Enver ŞİMŞEK, Taner YAVUZ, Kenan KOCABAY

Hipertiroidi, hiperkortizolizm ve püberte prekoks ile seyreden McCune-Albright sendromu: İki vaka sunumu

McCune-Albright sendromu (MCAS) kemiğin fibrodisplas-tik lezyonu, düzensiz, sütlü kahve lekeleri şeklinde cilt lezyonları ( "cafe au lait"), hiperfonksiyon ile seyreden bir veya birden fazla endokrinopati ile karakterizedir. Sendrom Ga proteininde aktivasyon mutasyonu sonucu ortaya çık-maktadır. Erken puberte, hipertiroidi, Cushing sendromu, akromegali veya jigantizm sıklıkla eşlik eden endokrinopatilerdir. Endokrin hiperfonsiyonlar hipotalamohipofizer aksdan bağımsızdır. Kliniğimizde MCAS tanısı konulan iki vaka (14 aylık erkek sütçocuğu, 7 yaşında kız) sunuldu. Endokrinopati olarak 14 aylık vakada hipertiroidi ve hiperkortizolizm, 7 yaşındaki vakada periferik erken puberte bulguları saptandı. Çocukluk çağında birden fazla hiperfonksiyon ile seyreden endokrinopatinin eşlik ettiği olgularda ve periferik erken pubertesi olan vakalarda, sütlü kahve lekeleri şeklinde kenarları, düzensiz cilt lezyonları görülürse, ayırıcı tanıda MCAS'nün da dikkate alınması açısından iki vakanın sunumu yapıldı.

Anahtar Kelimeler:

Süt çocuğu, Çocuk, Hipertiroidi, Cushing sendromu, Fibröz displazi, poliostotik, Buluğ, erken gelişmiş

McCune-Albright sendrome presenting with hyperthyroidism, hypercortisolism and precocious puberty: Report of two cases

McCune-Albright syndrome is characterized with polyostotic fibrous dysplasia, irregular cafe au lait (coast of Maine) skin lesions, and hyperfunctioning endocrinopathies. This syndrome is due to activating mutations of the Gtot protein. Peripheral endocrine hypersecretion, independent from hypothalamo-pituitary control, is the hall-mark of the syndrome. The most commonly associated endocrinopathies with McCune-Albright syndrome are precocious puberty, C us King's syndrome, hyperthyroidism, andgigantism oracromegaly. In the present study 14-month-old boy and 7-year-old girl are presented. Following the clinical diagnosis of McCune-Albright syn-drome, hypercortisolism and hyperthyroidism were shown in 14-month-old boy, and precocious puberty in 7-year-old girl. McCune-Albright syndrome should be in differential diagnosis when a child presents with one or more of the association of hyperthyroidism, hipercortisolism, peripheral precocious puberty, and cafe au lait spots.

Keywords:

Infant, Child, Hyperthyroidism, Cushing Syndrome, Fibrous Dysplasia, Polyostotic, Puberty, Precocious,

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