A case of McCune-Albright syndrome with associated multiple endocrinopathies.
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).
Sung
Sang Hun
SH
Department of Internal Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea.
Yoon
Hyun Dae
HD
Shon
Ho Sang
HS
Kim
Hong Tae
HT
Choi
Woo Young
WY
Seo
Chang Jin
CJ
Lee
Joo Hyoung
JH
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
D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs