Endocrine Abstracts

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...

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...

Introduction: PTEN-harmatoma-tumor syndrome is an umbrella term that describes a group of genetic disorders linked to germline mutations of PTEN (Phosphatase and tensin homolog), a tumor suppressor gene that inhibits the PI3/Akt signalling pathway thereby inhibiting proliferation, cell survival and angiogenesis. PTEN-harmatoma-tumor syndrome encompasses Cowden‘s Syndrome, Bannayan–Riley–Ruvalcaba syndrome, and autism spectrum disorder (ASD) associated with macro...

Introduction: Vitamin D regulates calcium and phosphorus metabolism. Although Turkey is a sunny country, vitamin D deficiency is a major problem in pregnant mother and their infants. The purpose of this study was to evaluate vitamin D levels in mothers with or without vitamin D supplementation and their newborns’ cord bloods.Methods: Healthy pregnant women and their healthy term babies were enrolled in the study. Levels of vitamin D, parathyroid hor...

Sarcoidosis is a rare multisystem granulomatous disease that most commonly affects the lungs and skin, and can also affect eyes and lymph glands. We describe an unusual case of sarcoidosis presenting with hypercalcemia, causing diagnostic challenges. A 5year old boy was incidentally found to have asymptomatic hypercalcaemia during a routine clinic review for failure to thrive. Apart from a recent Influenza A infection, when he was found to have normal calcium levels and severe...

Introduction : Most common cause of rickets is vitamin D deficiency. Genetic mutations in the metabolism and function of Vitamin D is a rarer cause of rickets.Case report : A16 month old male presented with bilateral clavicular swelling, constipation, generalised weakness and poor growth. He also had delay in motor milestones and was only able to sit with support. He was born in the UK to consanguineous parents of Asian origin.Exam...

Background: Bone metabolism and development of teeth are under the influence of systemic factors. Recent studies confirmed the close relationship between the oral tissues with the most prevalent systemic bone disorders in adolescents.Objective and methods: This study employed a simple method to be easily reproducible: oral clinical exam and radiographic evaluation. Eight patients were studied, 4 males, median age of 15 years (12 to 17).<p class="abst...

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...

Introduction: Rickets was once considered to be a disease of the Victorian Era but it has become increasingly common in recent years. The most common cause is Vitamin D deficiency; however it is important to investigate for rarer causes if Vitamin D deficiency has been excluded.Case report: A healthy, Caucasian 3 year old girl was referred due to bowing of her femora, apparent since she started walking at 13 months. She was reported to be clumsy and tire...