Presence of a Gs alpha mutation in an adrenal tumor expressing LH/hCG receptors and clinically associated with Cushing's syndrome.
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.
Bugalho
M J
MJ
Department of Endocrinology/Laboratory of Molecular Biology, Portuguese Cancer Institute, Lisbon, Portugal.
Li
X
X
Rao
C V
CV
Soares
J
J
Sobrinho
L G
LG
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
D006063:Chorionic Gonadotropin; D011974:Receptors, LH; D013739:Testosterone; D019314:Dehydroepiandrosterone Sulfate; D004247:DNA; D019205:GTP-Binding Protein alpha Subunits, Gs; D006854:Hydrocortisone