CONTEXT Mutations in the GH1 promoter are a rare cause of isolated growth hormone deficiency (IGHD). OBJECTIVE To identify the molecular aetiology of a family with IGHD. DESIGN DNA sequencing, electromobility shift (EMSA) and luciferase reporter assays. SETTING University Hospital. PATIENTS Three siblings (2M) born to consanguineous parents presented with IGHD with normal pituitary on M...

Insulin-like growth factor-I (IGF-I) stimulates cell proliferation and can enhance the development of tumors in different organs. Epidemiologic studies have shown that an elevated level of circulating IGF-I is associated to increased risk of breast cancer as well as other cancers. Genetic variants affecting the release or biological action of growth hormone (GH), the main stimulator of IGF-I pr...

Mutations in the transcription factors PROP1 and PIT1 (POU1F1) lead to pituitary hormone deficiency and hypopituitarism in mice and humans. The dysmorphology of developing Prop1 mutant pituitaries readily distinguishes them from those of Pit1 mutants and normal mice. This and other features suggest that Prop1 controls the expression of genes besides Pit1 that are important for pituitary cell mi...

PIT1 was chosen as a candidate gene to investigate its associations with growth, meat quality and carcass composition traits in the pig. PIT1 is known as the pituitary-specific activator of the growth hormone in several mammals. Furthermore, PIT1 is a positive regulatory factor of prolactin and thyroid-stimulating hormone beta. PIT1 is a member of the POU-domain family of genes and is located o...