Endocrine Abstracts

Sclerostin (SOST) and Dickkopf-related protein 1 (DKK1) are antagonists of Wnt signalling, inhibiting osteoblast activity and indirectly stimulating osteoclast activity. SOST and DKK1 antibody therapy leads to increases in bone mass and bone formation. However, reported associations between plasma SOST and DKK1 concentrations and measures of bone mass and turnover are conflicting. This study in healthy older men and women (n =379; median 74.1 [IQR 71.5-77.0]y) investi...

Burosumab has become available as a treatment for children with X-linked hypophosphatemia (XLH) and is a recombinant fully human IgG1 against FGF23. By binding to the active FGF23, burosumab inhibits its effect and symptoms (growth retardation, rickets, enthesiopathy, low phosphate) may improve, however, not in all children. Concomitantly paediatricians are keen to measure FGF23, in treated children, to avoid overtreatment with burosumab, associated with potential calcificatio...

A 28 year old female was referred to endocrinology after routine bloods during first trimester of pregnancy demonstrated a low alkaline phosphatase (ALP) of 14U/l (range 30-130U/l). Calcium, phosphate and vitamin D were normal. There is no past medical history, no fragility fractures, no dental concerns and height was normal (157.5cm). Her only family history was her mother lost her teeth prematurely. Biochemical testing showed a raised copper level of 26.0µmol/l (range 1...

Background: HDR syndrome also known by the eponym Barakat syndrome, is a rare, autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural hearing loss, and renal abnormalities. It is caused due to mutation (haploinsufficiency) in GATA3 gene on chromosome 10p with a wide spectrum of phenotypic variations.Case Presentation: A 33-year-old lady presented to emergency department with an episod...