A case report: Werner

Abstract

Werner\'s syndrome (WS) is an extremely rare and autosomal recessive premature aging syndrome characterized by scleroderma-like skin changes, alopecia, leg ulcers, short stature, cataract, early atherosclerosis, osteoporosis, hypogonadism and increased susceptibility to malignancies and diabetes mellitus. It can be typically recognized at the third or fourth decades of life. Patients with WS usually die at the age of 40-50 years due to malignant tumors or atherosclerotic complications. Therefore, early recognition of WS is of great importance for genetic counseling and for the identification of malignant tumors, atherosclerosis, diabetes, or osteoporosis at an early stage, since they are the most important factors causing morbidity and mortality. In this article, growth retardation, premature aging, early cataract, the findings of hypergonadotropic hypogonadism syndrome was hospitalized and diagnosed with wermer 19-year-old male patient is presented.

Keywords

• Werner\'s syndrome, premature aging, hypogonadism

Olgu sunumu: Werner Sendromu

Abstract

Werner sendromu (WS) skleroderma benzeri deri değişiklikleri, alopesi, bacak ülserleri, kısa boy, katarakt, erken ateroskleroz, osteoporoz, hipogonadizm, diyabetes mellitus ve malignitelere yatkınlıkla karakterize otozomal resesif kalıtım gösteren ve oldukça nadir görülen erken yaşlanma sendromudur. Tipik olarak hayatın üçüncü veya dördüncü dekatında tanınabilmektedir. WS\'li hastalar genellikle aterosklerotik komplikasyonlar ve malign tümörler nedeni ile 40-50\'li yaşlarda kaybedilmektedir. Bundan dolayı, WS\'nin erken tanısı, önemli mortalite ve morbidite nedenleri olan maling tümörler, ateroskleroz, diyabet veya osteoporozun erken evrede tespit edilmesi için ve genetik danışmanlık açısından büyük önem taşımaktadır. Bu makalede, büyüme gelişme geriliği, erken yaşlanma, erken katarakt, hipergonadotropik hipogonadizm bulgularıyla kliniğimize yatırılan ve werner sendromu tanısı konulan 19 yaşındaki erkek olguyu sunduk.

Keywords

• Werner sendromu, erken yaşlanma, hipogonadizm

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