ESPE Abstracts

Background: Fetal skeletal bone development and mineralisation depends on placental calcium transfer. Although Parathyroid Hormone (PTH) pathway has some contribution, TRPV6 (the sixth member of the Transient Receptor Potential Vanilloid family) is a recently identified receptor involved in calcium transport and is predominantly expressed in the placenta. It has not previously been linked with skeletal development disorders.Case: This infant had...

Skeletal dysplasias are conditions in which there is an abnormality of bone and/or cartilage growth, which may show phenotypic evolution throughout life. They are genetically and radiologically heterogeneous, with accurate diagnosis requiring careful correlation of clinical, genetic and radiological information. Presentation may be with unexplained short stature, and this, in the presence of disproportion is the most common indication for a skeletal survey within paediatric en...

Abnormal bone development is commonly seen in children with chronic disease. However, fragility fractures in the young individual may be less common compared to older adults, which may be due to under recognition. The underlying chronic condition and medication can impact on bone turnover, modelling, bone mineral homeostasis, growth, pubertal development and muscle mass. The diagnosis and management of osteoporosis in children and adolescents with chronic disease remains conte...

Introduction: The Royal College of Paediatrics and Child Health state that adolescents with significant obesity require access to evidence-based weight management services (WMS). Due to the known benefits of exercise and physical activity (PA) on physiological and psychological outcomes increasing exercise and PA should form a cornerstone of any WMS for adolescents living with obesity. However, supervised exercise interventions face challenges within a clinica...

Background: Adrenal insufficiency (AI) is a rare disorder in the paediatric population. Patients are at risk of an adrenal crisis (AC), which comprises hypotension, acute abdominal symptoms, reduced consciousness, hypoglycaemia, hyperkalaemia and hyponatremia. Immediate administration of parenteral hydrocortisone is essential to prevent AC progression but delays may occur when health attendants are unaware of the underlying AI diagnosis. Medical jewellery is a...

Background: Pubertal induction with incremental doses of oestrogen replacement is an important component of care offered to hypogonadal patients with Turner Syndrome (TS). Low dose oral ethinylestradiol (EE) has been extensively used in the UK but natural 17-β oestradiol (more physiological, cheaper and easily monitored in blood) is becoming increasingly popular.We undertook this audit to compare the efficacy and acceptability of...

Introduction: Tyrosinaemia type 1 (TT1) is a rare autosomal recessively inherited disorder of tyrosine metabolism leading to accumulation of tyrosine and its metabolites in liver, kidney and central nervous system. TT1 is a heterogeneous disorder with a broad spectrum of clinical manifestations. Hypoglycaemia is common, especially in the acute phase of the disease due to liver failure and reduced hepatic clearance of insulin. However, confirmed cases of hyperi...

Introduction: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple epigenetic/genetic changes affecting imprinted genes in 11p15.5 region. Phenotypic expression is variable. Hyperinsulinaemic hypoglycaemia is common (30-60%). Persistent, severe, refractory cases are usually associated with 11p15 paternal uniparental disomy, particularly the rare context of a coexisting paternal inactivating KATP channel variant. Those c...

Introduction: Noonan Syndrome (NS) is an autosomal dominant condition that affects 1 in 1000 to 2500 live births and is associated with short stature. Studies have shown that height velocity (HV) improved significantly with the use of growth hormone (GH) in the first year of treatment and sustained for the second year. We aimed to look at the effects of GH therapy in our cohort of patients with NS.Method: In this retrosp...

Background: Steroidogenic factor 1 (encoded by the NR5A1 gene) is a transcriptional regulator of genes involved in gonadal development and steroidogenesis. Mutations in NR5A1 are associated with a wide phenotypic spectrum in 46,XY individuals ranging from partial/complete gonadal dysgenesis or anorchia, ambiguous genitalia, hypospadias, to infertility. However, little is known about the longitudinal course of endocrine markers for Sertoli and Leydig cell func...