Endocrine Abstracts

We present a 3-month-old boy who was born at term, to non-consanguineous parents by spontaneous vaginal delivery, weighing 4.19 kg. Newborn examination, including eyes, was normal. He was admitted at 7 days of life with focal seizures and hypocalcaemia, hypomagnesaemia, hyperphosphataemia, and inappropriately low parathyroid hormone (PTH) levels. He was treated with i.v. calcium and magnesium infusions and discharged on oral calcium, magnesium, and alfacalcidol. He was re-admi...

Background: About one in 3000 babies born in the UK have congenital hypothyroidism (CHT), which is usually due to an agenesis of the thyroid gland, but some are due to dyshormogenesis, which can be transient or permanent.Method: Retrospective analysis of medical notes of infants referred as ‘suspect’ congenital hypothyroidism from the newborn blood spot screening centre to the paediatric endocrinology service at our hospital from January 2002 t...

Introduction: Prevalence of vitamin D deficiency is well recognised and public awareness is being raised to encourage intake of vitamin D supplements. Optimal serum concentration of 25OHD for bone and general health has not been established. Desirable serum concentration of 25OHD had been proposed as >75 nmol/l and levels above 500 nmol/l are deemed toxic. Guidance is available on tolerable upper limit of vitamin D intake by US Institute of Medicine....

Introduction: Evidence in the management of children with non-classical congenital adrenal hyperplasia (NCCAH) is limited. We describe the clinical presentations and treatment of NCCAH patients under a tertiary paediatric endocrine centre.Results: Data collected [reported in median(ranges)] identified 10(7M,3F) cases of NCCAH [21-hydroxylase deficiency(21-OHD)(n=9), 11-deoxycortisol deficiency(n=1)], ag...

A 3-year-old boy born to non-consanguineous parents. He was diagnosed to have autism at 2 years of age. He had a history of pica. He was admitted with severe carpopedal spasms of hands and feet. Investigations revealed severe hypomagnesaemia, hypocalcaemia, hypokalaemia, hyponatremia, and moderately low vitamin D levels. Parathyroid hormone concentration was low. Urine analysis revealed loss of sodium, calcium, magnesium and sodium. Renal functions and renal ultrasound were no...

Introduction: Daytime support from the diabetes-team reduces pressure on acute services however out-of-hours less support exists and diabetes related attendances to A&E are a potentially avoidable burden on resources. With the introduction of paediatric diabetes best-practice-tariff, recommendations included 24 h access to trained diabetes professionals for patients with known diabetes. In 2013 our three institutions created a consultant led out-of-hours paediatric diabete...