ESPE Abstracts

Background: The contribution of intrauterine growth restriction (IUGR) and parental height (PH) to childhood short stature is difficult to determine in countries, including the UK, where birth length (BL) is not routinely measured, while accurate PH may become unavailable due to separation/divorce. A previous study (2008–2009) examined the feasibility of BL and PH measurement in the lightest 9% of babies born in a single maternity unit. Uptake was disappointing, with part...

Introduction: Turner syndrome (TS) is a genetic condition with different phenotypic expressions depending on karyotype. Due to genetic prenatal testing, its prevalence is getting lower. The objective was to analyze the presence of different comorbidities associated with TS according to the karyotype and evaluate if there is follow-up in adulthood.Methods: Descriptive retrospective study including all the patients genetic...

Background: Hypogonadotropic hypogonadism is characterised by inadequate secretion of gonadotropins (luteinising hormone (LH) and follicle-stimulating hormone (FSH)) leading to absent, partial or arrested puberty. In males, classical treatment with testosterone promotes virilisation but does not facilitate testicular growth and spermatogenesis. Conversely, treatment with gonadotropins or gonadotropin-releasing hormone (GnRH) stimulates Sertoli and Leydig cells...

Introduction: Prader–Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. Clinical picture of PWS changes across life stages. PWS is characterized by endocrine abnormalities, such as growth hormone (GH) deficiency, obesity, central adrenal insufficiency, hypothyroidism, hypogonadism, and complex behavioural and intellectual difficulties. The recombinant human growt...

Introduction: Coffin-Siris Syndrome (CSS) is a rare multisystem genetic disorder which arises from genetic abnormalities within genes encoding for the SWI/SNF complex (ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCA2, SMARCE1). Endocrinopathies have been associated with CSS, including idiopathic short stature, hyperinsulinism, obesity, growth hormone deficiency, and cryptorchidism. Here, we describe the endocrine features of a series of children with S...

Background: This study aims to describe the predictive factors of severe obesity in children followed in French Guiana.Methods: In this observational study, the patients from the French Guianese Childhood Obesity Group database were prospectively included, after giving a statement of patient’s non opposition.Results: Our group classifications revealed that 36 of 150 (24%) participants were classified as being ...

Background: Skeletal muscle is the largest tissue involved in the insulin-stimulated disposal of glucose, with its size being controlled by hormonal status, among other factors. Leptin plays a primary role in the regulation of glucose homeostasis with a substantial degree of insulin and leptin cross-talk in muscle. However, the relationship between the leptin’s central effects on insulin sensitivity in muscle and associated structural changes remain unclear.<p class="...

The physiology of adrenarche, i.e. the development of the zona reticularis of the adrenal cortex, is mostly unknow. Some genes of steroidogenic enzymes need to be down- (HSD3B2) while others upregulated (e.g. CYB5) to enhance androgen production in zona reticularis, but it is not known how this is regulated. Micro RNAs (miRNAs) are small non-coding RNAs that can affect gene expression at posttranscriptional level. We hypothesized that miRNAs might be involved in regulating adr...

Rationale: Bronchopulmonary dysplasia (BPD) is a common complication after preterm birth that is associated with neurodevelopmental impairment. Neurofilament light chain (NfL) has been identified as a biomarker for neuroaxonal damage in preterm infants, but its relation with BPD has not yet been established. We hypothesized that BPD is associated with increased NfL levels at an early stage, indicative of early neuroaxonal damage....

Introduction: Short stature is a frequent reason for consultation in the paediatric age group. After appropriate clinical, radiological and laboratory evaluation, up to 60-80% of children are classified as idiopathic short stature (ISS) because no underlying cause can be found. Nowadays, the spreading of molecular is revealing that many of the patients initially classified as TBI, have variants in genes involved in the growth plate development. IHH gene is inv...