title: Presence of a Gs alpha mutation in an adrenal tumor expressing LH/hCG receptors and clinically associated with Cushing's syndrome.
abstract: We describe the case of a patient with Cushing's syndrome due to a functioning adrenal adenoma. There was a pronounced increase in serum and urinary cortisol after administration of human chorionic gonadotropin. Immunocytochemistry revealed positive immunostaining for LH/hCG receptors. Molecular analysis documented the presence of a gsp mutation at codon 201 (CGT to TGT). The existence of this type of hCG-responsive adrenal tumor may help explain the higher prevalence of cortisol-secreting adrenal tumors versus pituitary-dependent disease in pregnant women with Cushing's syndrome as well as some reported cases of remission following delivery.
authors.affiliation: Department of Endocrinology/Laboratory of Molecular Biology, Portuguese Cancer Institute, Lisbon, Portugal.
authors.forename: M J
authors.initials: MJ
authors.lastname: Bugalho
authors.forename: X
authors.initials: X
authors.lastname: Li
authors.forename: C V
authors.initials: CV
authors.lastname: Rao
authors.forename: J
authors.initials: J
authors.lastname: Soares
authors.forename: L G
authors.initials: LG
authors.lastname: Sobrinho
mesh_terms: D000236:Adenoma / Q000737:chemistry / Q000235:genetics*; D000310:Adrenal Gland Neoplasms / Q000737:chemistry / Q000235:genetics*; D000328:Adult; D006063:Chorionic Gonadotropin; D003480:Cushing Syndrome / Q000235:genetics*; D004247:DNA / Q000032:analysis; D019314:Dehydroepiandrosterone Sulfate / Q000097:blood; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D006854:Hydrocortisone / Q000097:blood / Q000652:urine; D007150:Immunohistochemistry; D009154:Mutation; D011974:Receptors, LH / Q000032:analysis; D013739:Testosterone / Q000097:blood
chemical_list: D006063:Chorionic Gonadotropin; D011974:Receptors, LH; D013739:Testosterone; D019314:Dehydroepiandrosterone Sulfate; D004247:DNA; D019205:GTP-Binding Protein alpha Subunits, Gs; D006854:Hydrocortisone