Endocrine Abstracts

Introduction: Noonan syndrome (NS) (OMIM 163950) is an autosomal dominant clinically heterogeneous disorder characterised by multisystem involvement. Mutations in genes in the RAS/MAP signaling pathways are known to be responsible for ~70% of cases of NS. We report an infant with NS with early onset fragility fractures.Case report: A 15-month-old male infant with a history of atopic eczema, sparse hair on the scalp, slow motor development, feeding diffic...

Osteoblasts and adipocytes are derived from the same stem cell in adult marrow and plasticity exists between the two lineages. In Osteoporosis there are reduced osteoblast numbers and increased adipocyte numbers suggesting a disturbance in the normal balance of the cells' differentiation pathways, leading to defective osteoblastogenesis and favouring adipogenesis. The stage of adipocytic differentiation at which plasticity is lost and commitment is established is not known. We...

Osteoblasts and adipocytes are derived from the same stem cell in adult marrow and plasticity exists between the two lineages. In Osteoporosis there are reduced osteoblast numbers and increased adipocyte numbers suggesting a disturbance in the normal balance of the cells' differentiation pathways, leading to defective osteoblastogenesis and favouring adipogenesis. The stage of adipocytic differentiation at which plasticity is lost and commitment is established is not known. We...