ESPE Abstracts

Introduction: Thyroid nodules are uncommon in the paediatric population, present in 5% of children but 35% of adults. However, up to 25% of paediatric nodules are malignant, compared to 5% in adults. It can be challenging to differentiate malignant nodularity from benign clinically, particularly in the presence of a thyroid disorder. We present two contrasting cases of adolescent girls with solitary thyroid nodules.Case 1: A 13-year-old girl was referred...

Background: Turner syndrome (TS) is classically a sporadic cause of short stature and gonadal dysgenesis in girls. We report familial variant TS affecting twelve individuals of both sexes over three generations. Affected children manifest short stature and varying degrees of neurodevelopmental disorder but no visceral abnormalities.Case presentation: A 27-year-old female in her 12th pregnancy presented for 20-week ultrasound. Fetal cardiac and...

Context: The majority of congenital isolated growth hormone deficiency (IGHD) cases are idiopathic.Recent research has shed light on the genetic aetiologies of congenital hypopituitarism. HESX1 and GLI2 are two transcription factors, amongst a cascade of other transcription factors and signalling molecules, involved in the development of the pituitary gland. Mutations in both genes have been shown to cause congenital hypopituitarism with varying phenotypes.</p...

Aim: To highlight the importance of tangential thinking in unusual clinical presentations, and tracking of family history with emergence of index case.Methods: A case review of three siblings presenting with varied symptoms and diagnosis to the different speciality clinic and noted to have Hypocalcaemia.Results: 14 year old boy, diagnosed at age of 3 years with Duchenne’s muscular dystrophy (DMD), confirmed with identification...

Background: Globally approximately 8%1 of children have type 1 diabetes mellitus (TIDM) with an incidence of 24.5 in every 100 000 children (0–14 years)2. TIDM is an autoimmune condition causing the destruction of beta islet cells and is associated with other autoimmune conditions such as coeliac disease (10% of children with TIDM test are positive for TTG) and hypothyroidism (25% have thyroid autoantibodies). We would like to report a case series of...

Objective: MRI is the modality of choice to evaluate morphology of hypothalamic pituitary axis (HPA) and associated endocrinopathies. In the paediatric population it presents a diagnostic challenge because of small size and varied disease processes. We undertook a retrospective study to determine the pitfalls in reporting of pituitary imaging.Methods: Evaluation of pituitary MRI scans in 18 patients. We sought a second opinion from a paediatric neuro-rad...