Endocrine Abstracts

Swyer syndrome (pure gonadal dysgenesis) is characterised by female phenotype with a 46 XY genotype due to a mutation of the sex determining region (SRY) gene on the y chromosome. A 28 year old presented with back pain after an accident and had a 2nd lumbar vertebral fracture and severe osteoporosis. The DEXA scan T score was −4.2. Procollagen Type 1 pro peptide and Osteocalcin levels were high. She had been in good health and denied any family illness. She was 180 cm ta...