ESPE Abstracts

Background: Congenital hypothyroidism (CHT) may be viewed as a relatively easy condition to diagnose and treat. However, for the parents who are contacted with the neonatal screening results the news can be devastating, and the quality of information provided can be very variable.Objective and hypotheses: We aimed to explore the experience of parents at the time of diagnosis, and ascertain how we could improve this.Methods: In asso...

Background: Despite having a significant impact on patient care and treatment success, nurses’ roles and responsibilities in growth disorder (GD) treatment varies substantially between countries and should be optimised.Objective and hypotheses: To understand the critical role nurses play in patient clinical outcomes and how they can improve the patient management pathway.Methods: Nurses involved in the care of patients with GD...

Introduction: Bardet-Biedl syndrome (BBS) is a rare, pleiotropic, autosomal recessive disorder, with prevalence between 1 in 100,000 – 160,000 in Europe and the USA. It is characterised by 6 cardinal features: rod-cone dystrophy, truncal obesity, cognitive impairment, hypogonadism and genitourinary anomalies, postaxial polydactyly and renal dysfunction, as well as a plethora of secondary features spanning multiple body systems. BBS belongs to a family of ...

Background: In humans GRB10 negatively regulates GH and IGF1 signaling predominantly via altering phosphorylation of PI3K/mTOR/AKT and MEK/ERK pathways which relate to both growth and metabolic function. We have previously shown that Grb10 knockdown in Zebrafish results in overgrowth with an increase in length and head size. However the impact on weight in relation to length has not been assessed.Objective: To develop a model t...

Background and Aim: Metabolic Bone Disease of Prematurity(MBD) is a condition of reduced bone mineral content(BMC) compared to the expected for gestational age(GA). Preterm birth interrupts the physiological process of calcium(Ca) and phosphorus(P) deposition that occurs mostly in the 3rd-trimester of pregnancy, leading to an inadequate bone mineralization during intrauterine life(IUL). After birth, an insufficient intake of Ca and P carries on this alteration...

A 20-year old lady with poorly controlled type 1 diabetes mellitus diagnosed since 9 years old, comorbidities of hyperlipidemia and steatohepatitis as well as a history of smoking, presented with an acute 2-day history of involuntary, writhing movements of her left upper and lower limbs. Physical examination confirmed left mild hemiparesis with hemichorea-athetosis. Emergent MRI brain demonstrated abnormal signal in the right caudate nucleus and lentiform nucleus (low T2W/FLAI...

Background: Access to essential medicines remains suboptimal in Africa. The World Health Organisation (WHO) maintains two non-binding essential medicine lists (EML) (for children and for adults). Individual countries refer to these lists to prepare national EMLs.Objective and hypotheses: To determine which medicines commonly used in pediatric endocrinology and diabetes are included in the WHO and national EMLs in the WHO African region. We hypothesize th...

Background: Prolactinomas are relatively rare during childhood, with an incidence of 0.1 per million. Children with hyperprolactinaemia have widely varied presentations depending on age, sex, and tumour size. Whilst adults typically present with galactorrhoea or hypogonadism, children tend to present with pubertal delay and growth issues.Objective and hypotheses: Poorer surgical outcomes have been reported in children with macroprolactinomas compared to ...

Background: Congenital multiple pituitary hormone deficiency (MPHD) arises from defects in pituitary development and is sometimes associated with craniofacial abnormalities. Mutations in the transcription factor PROP1 are the most common known genetic cause of the disorder. In this case the course of disease is progressive, and can lead to life threatening adrenal insufficiency.Objective and hypotheses: Our objective is to understand the role of PROP1 in...

Background: Bone age studies require X-ray of the left hand and wrist to assess skeletal maturity. The Tanner-Whitehouse 3 (TW3) scoring method provides an objective framework for calculating bone age and specifies exact placement of the hand. In our service we have noted a number of poor quality films, caused by difficulty with hand placement, e.g. scrunching of the fingers. This compromises the ability to score accurately and in a proportion necessitates re-X-ray, with time,...