Endocrine Abstracts

Background and aims: Rickets is a childhood condition resulting from impaired mineralisation of the growth plate, resulting in bony deformities. A retrospective survey was undertaken to identify causes of rickets in children treated at the Royal Manchester Children’s Hospital from 2009 to 2014.Methods: Cases of rickets were identified through a search of all paediatric radiology reports containing the words ‘Rickets’ or ‘Osteomalacia&...

Hypophosphatasia (HP) is a rare inborn error of metabolism resulting from inactivating mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Deficiency of alkaline phosphatase (ALK) activity leads to severe rickets. The perinatal form presents with extreme skeletal hypomineralisation at birth, and was a fatal condition until recently. We describe an 11-month-old infant who is one of the few surviving cases of a preterm infant with ...

Idiopathic infantile hypercalcemia (IIH) (OMIM 143880) is characterised by severe hypercalcemia, failure to thrive, vomiting, dehydration and nephrocalcinosis. Laboratory evaluation of infants affected with this condition reveals hypercalcemia, suppressed parathyroid hormone and hypercalciuria. Recently loss of function mutations in CYP24A1 gene have been found to cause IIH (New England Journal of Medicine 2011 365 410–21). Short-term treatment for th...

Laparoscopic adrenalectomy has become increasingly popular because of its minimally invasive nature for managing benign pathologies of the adrenals and isolated adrenal metastases, but selection of cases suitable for this surgical procedure is very important.We report a 61 year old lady who presented with symptoms of easy bruising, flushing, hoarse voice, weight gain and proximal muscle weakness. On examination, she was had moon facies, skin bruising and was hypertensive. ...

Introduction: Hypoparathyroidism is typically managed with calcitriol/alfacalcidol. Close monitoring of serum calcium is required as under-treatment causes symptomatic hypocalcaemia while over-treatment will cause nephrocalcinosis. We report three cases who demonstrated resistance to treatment during an intercurrent illness, necessitating increase in medication doses and monitoring.Case series: Case 1: Two-month-old boy with newly diagnosed hypo...

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: 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: 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...