Endocrine Abstracts

Introduction: Underlying causes of short stature are difficult to establish and many patients with short stature do not have a clear diagnosis. Careful examination and investigation of patients with short stature may identify additional features that help to make a diagnosis or direct genetic testing. Here we describe a patient with severe short stature with additional features on examination and skeletal survey in keeping with KBG syndrome. In addition, the patient developed ...

We present 3 children in a single centre with Myhre syndrome (MS) due to a heterozygous SMAD4 Ile500val mutation. Consistent features were brachydactyly, joint restriction, muscular hypertrophy, genital abnormalities, conductive hearing loss and developmental delay. SGA and height were variable. Diagnosis was made by next generation sequencing in patients 1 and 3 and on the skeletal survey in patient 2. Retrospectively, features of Myhre syndrome were present on the s...

Introduction: Denosumab, a human monoclonal antibody that inhibits activation of osteoclasts provides sustained suppression of bone turnover in osteolytic bone disease. Denosumab has rarely been associated with late hypercalcaemia following therapeutic administration for bone tumours in children, bone metastases in adults and in children with Osteogenesis Imperfecta Type VI.Case report: A male child of Indian origin was referred for advice to GOSH from a...