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).

Anesthetic Consideration of a Patient with McCune-Albright Syndrome: A Case Report

“…Growth hormone hypersecretion is common in the McCune-Albright syndrome and acromegaly can appear [4]. With acromegaly, small low jaw and large tongue can impede larynx visualization.…”

“…Central precocious puberty, congenital adrenal hyperplasia, neurofibromatosis, ossifying fibrous dysplasia, thyrotoxicosis and various congenital syndrome associated with hydrocephalus should be considered as differential diagnosis [2] [3] [4].…”

“…At the McCune-Albright syndrome, femur and craniofacial bone could be commonly involved for fibrous dysplasia [4]. Fibrous dysplasia of the craniofacial bones can lead visual disorder, exophthalmos, nasal obstructions, asymmetry of face and hearing impairment.…”

Gigantism Treated by Pure Endoscopic Endonasal Approach in a Case of McCune-Albright Syndrome with Sphenoid Fibrous Dysplasia: A Case Report

“…different hormone secreting (prolactin [PRL]-, growth hormone [GH]-, PRL-GH-, thyroid-stimulating hormone [TSH]-, and adrenocorticotropic hormone [ACTH]) pituitary adenomas , precocious puberty, adrenal primary hyperplasia, hypophosphatemic rickets/osteomalacia, and even ovarian cysts. 2,6,11,[14][15][16] Secreting üituitary adenomas are reported in association with more than 50% of the MAS cases. 14 As well as endocrinologic disorders, fibrous dysplastic bone changes in MAS occur in various forms, such as expansions, cystic lesions, and fibrous thickening that, quite unlike the sclerotic tissues, have an active vascular network in the interior.…”

“…[1][2][3][4][5][6] MAS results from mosaic G protein α-subunit (GNAS)-activating mutations. Postzygotic mutation in the GNAS gene activates G protein, cyclic adenosine monophosphate (cAMP), and the adenylate cyclase pathway, resulting in a mosaic population of cells that affect multiple organ systems by various pathogeneses.…”