Endocrine Abstracts

Multiple fractures, for which there is no clear explanation, raise the possibility of non-accidental injury (NAI). Vitamin D deficiency, defined as serum 25-hydroxyvitamin D (25OHD) concentrations of <50 nmol/l, is common during pregnancy and infancy.It had been suggested by Keller & Barnes (Pediatr Radiol 2008 38 1210–1216) that subclinical vitamin D deficiency could explain some fractures that have been ascribed t...

Rickets is a disease in which there is failure of mineralisation the growth plate and osteoid matrix. It is a disorder of the growing child which manifests during infancy (<18 months of age) and during the adolescent growth spurt. In the UK nutritional rickets is caused by vitamin D deficiency, although dietary calcium deficiency might exacerbate the disease. In humans the main source of vitamin D is by the conversion of 7-dehydrocholesterol in the skin to cholecalceferol ...

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The main source of vitamin D is by the conversion of 7-dehydrocholesterol in the skin to cholecalceferol upon exposure to sun’s ultraviolet B radiation. Vitamin D in diet may be supplied as cholecalceferol or as ergocalciferol, which is derived from plant sources. Vitamin D is metabolised in the liver to 25-hydroxyvitamin D (25OHD; measure of an individual’s vitamin D status) and by kidneys to 1,25-dihydroxyvitamin D, which is responsible for calcium & phosphorou...

Introduction and aims: Adequate dietary calcium (Ca) intake is important for maintenance of bone health. In a clinical setting we employ a simple Food Frequency Questionnaire (FFQ) for rapid assessment of dietary Ca intake. In this study we have validated our FFQ using a 3-day food diary (3FD) in children presenting to our metabolic bone and endocrine clinics.Methods: Dietary Ca intake values estimated using the FFQ were compared to those estimated by th...

Hypophosphataemic rickets with hypercalciuria (HHRH) is a rare autosomal-recessive condition, typically reported in consanguineous families. Milder forms, with less significant hypophosphataemia, present with hypercalciuria and nephrolithiasis, without bone disease and may be underdiagnosed. The underlying pathophysiology is due to mutations in the SLC34A3 gene, which encodes a sodium-phosphate transporter in the proximal renal tubules. Our patient, a 13-year-old Caucasian gir...

Hypophosphatasia (HPP) is an inherited systemic metabolic bone disease occurring due to mutations in the ALPL gene which encodes for tissue-nonspecific alkaline phosphatase (TNSALP), resulting in defective bone mineralisation due to accumulation of inorganic pyrophosphate (PPi). The perinatal form of this condition lays at the most severe end of the spectrum. Enzyme replacement therapy with asfotase alfa, a recombinant fusion protein that includes the catalytic domain...

17 years lady presented with a fall onto her left knee, following which she continued to have severe persistent pain and occasionally her knee gave away with intermittent “locking”. A referral to metabolic bone disease clinic was made as the left knee X-ray showed discreet spherical areas of increased radiological density with normal CT and MRI scans of the left knee. Physical examination was unremarkable. Her brother was under investigation for lumps under skin. Mor...

Background: Cerebral palsy (CP) is the most common physically disabling childhood motor disorder. Fractures in this group of children are common, however, prevalence and risk factors associated with fractures in children with CP in the UK is not known.Aims: The aims of this cross-sectional survey were i) to determine the prevalence of fractures in children with moderate-to-severe CP in Manchester, ii) to determine the common sites of fracture, and iii) t...