ESPE Abstracts

Neonatal diabetes is defined by hyperglycemia either isolated or as a part of a syndrome, diagnosed within the first 6 months of life. This is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic β-cell. To date, over 20 genes have been identified in about 60–75% of cases. A significant breakthrough was the recognition that a large portion of patients can b...

Background/Objective: 17bHSD3D is a rare genetic disorder that leads to disorders of sex development (DSD) in 46,XY patients. Phenotype at birth ranges from unsuspicious female genitalia to micropenises. Besides molecular genetic testing no reliable lab parameters have been established for pre-identifying patients through basal steroid-levels or hCG-testing. This bares the risk of under-, mis- or late diagnosis. Further, little research has been performed on psychological well...

Introduction: The prevalence of childhood obesity is increasing worldwide, and the management remains a challenge. The mainstay of management is lifestyle modification but if this is not successful, pharmacological agents are considered although the options in children and young people are quite limited. Metformin has been used as an adjunct therapy alongside lifestyle modification in children and young people with obesity. Some studies have shown it to be eff...

Background: GH treatment has been used for the last 30 years for children with short stature with varying individual responses.Objective: Analysis of final height SDS (standard deviation score) and the factors influencing it in children treated with growth hormone.Material and methods: Subjects across Wales who received GH treatment, part supervised by tertiary center staff and reached final height while on treatment, were identifi...

Introduction: The BSPED Peer review programme was developed to provide a regular cycle of independent impartial professional assessment, against agreed quality standards for Specialised Paediatric Endocrine Services (SPES) in the UK.1 The aim is to continuously promote best quality of care for children and young people with endocrine disorders requiring National Health Service treatment at a SPES. We present here an evaluation of the process during this first revie...

Background: Thyroid disorders in the neonatal period can have serious consequences for growth and development. Neonatal bloodspot screening identifies congenital hypothyroidism. Current guidelines both internationally and in tertiary centres in Ireland have moved towards checking thyroid function tests (TFTs) solely in infants of mothers with hyperthyroidism and those identified on neonatal bloodspot screening. The practice in OLOLH, Ireland was that all infants of mothers wit...

Background: In children with Prader–Willi Syndrome (PWS), hypothalamic dysfunction plays a key role in the development of aberrant energy regulation, sleep-related breathing disorders, hypogonadism and impaired linear growth. Dysfunction of the hypothalamic–pituitary–adrenal (HPA) axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Method: Thirty-one (10M/21...

Background: The classical presentation of type 1 diabetes mellitus is as diabetic ketoacidosis. As health awareness and access to healthcare improves, more subjects with type 1 diabetes are diagnosed early and present with less severe forms of hyperglycaemia. India accounts for most of the children with type 1 diabetes in South East Asia, but studies on the initial presentation is lacking from India.Objective and hypotheses: The aim of the study was to a...

Background: Heterozygous loss-of-function HNF4A mutations are known to lead to monogenic diabetes, and in infants to macrosomia and hyperinsulinemic hypoglycemia. We are reporting a patient with a heterozygous HNF4A mutation (c.997C>T p.ARG333Cys) presenting with persistent ketotic hypoglycemia.Case report: In a 38 weeks’ gestation infant (birth weight 4.1 kg, pregnancy complicated by insulin-requiring gestational diabetes), hy...

Background: The optimal method to assess GH status remains controversial. GH provocation tests are used and the Insulin Tolerance Test (ITT) is regarded as the ‘gold standard’ to diagnose GH deficiency (GHD). The original selection of 0, 20, 30, 60, 90 and 120 min time points is still used in many protocols worldwide, but variations have evolved.Objective and hypotheses: Comparing standard ITT (StdITT) to a revised (RevITT) protocol.<p clas...