Endocrine Abstracts

Self-limited delayed puberty is a condition that is frequently familial with strong genetic determinants. It has been linked to coding region sequence variation by next generation sequencing of affected individuals, identifying genetic regulation of gonadotropin-releasing hormone (GnRH) pathways underlying this condition. However, the role of epigenetic modifiers of human pubertal timing is underexplored. The Hypothalamic-pituitary-gonadal (HPG) axis is unique as it is active ...

Background: Breast cancer survivors are a growing population due to improved treatment. It is known that postmenopausal women treated for breast cancer may experience weight gain and increased insulin resistance, but detailed knowledge on how chemotherapy impact metabolic and endocrine mechanisms remain unknown. Objective: We performed a thorough, preliminary study to elucidate the differing mechanisms of post-prandial absorption and metabolism in postme...

Loss of function of succinate dehydrogenase (SDH), caused by mutations in each of the 4 subunits – SDHA/B/C and D – is associated with development of phaeochromocytomas and paragangliomas (PPGLs). The mutations lead to loss of enzymatic activity and subsequent accumulation of the oncometabolite succinate, a driver of tumourigenesis. It is well established but poorly understood why mutations in SDHB are associated with more aggressi...

Background: Management of patients with CAH remains challenging. There is increasing evidence to suggest that failure to optimize treatment during childhood not only affects final height but also leads to psychological and psychiatric problems. Previous qualitative structural T2-weighted MRI studies have identified white matter hyper-intensities in up to 46% of CAH patients. The nature and functional relevance of these abnormalities remains unknown.Objec...

Introduction: Obese persons may have low vitamin D levels due to behaviors (clothing, time outdoors) that can reduce synthesis of vitamin D. In overweight and obese individuals there are limited quantitative data regarding relationships among serum 25(OH)D, time spent outdoors, sun exposure, and clothing worn.Methods: We assessed environmental and behavioral factors that contribute to cutaneous synthesis of serum 25(OH)D in 63 overweight and obese indivi...

Introduction: Factors determining remission and relapse in children with thyrotoxicosis include ethnicity, age and thyroid hormone levels at diagnosis. We investigated if similar factors influence remission and relapse in a contemporary cohort of children with autoimmune thyrotoxicosis treated by dose titration of carbimazole.Methods: Forty-seven children (39 females) with thyrotoxicosis, treated with carbimazole, were followed up for ≥2 years. Ini...

Background: A key element of the transition process is encouraging young people (YP) to become more independent in their healthcare. However it is not known what skills YP feel they need before being ready for transfer to adult services.Method: A simple questionnaire was designed for YP to rate out of 5 A. their current status in terms of 5 aspects of independence in healthcare (5 “yes, I do it all of the time” to 1 “no, my family does it ...

Background: Obese young people are likely to suffer significant morbidity in adult life. Successful intervention during adolescence may have far-reaching benefits. Evidence is emerging that patient-responsive clinical services may deliver improved outcomes.Aims: To assess the perceptions of obese young people about weight and weight-management services.Method: Annonymised, postal questionnaire survey of 116 obese young people (9&#1...

Objective: To evaluate longitudinal growth in 21-hydroxylase deficiency CAH, factors contributing to this and outcome for BMI, weight (Wt) and height (Ht) in adolescence.Methods: Multi-level longitudinal models were used to evaluate growth patterns of 28 males and 29 females with CAH. Age at adiposity rebound was derived from the roots of the fitted curves and compared to UK 1990 references. The influence of hydrocortisone (HC) and fludrocortisone (FC) d...

CHI is a disorder of dysregulated insulin release characterised by severe recurrent hypoglycaemia. Mutations in genes encoding the beta-cell sulphonylurea receptor (ABCC8) and inward-rectifying potassium-channel (KCNJ11) are the commonest genetic cause of CHI, followed by that encoding glutamate dehydrogenase (GLUD-1). Histologically, disease pathology is subdivided into diffuse or focal disease; the latter associated with paternal mutations and somatic lo...