Endocrine Abstracts

Background: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. Newer therapies such as Anti Fibroblast Growth Factor 23 antibodies (burosumab) have now become available. An important treatment goal is to heal rickets; assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: (1) Assess disease severity ...

Background: Childhood obesity is a growing problem worldwide, with serious effects on child health. Obese children are at a higher risk of developing metabolic co-morbidities earlier in life (WHO, 2013). Manchester has worse than national average levels of obesity, with an estimated 14 000 obese children (PHE, 2014).Aims and methods: A retrospective case note analysis of 117 obese paediatric patients, seen in our service between March 2012 and 2014, was ...

Introduction: Focal congenital hyperinsulinism (F-CHI) is caused by dual-hit pathology, comprising a paternally-inherited ABCC8/KCNJ11 mutation and somatic loss of the maternal allele at chromosome 11p15. This leads to dysregulation of insulin secretion and β-cell overgrowth with a focal domain.Objectives: To compare the proliferative index (PI) of the F-CHI lesion and non-lesion pancreatic tissues to age-matched control pancreata and insul...

Introduction: In August 2015, a revision of the BSPED-recommended guideline for the management of diabetic ketoacidosis (DKA) was published. A key difference from the previous guideline was a reduction in maintenance fluid rates, with the aim of reducing the incidence of cerebral oedema. Since implementation of these national guidelines, there have been reports within regional networks of an increased incidence in mild acute renal impairment and hypokalaemia. This retrospectiv...

Introduction: Noonan syndrome (NS) (OMIM 163950) is an autosomal dominant clinically heterogeneous disorder characterised by multisystem involvement. Mutations in genes in the RAS/MAP signaling pathways are known to be responsible for ~70% of cases of NS. We report an infant with NS with early onset fragility fractures.Case report: A 15-month-old male infant with a history of atopic eczema, sparse hair on the scalp, slow motor development, feeding diffic...

Introduction: Congenital hyperinsulinism (CHI) is a rare condition of dysregulated insulin secretion causing hypoglycaemia. Oral Diazoxide is used as first line therapy for CHI. In those who are Diazoxide unresponsive, subcutaneous Octreotide is used as second line treatment. Octreotide has recognised side effects of biliary stasis. Additionally, we report hepatitis as a complication of Octreotide therapy in a child with CHI.Case report: A neonate with C...

Background: PHID syndrome has been recently described as a unique syndrome characterised by pigmented hypertrichosis; non immune mediated insulin depended diabetes mellitus (DM). Other associated features of the syndrome include pancreatic exocrine insufficiency, short stature and hypogonadism.Aims: To identify the genetic basis of PHID syndrome in six patients from five unrelated families and to characterise the endocrine features associated with this s...

Introduction: Congenital hyperinsulinism (CHI) is a disesase of severe hypoglycaemia, often due to in mutations in ABCC8/KCNJ11. Sirolimus, an mTOR inhibitor, has been reported to be successful in CHI patients, but the evidence is limited. We have aimed (i) to review the efficacy and safety profile of sirolimus, (ii) to assess the role of mTOR signalling pathways in CHI, (iii) to assess the impact of sirolimus in CHI pancreatic tissue.Methods: P...

Introduction: Asymptomatic hypercalcaemia in infants who are exclusively breast-fed is recognised in clinical practice but has never been evaluated and outcomes described if breast feeding is continued.Objective: We conducted a novel retrospective analysis to evaluate the biochemical and radiological outcomes of breast milk-induced hypercalcaemia. Methods: A multi-site retrospectiv...

Objective: To describe outcomes among children with hypophosphatasia (HPP) receiving asfotase alfa.Methods: This prospective, real-world study used data from all children with HPP receiving asfotase alfa in the UK Managed Access Agreement (MAA) to assess functional, health-related quality-of-life, and safety outcomes. Visits occurred at MAA enrolment, 3 and 6 months after enrolment, and every 6 months thereafter. Assessm...