Endokrin Açıdan İskelet Displazileri

Öz

İskelet displazileri kemik, kıkırdak veya her iki dokunun birden etkilendiği, farklı klinik ve radyolojik bulgular ile ortaya çıkabilen karmaşık bir hastalık grubudur. Ayrı ayrı hastalıklar olarak incelendiğinde ender olmakla birlikte, iskelet displazileri toplumda 1/3000-5000 sıklığında görü- lür. Klinik, laboratuvar, radyolojik ve moleküler değerlen- dirmelere göre 40 ana gruba ayrılabilen iskelet displazile- rinde çeşitli konjenital malformasyonlar, spinal anomaliler, ekstremite kısalıkları ve orantısız boy kısalıkları görülür. Çoğu genetik nedenli olan bu hastalıklarda kemik anoma- lileri yanında hipoglisemi, hipo/hiperkalsemi, adrenal yet- mezlik, pubertal gelişim sorunları ve cinsiyet farklılaşma bozuklukları gibi endokrinolojik sorunlar da ortaya çıka- bilmektedir. İskelet displazilerin ayırıcı tanısı için detaylı öykü ve muayene, iskelet grafileri, genetik inceleme, bazı ileri laboratuvar incelemeleri ve multidisipliner yaklaşım gerekir. Bu derlemede iskelet displazilerine genel yaklaşım, eşlik edebilecek endokrinolojik anormallikler ve 2010 yılında yayınlanmış en güncel sınıflamanın sunulması amaçlanmıştır

Anahtar Kelimeler

• İskelet displazisi,boy kısalığı,hiperglisemi,kalsiyum,endokrin,adrenal yetmezlik,puberte,cinsel gelişim bozukluğu

Skeletal Dysplasias from an Endocrine Point of View

Öz

Skeletal dysplasias are complex group of diseases with diffe- rent clinical and radiologic findings involving bone, and/or cartilage. Although skeletal dysplasias are rarely seen when considered individually, general incidence in the population is 1/3000-5000. Skeletal dysplasias are classified in 40 main groups on the basis of clinical, laboratory, radiological and molecular evaluations, and congenital malformations, spi- nal abnormalities, short extremities, and disproportionate short stature are seen in sekondereletal dysplasias. In addi- tion to bone abnormalities, endocrine problems including hyperglycemia, hypo/hypercalcemia, adrenal failure, puber- tal alterations, and disorders of sexual development which are mostly due to genetic disorders may accompany skeletal dysplasias. Differential diagnosis of skeletal dysplasias requires detailed history and physical examination, skeletal X-rays, genetic analysis, some advanced laboratory met- hods, and multidisciplinary aproach. In this review, it is aimed to present a general approach to skeletal dysplasias, endocrine abnormalities that may accompany, and the most recent classification published in 2010

Anahtar Kelimeler

• Skeletal dysplasia,short stature,hyperglycemia,calcium,endocrine,adrenal failure,puberty,disorders of sexual development

Kaynakça

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