Endocrine Abstracts

Background: Infants presenting with life threatening hyponatraemia and hyperkalaemia present a diagnostic conundrum that can reflect abnormally low aldosterone production (e.g. congenital adrenal hyperplasia (CAH), renal resistance to aldosterone associated with infected urinary tract malformations or single gene disorders also associated with failure of the kidney to respond to aldosterone (pseudohypoaldosteronism). Although incidence figures for individual c...

Introduction: Transition from child to adult healthcare is a period of vulnerability for young people with diabetes. We hypothesised that patient satisfaction with services and patient wellbeing would be positively associated with a satisfactory clinical progression.Methods: We included data from 150 young people recruited in 2012 to a longitudinal study of transition (http:research.ncl.ac.uk/transition). Young people’s satisfaction with services (&...

Background: Many adolescents and young adults with DMD receive long-term glucocorticoids (GC), a well-recognised cause of hypogonadotrophic hypogonadism. Pubertal induction is routinely offered to DMD adolescents in our centre but few individuals remain on supplementation into adulthood and it is unclear whether these men have age-appropriate endogenous testosterone production. Salivary testosterone (SalT) measurement is available but has not been used to assess androgen statu...

Mutations in CYP11A1, like those in STAR cause lipoid congenital adrenal hyperplasia manifesting with adrenal and gonadal insufficiencies along with derangements of the renin/angiotensin system. Increased adrenal size is usually a feature of STAR but not of CYP11A1 mutation. Milder forms presenting without all of these features have also been described. We present six patients from four families with CYP11A1 mutations discovered by ...

Background: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy, resulting in death at a young age. Corticosteroids improve muscle function and slow disease progression. However long-term steroid therapy is a significant risk factor for osteoporosis.Aim: To assess the effect of oral bisphosphonate (risedronate) treatment on bone mineral density in a cohort of steroid-treated children with DMD.Method: Annual bone...

Background: Preterm infants represent around 10% of births worldwide and have increased risk of adverse metabolic outcomes in later life. The approach to feeding preterms must balance the need to promote brain growth by providing adequate nutrients whilst avoiding potentially harmful excess nutrition.Objective: To investigate the association between patterns of weight gain in infancy and childhood with later insulin sensitivity in adolescents who were bo...

Introduction: Studies have reported a rising incidence of congenital hypothyroidism (CHT) although the pathophysiology of most cases is unknown. A rising incidence is not simply a reflection of changing assay methodology and environmental factors may have an aetiological role. If so, then cases may exhibit space-time clustering, where cases occur at similar times and close proximities to other cases.Methods: We investigated whether there is evidence of s...

Radio-iodine (I131) (RI) is regarded as an effective therapy for patients with autoimmune hyperthyroidism (AH). Treatment protocols and outcomes are well defined in adult endocrinology practice but not for children and adolescents where RI is now considered a safe therapy option after relapse following anti-thyroid drugs (ATD). We retrospectively evaluated the use of RI in 36 patients (6M) with AH from 2 regional units located in the North and East of England. Data ...

Background: Environmental factors play a role in the aetiology of type 1 diabetes. A particular role for infectious exposures has been postulated. Temporal variation in incidence would be consistent with this hypothesis. We specifically aimed to test predictions of increasing incidence occurring among cases of type 1 diabetes in children (aged 0–14 years) that might arise as a result of an environmental mechanism.Subjects and methods: The study anal...

Introduction: The Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked condition characterised by reduced renal water clearance and hyponatraemia resulting from gain of function mutations in the type 2 Vasopressin (AVP) receptor (AVPR2). Female carriers were thought not to express a phenotype. We describe a kindred with NSIAD, highlighting molecular and physiological characteristics that extend understanding of this condition and of AVP production.<p c...