title: Hypothalamic-pituitary dysfunction and Hirschsprung's disease in the Bardet-Biedl syndrome.
abstract: A child with the Bardet-Biedl syndrome associated with Hirschsprung's disease and multiple anterior pituitary hormone deficiencies is described. The importance of endocrine assessment of such patients who show disturbance of growth or puberty is emphasized.
authors.affiliation: Department of Pediatrics, Ospedale Generale, Bolzano, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Radetti
authors.forename: R
authors.initials: R
authors.lastname: Frick
authors.forename: B
authors.initials: B
authors.lastname: Pasquino
authors.forename: G
authors.initials: G
authors.lastname: Mengarda
authors.forename: M O
authors.initials: MO
authors.lastname: Savage
mesh_terms: D002648:Child; D005260:Female; D007987:Gonadotropin-Releasing Hormone / Q000172:deficiency*; D006065:Gonadotropins, Pituitary / Q000172:deficiency*; D006627:Hirschsprung Disease / Q000378:metabolism*; D006801:Humans; D007849:Laurence-Moon Syndrome / Q000378:metabolism*; D013972:Thyrotropin / Q000172:deficiency*
chemical_list: D006065:Gonadotropins, Pituitary; D007987:Gonadotropin-Releasing Hormone; D013972:Thyrotropin