Endocrine Abstracts

A previously well 27-year old female presented with atraumatic foot pain to the orthopaedic service and was identified to have a healing subacute metatarsal stress fracture in the right foot. In view of the unusual presentation, the patient was referred to the metabolic bone clinic for further evaluation.On initial evaluation the patient reported no prior skeletal, joint or dental problems. However at the time of review she reported pain in her right thi...

GATA3 mutations cause the congenital autosomal dominant hypoparathyroidism, Deafness and Renal dysplasia (HDR) syndrome. GATA3 belongs to a family of dual zinc-finger transcription factors that recognise the consensus (A/T)GATA(A/G) motif and are involved in vertebrate embryonic development. We investigated a HDR proband for GATA3 abnormalities. Venous blood was obtained after informed consent, as approved by the local ethical committee, and leukocyte DNA extracted. GATA3 spec...