title: A case of McCune-Albright syndrome with associated multiple endocrinopathies.
abstract: McCune-Albright syndrome (MAS) is a rare disorder that develops from an activating mutation in the Gs gene. It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the hyperactivity of a variety of endocrine glands. Recently we encountered a patient with MAS with fibrous dysplasia, skin pigmentation, acromegaly, hyperprolactinemia and a thyroid nodule. A 23-year-old male presented for an evaluation of a change in his facial structures. Fibrous dysplasia was diagnosed by a bone biopsy and radiographic studies. The GH level increased paradoxically after an oral glucose load. The plasma prolactin, IGF-1 and alkaline phosphatase were high. Thyroid ultrasonography revealed multiple nodules. The brain MRI demonstrated a mass in the left pituitary gland. Genetic analysis identified a change from Arg (CGT) at codon 201 to Cys (TGT).
authors.affiliation: Department of Internal Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea.
authors.forename: Sang Hun
authors.initials: SH
authors.lastname: Sung
authors.forename: Hyun Dae
authors.initials: HD
authors.lastname: Yoon
authors.forename: Ho Sang
authors.initials: HS
authors.lastname: Shon
authors.forename: Hong Tae
authors.initials: HT
authors.lastname: Kim
authors.forename: Woo Young
authors.initials: WY
authors.lastname: Choi
authors.forename: Chang Jin
authors.initials: CJ
authors.lastname: Seo
authors.forename: Joo Hyoung
authors.initials: JH
authors.lastname: Lee
mesh_terms: D000172:Acromegaly / Q000175:diagnosis* / Q000209:etiology; D000328:Adult; D019080:Cafe-au-Lait Spots / Q000209:etiology / Q000235:genetics; D002864:Chromogranins; D005359:Fibrous Dysplasia, Polyostotic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D006966:Hyperprolactinemia / Q000209:etiology / Q000235:genetics; D008297:Male; D009154:Mutation; D011629:Puberty, Precocious / Q000209:etiology / Q000235:genetics; D013959:Thyroid Diseases / Q000209:etiology / Q000235:genetics
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs