Endocrine Abstracts

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is rare and caused by mutations in the steroidogenic acute regulatory (STAR) gene, which is involved in a key step in the synthesis of pregnenolone from cholesterol. Cases typically present in the first days of life with severe adrenal crisis, salt wasting and severely disrupted androgen secretion which may result in sex reversal in 46, XY individuals.Case report: We present a 21-month-o...

Background: Accurate evaluation of growth is a key assessment of child health, in the UK use of a paper growth chart is currently standard practice. Our trust had a drive to become paper light thus there needed to be a way to store growth data electronically. Growth data is often incompletely documented. A previous review of children’s outpatient attendances at our hospital found that across medical, surgical and tertiary specialties only 33% of children had growth data d...

Background: Children with undiagnosed coeliac disease are at risk of low bone mineral density (BMD), but whether this translates to fracture predisposition is unclear. In adults with coeliac disease anti-osteoprotegerin (anti-OPG) antibodies have been identified. OPG inhibits RANK ligand activation of osteoclastic bone resorption, and thus anti-OPG antibodies promote bone loss. We report a case of osteoporosis with elevated anti-OPG antibodies in a child with coeliac disease.<...

Introduction: Exposure to deficient/excess glucocorticoids can lead to long-term health problems in patients with adrenal insufficiency. Historically and age-appropriate hydrocortisone formulation has not been available. Adrenal crisis is associated with significant morbidity and mortality.Aims: To assess prescribing practice for oral hydrocortisone and sick day advise across the UK.Methods: Paediatric endocrinologists and parents[...

Background: Children who are overweight and obese have a higher incidence of fracture, but it is unknown if this varies by fracture site. Indeed, obesity in adult women protects against forearm fracture, but increases the risk of humeral fractures. We aimed to determine if adiposity differed by fracture site in children with upper limb fractures.Methods: Children aged 3–18 years were recruited within 60 days of fracture. Height, weight, waist circum...

Introduction: Adrenal insufficiency is rare in the neonatal period and if unrecognised may cause life-threatening circulatory collapse. The initial investigations taken at the time of presentation, and prior to the institution of hydrocortisone, are a key step in the diagnostic pathway, and aid the clinician to distinguish adrenal insufficiency from mineralocorticoid resistance or renal tubulopathy. A cortisol measurement at the time of illness is useful to evaluate the adrena...

Background: Temple syndrome (TS) is a disorder caused by dysregulation of imprinted genes at chromosome 14q32. It is important to distinguish the growth pattern from other imprinting disorders such as Russell–Silver and Prader–Willi syndromes.Aims: To describe the growth pattern in TS.Methods: 51 cases were identified from 11 countries. Height, weight, birth weight and head circumference were converted to SDS using countr...

Background: Osteoporosis and increased fracture risk associated with cystic fibrosis (CF) are becoming more relevant with improved life expectancy in this disease. The evolution of CF-related bone disease remains unclear.Aims: To evaluate change in bone mineral density (BMD) in individuals with CF from age 10 to 30 y.Methods: Data from the UK CF Trust registry, which contains anonymised clinical information, was used to evaluate BM...

Background: Glucocorticoids are frequently used to treat childhood inflammatory disorders, and may cause increased fracture predisposition with reduced bone mineral density (BMD), particularly from trabecular bone loss. The contribution of the underlying inflammatory disease processes to these outcomes is poorly understood. Childhood nephrotic syndrome (NS) is a useful model to investigate the effects of steroids on bone, as recurrent courses are often required, but systemic i...

Background: Unrecognised type I diabetes (TIDM) can have serious consequences which may be avoidable with early diagnosis. Many children have delayed diagnosis, however contributing factors are unclear.Aims: To evaluate the patient pathway before diagnosis and initial hospital management of children with TIDM.Methods: Over a 3-month period, parents of children newly diagnosed with TIDM across the UK completed a questionnaire. Addit...