ESPE Abstracts

Background: In adults it has been shown, that GHmax values after provocation testing are negatively correlated to BMI. Preliminary studies in children have found a similar correlation. Consequently children with elevated BMI would be overdiagnosed with GHD. However, studies so far were too small to define this correlation exactly. This would be a condition to judge whether and to what extend adjustments of GH cut-off levels should be considered also in children with elevated B...

Objective and hypotheses: To describe the morphological characteristics of patients with Prader-Willi Syndrome (SPW) who have been followed in a Pediatric Endocrinology Outpatient Clinic.Method: We performed a retrospective study on 51 patients evaluating the age of diagnosis, genetic mutation, use of GH (rhGH), age of beginning of follow-up, and z-score of weight, height and BMI. Data on their first and latest visit to our clinic were compared....

Background: Individuals with congenital adrenal hyperplasia (CAH), a form of adrenal insufficiency, are exposed to daily non-physiologic, non-circadian cortisol profiles due to both the disease and therapeutic limitations. Dysfunction in the hypothalamic-pituitary-adrenal axis is strongly associated with depressive disorders. However, little is known about the prevalence of depression among children and young adults with CAH. We investigated the prevalence of ...

Background: The COVID-19 pandemic has resulted in rapid implementation of tele-clinics; patients have frequently missed routine point-of-care HbA1c testing, vital for evaluating long-term glycaemic control. We evaluated the feasibility of remote HbA1c monitoring via self-collection of capillary blood samples at home, and examined clinical characteristics associated with engagement with this system.Methods: Bio-Rad Haemog...

Introduction: The molecular aetiology of familial glucocorticoid deficiency (FGD) is very heterogeneous. A recent report of a genetic variant in TXNRD2, the gene encoding thioredoxin reductase Type 2, in a South Asian kindred with FGD suggests that the maintenance of redox balance may be critical for adrenocortical function. We present the second report of an individual from another south Asian family harbouring a different pathological variant in <em...

Introduction: Recent studies point to the existence of androgen-responsive non-coding (nc) RNAs in peripheral blood mononuclear cells (PBMC) RNA.Aim: To quantify the androgen-responsive gene expression of SNORD5 and RNY5 and investigate their relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: 19 bo...

Introduction: The external masculinisation score (EMS) has been utilised as an objective numerical description of the external genitalia in undermasculinised patients with DSD in several studies. However, data on longitudinal change in EMS in the routine clinical setting are lacking.Objectives: To determine the longitudinal change in EMS and its determinants in a cohort of boys with XY DSD in one specialist centre.<p...

Introduction: Among Disorders of Sex Development (DSDs), XY DSD, represents the most challenging group in terms of identifying a diagnosis.Objectives: The aim of the study was to determine the prevalence of biochemical and molecular genetic tests in a cohort of boys with XY DSD and to collate the phenotypes of patients with results of laboratory investigations and presence of associated abnormalities.Methods: New and existing cases...

Background: Disorders of sex development (DSD) due to mutations in the NR5A1 (SF1) gene result in a highly variable phenotype.Objective: To report the clinical phenotype and the molecular/structural characteristics of the gene-protein product arising from three novel mutations of the NR5A1 (SF1) gene found in patients presenting with 46,XY DSD.Method: Phenotype determined from interrogation of clinical case notes. Interpre...

Background: Obstructive sleep apnea syndrome (OSAS) in children is a common medical disorder, often associated with adenoid and tonsil hypertrophy. The prevalence of OSAS has been increasing due to alarming rates of obesity in childhood. This is a very concerning subject since there is a higher risk of cardiovascular outcomes in patients with elevated BMI and OSAS.Objective and hypotheses: The aim of this study is to report a hazardous case regarding chi...