ESPE Abstracts

Introduction: The Newborn Screening Programme (NBS) enables earlier diagnosis of congenital hypothyroidism (CH). However, cases of central congenital hypothyroidism (CCH) are missed in countries which use thyroid stimulating hormone (TSH) based screening strategy. Understanding the pathogenic aetiology of CCH is particularly important because many patients have additional pituitary hormone deficiencies. New genes have been implicated in CCH, including the rece...

Introduction: There is considerable variation in practice when assessing adrenal function in adrenal insufficiency; duration of glucocorticoid defined to confer risk, early morning cortisol assay (EMC), Synacthen test (ST) - both low dose (LDST) (1microgram) or standard dose (SDST) (36microgram/kg [maximum 250micrograms]) and symptomatology. At our tertiary children’s hospital, even between departments, there is variation in those identified as being at ...

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Introduction: Osteonecrosis can be a debilitating consequence of treatment for acute lymphoblastic leukaemia (ALL), most commonly affecting patients aged between 10 and 20 years at diagnosis of malignancy. Patients may have asymptomatic lesions that spontaneously regress, and little is known about the natural history of lesions. There is also limited understanding of the relationship between osteonecrosis and other markers of bone health.Aims: The aims o...

Background: Magnetic resonance imaging (MRI) is advisable in all patients with GH deficiency (GHD). MRI pituitary morphology has important clinical implications, both in terms of diagnostic accuracy and long-term prognosis; indeed, when MRI findings are appropriately interpreted, they clearly represent a gold standard to investigate the etiology of GHD.Objective and hypotheses: To evaluate frequency and type of MRI anomalies in children with GHD, after d...

Introduction: An important part of diabetes management is maintaining high standards of in-patient care. A previous audit in the South of England demonstrated difficulties consistently achieving standards identified as good practice.Objectives: To identify variations in in-patient care provided to children with type 1 diabetes across the Yorkshire and Humber region.Methods: The audit was conducted against in-patient care standards ...

Introduction: DEND syndrome is severe form of neonatal diabetes mellitus characterized by triad of developmental delay, epilepsy and neonatal diabetes. It is caused by mutations in the K-ATP channel encoded by KCNJ11 or SUR1 sulphonyl urea receptor 1 encoded by ABCC8 gene. Its Incidence is <1/1000,000 and until now very few cases have been reported worldwide. There is intermediate DEND syndrome (iDEND), this is less severe condition in which there is neonat...

Introduction: CAH (congenital adrenal hyperplasia) is the most common cause of ambiguous genitalia among girls. 21 Hydroxylase deficiency is the most common type of CAH. If the CAH girls have early intervention and they have started early treatment then they will achieve normal puberty. IF CAH girls have started treatment later in the life then they will present either with precocious puberty or delayed puberty.Methodology:</stro...

Objectives: Vosoritide is a C-type natriuretic peptide analog which binds its receptor on chondrocytes, leading to increased chondrocyte proliferation and differentiation via its inhibition of the ERK1/2-MAPK pathway. It was recently approved for increasing linear growth in children with achondroplasia. This is the first study to examine the safety and efficacy of vosoritide in children with hypochondroplasia.Methods: Th...

Background: Congenital hypothyroidism is a common condition with reported incidence between 1/2000 – 1/4000 live births. In approximately 85% of cases this is sporadic due to a structural abnormality of the thyroid gland. Approximately 15% of cases are hereditary and secondary to thyroid dyshormonogenesis. Most of these are due to mutations in one of the genes involved in iodine transport or organification, mutations in the thyroglobulin gene or d...