Endocrine Abstracts

We are living through an exciting period during which new medical treatments are emerging for a range of rare bone diseases. These include monoclonal antibodies, small molecules and repurposed as well as truly innovative drugs. Whilst underlying the use of them all is an increased understanding of some aspect of bone biology, presently each sits at a different point on the pathway from bench to bedside. Asfotase alfa (bone-targeted alkaline phosphatase) is licensed for the tre...

Long bone fractures are common in childhood. However, recurrent fractures and certain types of fractures may indicate an underlying problem such as bone fragility. It is important to be able to identify those children who require closer evaluation and to consider how best to investigate such children. This should be done with an understanding of the likelihood and range of disease that may present with fractures, as well as the role of various modes of assessment. For those wi...

A clinically oriented, whistlestop tour through bone biology for the specialist nurse working in paediatric endocrinology, including bone growth, control of serum calcium, vitamin D metabolism and bisphosphonate therapy....

Congenital Generalised Lipodystrophy (CGL) is characterised by an inability to store energy in adipose tissue. Integral to CGL is severe insulin resistance resulting in hyperinsulinaemia and premature Type 2 diabetes (DM). Sulphonylureas are ineffective in CGL whilst insulin therapy is complicated by insulin resistance and absence of subcutaneous fat. We explored the possibility of using Metformin and Pioglitazone (both insulin sensitising agents) in CGL.PD presented aged ...

Background: Children presenting with diabetic keto-acidosis (DKA) as an initial presentation of diabetes mellitus are often unwell, with associated increases in mortality and morbidity. While electrolyte imbalances such as hypokalaemia and hypophosphataemia are well recognised, the incidence of hypercalcaemia is less well documented.Case: A previously healthy 12-year-old boy presented to hospital with a history suggestive of new onset diabetes. Initial b...

Mutations in the DAX-1 gene are well described in patients with adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism but can be a useful tool in the elucidation of unusual or difficult cases of adrenal insufficiency. As the clinical presentation of congenital adrenal hyperplasia and AHC can be clinically identical, diagnosis in the neonate often depends on the levels of 17-hydroxyprogesterone (17-OHP). If these are unavailable or non-diagnostic, gene analysis c...

Introduction: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive condition caused by inactivating mutations in the GALNT3 gene, characterised by elevated serum phosphate and 1,25(OH)2 vitamin D, increased urinary tubular reabsorption of phosphate and hyperostosis of long bones.Case report: A 15-year-old boy (weight+1.05 S.D.; height −0.1 S.D.) with consanguineous parents of...

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...

Objectives: X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. We report relevant real-world biochemical data following the first 6 months of buros...

Objectives: X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralization of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. We report relevant real-world biochemical data on children under five years old for the first 6 months of treatment.Methods: An early a...