HRQoL) and functional independence in children with ACH.Methods: Height Z-score, HRQoL, and functional independence data were obtained from children with ACH who enr...

Aims: Historical I-CAH data shows considerable variation in the management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in infancy despite existence of several guidelines. Using the I-CAH registry we analysed contemporary early infancy natural history data, creating benchmarks as part of continuous quality improvement.Methods: Of 136 infants born in 2018-2023 and treated for 21-OHD CAH withi...

Aim: to examine the effects of supervised cycling sprint interval training (SIT) on serum osteocalcin, lipocalin-2 and sclerostin levels, and bone mineral characteristics among obese adolescent boys.Methods and subjects: untrained adolescent obese boys (n=14) aged 13.4 ± 0.3 were assigned to either a 12-week SIT group (3 sessions/week) or a non-exercising control group (n=14) who continued with their...

Introduction: It is thought that long-term growth hormone (GH) treatment may impair hepatic glucose production and insulin-dependent glucose utilization, and therefore it is attributed that GH may adversely affect glucose metabolism.Objective: In our study, we aimed to examine the effects of GH treatment on insulin sensitivity and glucose metabolism in patients with GH deficiency after 1-year of treatment.<p class="a...

During the COVID-19 pandemic, a significant increase in Central Precocious Puberty(CPP) has been observed worldwide. The reasons for this phenomenon are yet unclear. In order to evaluate if fear, stress and coping strategies used by children and parents when dealing with negative emotional situations and health issues might have acted as triggers for this phenomenon, we administered specific questionnaires to girls who had a diagnosis of CPP before and after the COVID-19 relat...

Background: Transgender adolescents may be treated with gender affirming hormone therapy (GAHT) consisting of gonadotropin-releasing hormone agonists (GnRHa) and cross-sex hormones. Limited data are available regarding the metabolic effects of GAHT in adolescence.Objective: To evaluate the lipid profiles and HbA1c in transgender adolescents after one year of cross-hormone treatment.Patients...

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy(APECED) is a rare autoimmune disease caused by a loss-of-function mutation in the autoimmune regulator gene(AIRE). AIRE gene mutation disrupts the negative selection of self-reactive T cells in the thymus, causing autoimmune reactions in endocrine and non-endocrine tissues. Impairment in T cell function is also associated with susceptibility to specific infections along with autoimmun...

Introduction: Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary gland manifesting with varying degree of anterior pituitary insufficiency. It is presented with isolated growth hormone deficiency or multiple anterior pituitary hormone deficiencies. It is characterized by the triad of thin or interrupted pituitary stalk, hypoplasia or aplasia of adenohypophysis and ectopic or absent neurohypophysis. It is manifested with hyp...

Background: Presence of current acne is well described in adolescents and adults with altered sex steroid levels, e.g., in polycystic ovarian syndrome, androgen producing tumors and misuse of anabolic androgenic substances. However, less is known about the impact of physiological concentrations of testosterone and dihydrotestosterone (DHT) quantified by gold standard LC-MS/MS methodologies on the development of acne in healthy adolescent boys and girls.<p ...

Introduction: Pediatric adrenocortical tumors (pACT), comprising highly malignant pediatric adrenocortical carcinomas (pACCs) and less aggressive adenomas (pACAs), present a rare yet clinically significant challenge. pACTs often pose a diagnostic and therapeutic dilemma due to their elusive differentiation and resistance to therapy. Originating from the adrenal cortex, pACTs are functional and, thus, characterized by a unique urinary steroid metabolome. This s...