ESPE Abstracts

Background: Small for gestational age (SGA) children have reportedly increased DHEAS levels during prepubertal years. However, steroid hormones have not been followed longitudinally in a healthy population compared to body composition.Aims and objectives: To evaluate steroid hormone patterns in prepubertal children correlated to visceral fat measures.Methods: Body composition was investigated with magnetic resonance (MR) of truncal...

Background: The variation in uptake of daily sc GH-injections is hardly known.Objective and hypotheses: There is a considerable variability in uptake of s.c. GH-injections both within and between children.Method: 65 children used (Genotropin® pen 4/16, needle 12 mm), dose 0.08–0.14 mU/kg per day within trials: TRN 87–010; 88–080; 88–177; followed yearly two–eight times 1992–1999 (n=214). ...

The present study aimed to determine the mutational and molecular landscape of a 17 mm insulinoma from a fifteen-year-old male. Using targeted exome sequencing and microarray, we investigated somatic candidates in the insulinoma. The microarray analysis was conducted using 12 other insulinomas as a control group and revealed a total of 1907 differentially expressed genes (P-value < 0.05, FDR P-value < 0.05). After thorough gene variant filtering, we ide...

Introduction: Rare mutations of the ESR1gene, encoding the estrogen receptor alpha (ERα), have been shown to cause estrogen resistance in humans. To date, there are no effective therapeutic options. We report the case of a new inactivating mutation of ERα and provide evidence for a partial restoration of biological effects of estrogen.Methods: We performed clinical and biological phenotyping of the index case and sequenced the ESR1...

Background: The management of MEN1 in CYP<19 years is challenging due to its rarity, and diverse presentations of its component tumours to several adult and paediatric medical and surgical specialists. There is little high quality evidence for treatment recommendations.Aim: To ensure age- and tumour-specific paediatric and adult teams are involved in co-ordinated discussions to improve high quality care and hence survival and reduce long term morbidi...

Context: Alkindi® (Hydrocortisone Granules, Diurnal Ltd, UK), was recently licensed for oral administration to children with adrenal insufficiency (AI) from birth to 18 years. Previously, children received compounded hydrocortisone to achieve age appropriate dosing, however almost 25% of batches were out of specification for mass and content uniformity and clinically evident under- and over-dosing was reported.Objectives: Primary: long-te...

Background: Craniopharyngiomas are the commonest pituitary tumours of childhood. Though benign histologically, their localisation and invasive tendency can cause significant neuroendocrine morbidity and late mortality.Objective and hypotheses: To prospectively determine risk factors for neuroendocrine morbidity by longitudinal survival analysis.Method: All children with craniopharyngioma newly presenting to our quaternary centre be...

Context: The mouse ERα−/− knock-out model and rare human ESR1 gene mutations identified to date have demonstrated crucial role of ERα in control of energy homeostasis and glucose metabolism. Subjects with ERα deficiency show features of estrogen resistance (ESTRR) with continuous linear growth in adulthood.Patient: We describe a 20-year-old female, with unknown family history, who presented...

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...

Background: Individuals with the ultra-rare genetic disorder FOP experience progressive heterotopic ossification. Median age at diagnosis is 5 years; patients are supported by multiple specialties. Most patients become immobilised by the third decade of life, requiring lifelong assistance. We characterise AADA use as an indicator of disease severity in younger individuals with FOP enrolled in a 36-month, prospective, global NHS (NCT02322255).<p class="abst...