ESPE Abstracts

Background: Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disorder caused by NF1 mutation. The condition is typified by the development of benign and malignant tumours in both the central nervous system and peripheral tissues. We present two siblings diagnosed with NF1 who presented at an early age with isolated menarche.Case Presentation: Sibling 1 – A 7-year-old patient w...

Introduction: Resistance to thyroid hormone (RTH) is a relatively uncommon disorder that is usually associated with mutations in thyroid hormone receptor (THR) beta, although rarely THR alpha mutations have been described. RTH beta (RTHB) is often inherited in an autosomal dominant pattern. We describe two cases of RTHB to highlight the significant variations in both clinical presentation and family history.Case 1: A 2 year old patient ...

Background: GH treatment for ISS received first approval in the USA in 2003 based on data from two controlled clinical trials. Eligibility is restricted to those with baseline (BL) height standard deviation score (HtSDS) ≤−2.25; other approvals followed, but not in Europe.Objective and hypotheses: To assess outcomes of GH therapy in a large cohort of patients (pts) treated in routine clinical practice.Methods: Short-ter...

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

Introduction: Diabetic retinopathy is a leading microvascular complication and preventable cause of vision loss. NHS diabetes eye screening program (DESP) assesses for early signs, with population prevalence between 3.5% and 24.2%. Understanding the factors involved is important to reduce morbidity.Aims and objectives: Establish clinical characteristics and modifiable risk factors for patients with retinopathy identified...

Introduction: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders characterized by hypoglycemia and inappropriate insulin secretion. Prompt identification of CHI and its genetic causes are essential to minimize the risk of permanent neurological damage as well as guide treatment options for these patients. Although, there are 15 known monogenic forms of CHI, there remain 50% of patients without an identified genetic diagnosis, suggesting tha...

Background: Sickle cell anemia (SCA) leads to chronic end organ damage including the thyroid gland. This is postulated to be due to recurrent hemolysis leading to iron overload, vaso-occlusive crises, micro-vasculature obstruction due to red cell entrapment and frequent transfusions. Some studies have demonstrated a relationship between hypothyroidism and SCA with a prevalence of 6% in children and adolescents. Hypothyroidism may affect brain and physical deve...

Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by genetic deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA) primarily in the adrenal cortex and central nervous system. Approximately 35–40% of boys with ALD develop cerebral ALD (CALD), which causes rapidly progressive cerebral demyelination, loss of neurologic function, and death. Disease progress can be halted by allogeneic hematopoietic cell trans...

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...

Introduction: Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that could be associated with embryonal tumours. Genotype based categorisation of patients enables better screening strategies. We present a patient with BWS who developed atypical congenital hepatoblastoma and atypical Wilms tumour in infancy.Case Report: A 2 day old infant was referred with recurrent hypoglycaemia and high intravenous glucose requirement [>12 mg/kg/min]. He ...