Endocrine Abstracts

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...

Introduction: Polycystic ovary syndrome (PCOS) has a prevalence of 10–15% and is associated with metabolic and mental health consequences. There is evidence that structured education programmes improve illness perception, quality of life and the metabolic profile in other chronic conditions however evidence for structured patient education in PCOS is lacking.We aimed to use an iterative cycle of research to develop a pragmatic educational interventi...

Methodology: Polycystic ovary syndrome (PCOS) has a variety of signs and symptoms compromising different phenotypic presentations. Insulin resistance is a known association of PCOS. Despite the documented effect of ethnicity on insulin resistance, there is little known about the effect of ethnicity on the clinical presentations of PCOS. We compared the clinical presentations of white and South Asian (SA) women with PCOS.Methodology: Retrospective analysi...

The CYP11B1 and CYP11B2 genes encode the enzymes responsible, respectively, for the terminal stages of cortisol and aldosterone biosynthesis, and have been implicated in the development of essential hypertension. Previously, we investigated the role of microRNAs in the regulation of these genes and showed in vitro that levels of the adrenally-expressed microRNA-24 (miR-24) inversely correlate with those of CYP11B1 and CYP11B2 mRNA, ...

The final reaction for cortisol production in the adrenal gland is catalysed by the 11β-hydroxylase enzyme, encoded by the CYP11B1 gene. Variants in this gene have been associated with alterations in cortisol levels, which increase blood pressure. This gene is traditionally thought to consist of 9 exons. However, recent evidence has predicted the existence of at least one alternatively spliced form.The presence of novel CYP11B1 mRN...

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...