title: [Generalized lipodistrophy (Berardinelli-Seip syndrome)].
abstract: One case of Berardinelli-Seip syndrome or generalized Lipodistrophy is presented: generalized lack of adipose tissue, hepatosplenomegaly, increased development, hardness and prominence of muscles and phlebomegaly were present. In the presence of hormonal investigation (STH normal, LH and plasma testosterone increased) the possible pathogenesis of the syndrome is exposed. It is also striking the high incidence of this disorder in siblings.
mesh_terms: D015068:17-Ketosteroids / Q000652:urine; D000172:Acromegaly / Q000175:diagnosis*; D001921:Brain / Q000000981:diagnostic imaging; D005877:Gigantism / Q000175:diagnosis*; D006065:Gonadotropins, Pituitary / Q000097:blood; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D007223:Infant; D007328:Insulin / Q000097:blood; D008055:Lipids / Q000097:blood; D008060:Lipodystrophy / Q000175:diagnosis; D008297:Male; D010808:Physical Examination; D011029:Pneumoradiography; D011863:Radioimmunoassay; D013577:Syndrome; D013739:Testosterone / Q000097:blood / Q000652:urine
chemical_list: D015068:17-Ketosteroids; D006065:Gonadotropins, Pituitary; D007328:Insulin; D008055:Lipids; D013739:Testosterone; D013006:Growth Hormone
vernacular_title: Lipodistrofia generalizada congénita o síndrome de Berardinelli-Seip