Acromegaly with Fibrous Dysplasia: McCune-Albright Syndrome-Clinical Studies in 3 Cases and Brief Review of Literature-

Abstract

Abstract. The McCune-Albright syndrome (MAS) is characterized by a triad of poly/monostotic fibrous dysplasia, café-au-lait macules and hyperfunctioning endocrinopathies including growth hormone (GH) excess. Polyostotic bone lesions and café-au-lait macules are common while monostotic bone lesions are rare. Similarly, acromegaly as a manifestation of endocrine hyperfunction with MAS is uncommon and in most of the instances somatotropinoma has not been documented. We report 3 patients, two of them had monostotic lesion, none had café-au-lait macules and all had GH secreting pituitary macroadenoma. All of them underwent transfrontal pituitary adenomectomy and had histopathological confirmation of GH secreting pituitary adenoma. A brief review of literature is also presented.

Mc Cune-Albright syndrome: Case report

“…McCune-Albright-ov sindrom (MAS) je kongenitalno, nenasledno benigno oboljenje koje je posledica somatske aktivišuće mutacije, koja se dešava po formiranju zigota u genu koji kodira alfa subjedinicu stimulatornog G proteina (Gs) na hromozomu 20q13 i karakteriše se trijasom: osteofibroznom displazijom, kožnim pigmentacijama, kao "bela kafa", i/ili raznim vrstama endokrinopatija [1,2,3].…”

“…DISKUSIJA I ZAKLJUČAK Osteoibrozna displazija (OFD) je retko oboljenje nepoznate etiologije u kom fibrozno tkivo postepeno zamenjuje normalnu kost, usled čega dolazi do savijanja i prekomernog rasta kostiju. Prema kliničkim manifestacijama, OFD se deli u tri grupe: (1) monoostotsku, gde je zahvaćena samo jedna kost, i koja je najčešća (70% slučajeva); (2) poliostosku, gde je zahvaćeno više kostiju, i koja je reĎa (30% slučajeva); i (3) McCune-Albright-ov syndrome (MAS), koji je retka varijanta mono ili poliostotske OFD, udružene sa kožnim pigmentacijama kao "bela kafa" (cafe-au-lait spots) i hiperfunkcijskim endokrinopatijama [1,2,3].…”

“…Mc Cune-Albright syndrome, osteofibrous dysplasia, autonomous hyperthyroidism UVOD McCune-Albright-ov sindrom (MAS) je kongenitalno, nenasledno benigno oboljenje koje je posledica somatske aktivišuće mutacije, koja se dešava po formiranju zigota u genu koji kodira alfa subjedinicu stimulatornog G proteina (Gs) na hromozomu 20q13 i karakteriše se trijasom: osteofibroznom displazijom, kožnim pigmentacijama, kao "bela kafa", i/ili raznim vrstama endokrinopatija [1,2,3]. PRIKAZ SLUČAJA Pacijentkinja starosti 46 godina javila se polovinom juna 2014. na scintigrafiju skeleta sa uputnom dijagnozom osteolitičnih promena na III, IV i V rebru desnog hemitoraksa.…”

McCune Albright syndrome in association with excessive GH secretion: case report

“…Treatment-related side effects include impaired glucose tolerance with use of long-acting somatostatin and gallbladder stones following combination treatment (12)(13)(14). In our patient, stone was observed in the gallbladder at the end of the one-year follow-up period, but fasting and postprandial blood glucose levels were found to be normal.…”

Case Study of a 15-Year-old Boy with McCune-Albright Syndrome Combined with Pituitary Gigantism: Effect of Octreotide-long Acting Release (LAR) and Cabergoline Therapy

“…MAS patients may also present with a number of other endocrine abnormalities which include hyperfunctional thyroid nodules, macronodular adrenal hyperplasia or adrenal adenomas, pituitary tumors leading to acromegaly and/or hyperprolactinemia, and hypophoshatemic rickets or osteomalacia [1][2][3][4]. The underlying molecular mechanism of MAS is a postzygotic activating mutation of the GNAS gene that encodes for the α-subunit of the stimulatory heterotrimeric G protein complex Gsα [1,2].…”