ESPE Abstracts

Background: Otological problems in Turner syndrome (TS) are notoriously common and troublesome, often requiring intervention with adeno-tonsillectomy, insertion of ventilation tubes and occasionally resulting in serious disease such as cholesteatoma.Survey of otological problems in the West of Scotland: A case note review of 174 girls attending the Turner clinic in Glasgow, Scotland from 1989–2015 found that of 155 patients in whom data were availab...

Background: Girls with Turner syndrome (TS) are inappropriately short for their parents’ heights; measured parental height is therefore useful in diagnosis.Objective and hypotheses: To examine the sensitivity of measured parental height in the diagnosis of TS; and to audit the frequency of parental height measurement in our clinic.Method: Case note review of all girls with TS attending our dedicated Turner clinic between 1989&...

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...

Background and Aim: Pediatric patients with germline mutations in the phosphatase and tensin homolog (Pten) gene frequently develop aberrant adipose tissue growth called lipomas. In severe cases, recurrent lipoma formation can have adverse effects on organ function and quality of life. Due to the lack of understanding the basis of lipoma development, no systemic treatment options are available. We therefore aimed to characterize an already described lipoma bea...