ESPE Abstracts

Introduction: Differences in sex development (DSD) comprise a heterogeneous group of congenital conditions that affect human sex determination and differentiation. We aimed to describe the clinical diagnoses of children with DSD who were referred to a pediatric tertiary center, and to examine trends in clinical features and management over three decades.Methods: This is a retrospective, cross-sectional study of children ...

Background: Isolated growth hormone deficiency (IGHD) is a relatively common disorder. Current diagnostic protocols require a brain MRI of the hypothalamus and the hypophysis after establishment of the diagnosis, with the aim of identifying structural defects and specifically rule out an underlying space-occupying lesion. An MRI scan is costly and requires general anesthesia in young children. Data on the contribution of brain MRI in diagnosing children with I...

Background: Young adults with type 1 diabetes (T1D) are exempt from conscript military service due to risk of severe hypoglycaemia and metabolic compromise. Nevertheless, there are patients who volunteer to military service.Aims and objectives: To evaluate the effect of military service on metabolic control and incidence of acute diabetes complications.Methods: Study design: retrospective, comparative analysis. Data of 145 T1D pati...

Background: Poor growth and inadequate nutrient intake by food allergic children have been suggested, particularly for children avoiding milk.Objective and hypotheses: To investigate the impact of a dairy-free diet on the final stature of IgE-mediated Cow Milk Allergy (IgE-CMA) young adults.Method: Anthropometric data was measured in 60 IgE-CMA patients (20.4±3.4 years old, 26 males (43%)) and 36 volunteers without IgE-CMA (co...

Context: Given the importance of sex hormones in metabolic regulation, dynamics in body composition and cardiometabolic alterations may occur in transgender persons receiving gender-affirming hormone (GAH) therapy.Objectives: Our aim was to explore the association between muscle-to-fat ratio (MFR) and the risk for metabolic syndrome components in transgender youth.Methods: In 71 tr...

Background: Type 1 diabetes (T1D) contributes to altered lipid profiles and increased cardiovascular disease (CVD) risk. Youth with T1D may have subclinical CVD within the first decade of diagnosis.Objective: To assess risk factors associated with dyslipidemia in young subjects with T1D.Study Design and Methods: A longitudinal and cross-sectional retrospective cohort study was cond...

Background: The major genetic causes of CPP are the paternally inherited Makorin RING-finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1) deficiencies. Exceedingly rare patients with CPP carry variants in kisspeptin system. The CPP genes are also associated with the age at menarche in the population as demonstrated by genome-wide association studies (GWAS). Nuclear Receptor Coactivator 5 (NCOA5) is a coregulator for the alpha and beta estrogen receptors a...

Background: Sexual lifestyles including sexual activity, problems, satisfaction, and the formation of relationships, are greatly affected by physical health disorders. Fear from hypoglycemic episodes during sexual intercourse and intimacy issues can impact young adults with type 1 diabetes (T1DM).Objective and hypotheses: To assess sexual lifestyles of people with T1DM.Method: A total of 53 T1DM patients (51% males), mean±SD a...

Background: Turner syndrome (TS) is a genetic disorder caused by X chromosome monosomy (45,X0) or partial absence of the second sex chromosome, with or without mosaicism. An increased frequency of autoimmune diseases and metabolic disorders has been observed in Turner patients.Objective: To compare Turner monosomy to the other X chromosome abnormalities with regards to occurrence of autoimmune diseases and metabolic disorders.Metho...

Objectives: Several case reports describe hypertension (HTN) in children treated with GnRH analogs for central precocious puberty (CPP). However, relevant data on blood pressure (BP) under GnRH analog treatment are scarce. We evaluated BP among girls with idiopathic CPP and early puberty (EP) before, during and after GnRH analog therapy, and examined associations of BP with clinical parameters.Design: A retrospective longitudinal cohort ...