Endocrine Abstracts

Introduction: Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and genetic background. The role of microbiota is still uninvestigated.Objective: Evaluate the gut microbiome ecology in relation to dietary and clinical parameters in two infant siblings with congenital generalized lipodystrophy type 4 (CGL4) before and after treatment with recombinant leptin.Method...

Mutations in genes encoding pituitary-specific factors have been identified in patients with idiopathic isolated GH deficiency (IGHD) or combined pituitary hormone deficiency (CPHD), with or without neuro-morphological abnormalities. We screened 205 IGHD (M/F:131/74; 183 sporadic and 22 belonging to 12 families) for mutations in GH1, GHRH-R, HESX1 and 129 CPHD, (M/F:75/54; 118 sporadic and 13 belonging to 9 families) for mutations in PIT1, PROP1, <i...