ESPE Abstracts

Background/aim: HD is a life-threatening, but under-reported, disorder without accepted diagnostic criteria. We prospectively assessed the prevalence and severity of its 4 domains (sleep, appetite, temperature, thirst) in patients with congenital or acquired disorders, and their impact on quality of life (QoL).Methods: 66 patients (35M/31F) aged 12.4 ± 3.1 years, at risk of HD from tumours (n:36) or congenital maldeve...

Introduction: The UK 100,000 Genomes Project (100KGP) recently investigated the genetic basis of rare disease using whole genome sequencing. The genetic aetiology of most rare paediatric endocrine disease remains unexplained.Methods: Children with genetically unexplained rare endocrine disease attending a subspecialist paediatric endocrinology clinic underwent whole genome sequencing as part of the 100KGP. Parental DNA w...

Background: The incidence of Graves’ disease in patients aged <15 years is estimated at 0.9 per 100,000. Parental anxiety around definitive treatment, timing of this around schooling and clinician confidence in long-term medical treatment often results in prolonged medical management. This audit aimed to assess the rates of remission, timing of definitive treatment and long-term medical management in children managed for Graves’ at a UK tertiary...

Background: Hypopituitarism in children is a complex condition and its hierarchical evolution at different developmental windows is unpredictable. Magnetic resonance imaging (MRI) is helpful but largely a subjective assessment of anomalies of the hypothalamo-pituitary (H-P) structures. We aimed to test the utility of a quantitative measure of pituitary and stalk in predicting neuroendocrine phenotypes.Patients and Methods:</stron...

Background: Hypothalamic dysfunction (HD) is life-threatening but precise diagnostic tools are lacking. Normal hypothalamic anatomy is difficult to delineate on MRI. Damage to the area is inferred from a visible lesion, but how widely it disturbs signalling connections or correlates with symptoms is unclear. Furthermore, in congenital/syndromic diseases the hypothalamus appears normal even in cases with clear HD. We aimed to develop novel clinical and radiolog...

Background and aim: Phenotypes of Hypothalamo-Pituitary (H-P) dysfunction are heterogenous and unpredictable. Through novel neuroimaging segmentation, we quantified anatomical alterations of each discrete component (hypothalamus, stalk, and pituitary) to better elucidate the origin and phenotype of different congenital and acquired HP disorders.Methods: We compared 66 patients (35M/31F) aged 12.4 &pm; 3.1 years, followed...

Background: Hypothalamo-posterior-pituitary (HPP) disorders are complex, life-threatening, and often of uncertain pathogenesis. Oxytocin and AVP/copeptin share production and storage sites, but they are difficult to measure in biological fluids. Correlation with HPP neuroimaging abnormalities has not been previously determined.Aim: To correlate unstimulated plasma copeptin/oxytocin with hypothalamic volumes/PP location i...

Background: The presentation of early-onset Primary Ovarian Insufficiency (EO-POI), most often with primary amenorrhea, is at one end of a spectrum spanning 40 years. The aetiology of POI is frequently unclear but next generation sequencing of varied age groups has identified several associated genetic variants. Whether girls with EO-POI are more likely to have a genetic aetiology than those with later presentations remains unknown.<stro...

Background: ROHHAD syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation) – also defined as ROHHADNET when associated with neural tumors - is a rare condition with a high mortality rate. The aim of this study is to describe the phenotypes of a multicentric cohort of ROHHAD patients.Patients and Methods: We retrospectively analyzed clinical data from 22 patient...

Background: Sequencing of Primary Ovarian Insufficiency (POI) cohorts have identified variants in >100 “POI genes” in up to 50% of women. Establishing pathogenicity of these variants is challenging. Whether early-onset POI (EO-POI; adolescent-onset) has a unique genetic profile remains unknown.Methods: We performed exome sequencing (Nonacus) in an EO-POI cohort (sporadic and familial) and unaffected family...