ESPE Abstracts

Background: Growth disorders in children often present a multifactorial challenge involving genetics, nutrition, and endocrine function. This case report focuses on a young girl with growth retardation linked to a homozygous pathogenic variant in the PAPPA2 gene, encoding pregnancy-associated plasma protein-A2 (PAPP-A2), a key regulator in the insulin-like growth factor 1 (IGF-I) axis.Case Presentation: A 5-year-old girl...

Introduction: Optimal height during pediatric and adolescent growth is a significant factor affecting a child's self-esteem and future outcomes. Aromatase Inhibitors such as Anastrozole are utilized to enhance final adult height in peripubertal boys by impeding the conversion of androgens to estrogens, a critical process in growth plate closure. However, concerns have been raised about the potential adverse effect of aromatase inhibitors on bone health, a...

Background: Atypical genitalia represents an important medical and social emergency. Lack of training in Pediatric Endocrinology and restricted access to Pediatric Endocrinologists makes developing tools for point-of-care guidance for children with atypical genitalia desirable.Objective: To develop and validate a point-of-care mobile application to guide the assessment of children with atypical genitalia.<p class="ab...

Background: Lately, pediatric gender services have been confronted with a steep and unexplained increase of transgender and gender diverse (TGD) youngsters seeking psychological support and eventually medical care. We report on the evolution of referrals to our clinic for first psychological assessment and the rates of medical transition.Methods: The whole cohort of youngsters undergoing a first psychological intake betw...

Context: Acute or chronic metabolic derangement after solid organ transplantation (SOT) can result in endocrine complications. As survival rates following SOT have significantly increased, the occurrence of endocrine complications has also risen.Objective: This study was performed to investigate long-term endocrine complications after SOT in children and adolescents.Methods: This s...

Introduction: Germline variants of WT1 are known to generate kidney and gonadal diseases, including differences in sex development (DSD), chronic kidney disease and early kidney and gonadal tumors. However, the state of gonadal function, its evolution over time, and the impact of WT1 disease on puberty and fertility in this population have never been studied.Methods: GONADVENIR is a French national, retrospective, observ...

Background: Beckwith-Wiedemann syndrome (BWS) is a representative imprinting disorder with characteristic clinical features such as overgrowth, macroglossia, and abdominal wall defects. The BWS-responsible imprinted region is on chromosome 11p15.5. The CpGs within the H19/IGF2:IG-differentially methylated region (H19 -DMR) at the 11p15.5 imprinted region are maternally unmethylated and paternally methylated, and the H19- DMR function...

Background: Childhood hematologic malignancies are no longer a death sentence. With survival rates significantly increasing, focus needs to shift towards diminishing long-term adverse effects, such as bone disorders. In childhood hematologic cancer survivors (CHCS), peak bone mass is not usually attained due to malginancy-related inflammation, treatments employed or subsequent endocrine complications. Thus, low BMD is frequent. However, in the absence of fragi...

Background: Central precocious puberty (CPP) manifests through the activation of the hypothalamic-pituitary-gonadal axis before the age of 8 in girls and is increasing worldwide, but its causes and prevention methods remain mostly unclear. Premature thelarche (PT) is a benign condition but needs to be differentiated from CPP.Objective: To investigate the microRNA (miRNA) expression profiles in CPP and distinguish it from...

Background: Resistance to thyroid hormone (RTHβ) is a rare disease caused by an inactivating mutation in the thyroid hormone receptor beta gene (THRB). This condition leads to elevated thyroid hormone levels with non-suppressed TSH levels. The clinical phenotype is highly variable, ranging from asymptomatic to signs of hyperthyroidism and/or hypothyroidism. This study analysed the genotype and phenotype of paediatric and adult patients followed in three B...

Introduction: Sex chromosome abnormalities (SCAs) are genetic conditions characterized by deviations in the number or structure of the sex chromosomes, present in 1 in 400 newborns. Despite their clinical significance, many patients with SCAs are diagnosed late in life or remain undiagnosed, leading to delayed or inadequate medical intervention. Karyotyping, the gold standard for diagnosis, is unsuitable for population-based newborn screening, as it is time-co...

Background: Familial Mediterranean Fever (FMF) is the most common hereditary periodic fever syndrome in Turkey. The effects of FMF on growth and puberty characteristics have yet to be investigated. This study aims to describe the features of children with FMF in terms of growth and puberty and compare them with healthy children.Methods: This retrospective study analyzed the clinical and laboratory records of 140 FMF-diag...

Introduction: This article aims to compare the influence of maternal and paternal metabolic syndrome on their children and investigate whether the impacts vary based on the child’s gender.Method: This is a retrospective, cross-sectional study involving 5,245 Korean children and adolescents aged between 10 and 19 years. Clinical information of the participants and their parents was collected from the Korean National...

Introduction: PWS is a congenital hypothalamic disorder characterized by short stature and obesity due to hyperphagia. Early growth hormone therapy (GHT) has been shown to positively alter the phenotype of the disease and improve final height, BMI, body composition, and metabolic parameters. The aim of this study was to analyze the course of BMI and body composition during the first year after cessation of GHT. Methods: ...

Objective: Determining the cause of early obesity in children is of paramount importance for early and efficient treatment, including novel targeted pharmaceutical treatment options (e.g. MCR4 agonist). Here, we report findings from diagnostic whole exome sequencing of children with obesity, identifying genetic variants both within and outside the leptin-melanocortin pathway associated with obesity. These findings provide valuable insights for informe...

Background: Hereditary hypophosphatemia (HH) are rare diseases, characterized by excessive renal phosphate wasting.Aim: The study aims to describe the burden of disease across age groups in individuals with HH.Methods: The case population was identified in the Danish National Patient Register (DNPR) from 1977 to 2019 based on relevant diagnosis codes. A journal audit was performed ...

Background: Klinefelter syndrome (47,XXY; KS) influences neurodevelopment, resulting in a neurocognitive profile with a more pronounced impact on verbal IQ compared to performance IQ. Additionally, KS is linked to changes in the epigenome and transcriptome. The relation between these epigenetic and genetic changes and the neurocognitive phenotype has yet to be determined.Methods: We conducted a comprehensive and integrat...

Background: Minipuberty is considered an essential period for early diagnosis of endocrine disorders and reproductive organ maturation. While the complex dynamics of female reproductive hormones during minipuberty was recently described, detailed evaluation of ovarian and uterine morphology in relation to circulating levels of reproductive hormones remains to be elucidated.Aim: Report normative values of ovarian and uter...

Introduction: Vosoritide is licensed by EMA for the treatment of children with achondroplasia above 4 months of age in 2023 (initial approval for children above 2 years in 2021). The CNP analogue modulates enchondral bone growth and improves growth velocity. Response to therapy varies between individuals. Nineteen European centers enter auxological and diagnosis-specific data into the achondroplasia module of the CrescNet® registry to monitor treatment. We...