Filiz Mine ÇİZMECİOĞLU, Şükrü HATUN, Elif ÖZSU, Gül MUTLU YEŞİLTEPE

McCune Albright Sendromu ve büyüme hormonunda aşırı salgılanma: olgu sunumu

Mc-Cune Albright Sendromu, endokrin organların aşırı çalışması ile giden patojenezinde uyarıcı G protein alfa alt biriminde aktive edici mutasyonların sorumlu olduğu nadir görülen bir sendromdur. Hastalığın üç ana bulgusu, deride hiperpigmente café au lait lekeleri, fibroz displazi ve endokrin işlevlerde artma olup büyüme hormon aşırı salınımı etkilenmiş olguların %21de görülmektedir. Erken ergenlik ve kraniyofasyal fibröz displazi nedeni ile bu olgularda klinik bulgular atlanabilir. Radyoterapi sarkomatöz değişikliklere neden olduğundan ve transsfenoidal cerrahi de kafatası kemiklerinde şiddetli kalınlaşmalara sebep olabildiğinden uygun tedavi seçenekleri olmayıp, tıbbi tedavi önerilmektedir. Bromokriptin, kabergolin ve okterotit veya bunların farklı bileşimleri uygulanan tedavi şekilleri olup son yıllarda pegvisomant da kullanım alanı bulmuştur. Biz burada 12 yaş yedi aylık erkek olguyu aşırı uzun boy (197 cm), deride café au lait lekeleri ve ağızdan glükoz yükleme testi ile baskılanamayan büyüme hormon düzeyleri ve yüksek prolaktin seviyeleri ile Mc-Cune Albright Sendromunun nadir bir klinik yansıması olan gigantizmi göstermek için sunduk

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

McCune-Albright Syndrome is a rare syndrome characterized with excessive function of peripheral endocrine organs and activating mutations of the stimulatory G protein alpha subunit are involved in the pathogenesis. The three main findings of the disease include hyperpigmented café au lait spots, fibrous dysplasia and increased endocrine functions and excessive secretion of growth hormone is observed in 21% of the patients. Clinical signs may be missed in these patients because of precocious puberty and craniofacial fibrous dysplasia. Since radiotherapy causes to sarcomatous changes and transphenoidal surgery may cause to severe thickennings in the cranial bones, they are not appropriate treatment options and medical treatment is recommended. Bromocriptine, cabergoline and octreotide or different combinations of these drugs are used in treatment and pegvisomant has also been used in recent years. Here, we present a 12 male patient aged 12 years and 7 months to show gigantism as a rare clinical reflection of McCune-Albright Syndrome with an excessive height (197 cm), café au lait spots, growht hormone levels which could not be supressed with oral glucose tolerance test and increased prolactin levels.

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