Endocrine Abstracts

Longitudinal growth in children is determined by endochondrial ossification at the growth plates of long bones and spinal growth. Whilst the assessment, monitoring and treatment of conditions which are responsive to growth hormone is well documented, conditions where children have an underlying bone disorder are more challenging. This paper will outline the important, common, primary bone conditions that impact growth, the assessment and effects that disordered growth has on t...

Hypercalcaemia has been previously described in association with ketogenic diet (KD), occurring within 12 months of starting KD. We present a case where severe hypercalcaemia occured after four years on KD.Case: A 5.5-year-old boy referred for hypercalcaemia in context of early sepsis and background of Dynamin-1 gene mutation causing infantile epileptic encephalopathy. He had been commenced on KD at 18 months of age for drug-resistant seizures. A Deep Br...

Background: Cystic fibrosis related diabetes (CFRD), a common complication of CF, contributes to increased morbidity and mortality and is a poor prognostic indicator. Whilst liver transplant is a well-established treatment for end stage liver disease (ESLD) in CF, there are few reports of simultaneous pancreatic transplant in the paediatric population. We report the nutritional and endocrine outcomes of two adolescent CF patients who underwent combined liver and pancreas trans...

Background: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide. Incidence of iodine deficiency may be rising due to usage of vegan diet.Case presentation: We present siblings aged 2.5 years boy and 6 years old girl from family who are strict vegans. Both children have been on vegan diet since birth. Boy attended hospital urgently due to significant concerns about hypothyroidism. His TSH level 2 months before admission was 187...

Background: Activating mutations in the calcium sensing receptor can result in severe hypoparathyroidism with symptomatic hypocalcaemia. Complications of treatment with calcitriol or alfacacidol include hypercalciuria, nephrocalcinosis and renal failure. The use of synthetic parathyroid hormone (PTH 1–34, teriparatide) provides a more physiological treatment option and reduces the risk of hypercalciuria. Intermittent injections of PTH have been used with some success but ...

Childhood hypothyroidism results in delayed skeletal maturation and impaired growth. Thyroid hormones act via thyroid hormone receptors α (TRα) and TRβ which are tempo-spatially regulated. In the skeleton, TRα is the predominant receptor, thus we hypothesise that the skeletal effects of hypothyroidism are mediated by TRα. To investigate this we assessed the response of wild type (wt), TRα knockout (TRα0/0) and TRβ knockout (TR...

Introduction: Severe generalised recessive dystrophic epidermolysis bullosa (RDEB) is a rare disorder resulting from loss of function mutations in the type VII collagen gene (COL7A1). Although RDEB is characterised by severe trauma induced skin blistering and erosions, it is a multisystem disorder with low bone mass as one of the many complications.Objectives: We sought to describe the prevalence of low bone mass, vertebral fractures and scolios...

Background: Achondroplasia, the most common skeletal dysplasia, carries a highest risk of developing foramen magnum stenosis (FMS), particularly in young children, leading to cervicomedullary compression and potentially fatal outcomes. Early detection of spinal cord changes through routine MRI screening can help reducing the morbidity and mortality in this population. Considering recent evidence, the bone team at Evelina London Children’s Hospital impleme...

Burosumab, monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We explored the effects of this treatment in a clinical setting, considering biochemistry, growth, deformity, functionality, quality of life, pain and fatigue.Methods: Clinical, biochemical, radiological and questionnaire data were reviewed at 6 and 12 months(m) for 8 children with XLH starting burosuma...

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...