ESPE Abstracts

Background: Hyperinsulinemic androgen excess is the most common cause of hirsutism, acne, seborrhea and menstrual irregularity in adolescent girls. The ovarian androgen excess originates most often from an absolute or relative excess of fat (in adipose tissue and in organs such as the liver) and from the ensuing elevations in insulinaemia and gonadotropin secretion. There is no approved therapy for androgen excess in adolescent girls. The prime recommendation is to reduce body...

Background: Since its introduction in 1978, assisted reproductive technologies (ART) have been widely used to treat infertility. Worldwide, over 8 million children have been conceived by ART. Literature suggests that ART-adolescents potentially display altered vascular function. However, data concerning the cardiometabolic impact on the vascular function in ART-adolescents is limited. This study aimed to investigate the effects of blood lipids and HbA1c-levels...

Background: Kabuki syndrome (KS) is a rare multiple congenital malformation and intellectual disability syndrome. KS is caused by pathogenic variants in the genes KMT2D or KDM6A. In 0.3-4% of patients, KS is reported to be associated with hyperinsulinemic hypoglycemia. The objective of this study was to characterize the clinical, biochemical and molecular data of children with KS and hyperinsulinemic hypoglycemia.<s...

Background: Transient neonatal diabetes (TNDM) is commonly caused by a methylation loss in the 6q24 region, either in isolation or as multiple-loci demethylation due to ZFP57 gene mutation. TNDM is biphasic; usually resolves after 2–3 months but often recurs between age 4 and late adolescence.Case: The boy was born at 38 weeks of gestation (birth weight 3340 g, healthy consanguineous Turkish parents, unremarkable pregnancy). He presented at...

Introduction: Gliomas are the most common solid tumours during childhood. In children with neurofibromatosis Type 1 (NF1) and optic pathway glioma (OPG), growth hormone excess has been described. However, this phenomenon has not been reported in children with OPG without NF1. We aimed to describe the growth and IGFs/IGFBP3 levels in a large cohort of paediatric patients with non-NF1- associated central nervous system (CNS) tumours.Method...

Background: Very tall people attract a lot of attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth.Methods and Results: We studied a three-generation pedigree with several isolated (non-syndromic) tall members by whole exome sequencing; the tallest man had a height of 2...

Background & Aims: Children with acute lymphoblastic leukemia (ALL) frequently receive high doses dexamethasone during treatment, which may induce acute side effects. The aims of the current study were to determine the influence of a five-day dexamethasone course on changes in leptin, fat mass, body mass index (BMI), hunger, sleep and fatigue and to explore the associations between these changes.Methods: Pediatric AL...

Background: Sitosterolemia is a rare autosomal recessive disorder characterized by intestinal hyperabsorption and decreased biliary excretion of dietary plant sterol, due to mutations in adenosine-triphosphate (ATP)-binding-cassette (ABC) transporter family (ABCG8 and ABCG5).Case report: A 7.86 years old boy was referred to the Childhood Lipid Clinic due to incidental finding of hypercholesterolemia: total cholesterol 524 mg/dl (13.54 mmol/l), LDL-choles...

Context: For transgender women undergoing gender-affirming hormone therapy (HT), breast development is an important treatment outcome. Since earlier studies showed small breast volumes in trans women treated with HT, we hypothesized that testosterone exposure during puberty might negatively influence breast development and that early initiation of puberty suppression (PS) might have a positive effect on breast development.Aim:</s...

Background/objectives: Individuals born small-for-gestational age (SGA), especially those who experience postnatal catch-up growth, are at increased risk for developing endocrine-metabolic abnormalities before puberty. In adults, brown adipose tissue (BAT) has been associated with protection against metabolic disorders, such as obesity, type 2 diabetes and dyslipidaemia. Here, we assessed for the first time whether BAT activation differs between prepubertal children born SGA o...