hrp0086p2-p720 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Familial Williams Syndrome

Isguven Sukriye Pinar , Aydin Dilek Bingol , Karkucak Mutlu

Background: Williams Syndrome (WS) is a multisystemic genetic syndrome, which includes characteristic appearance of “elfian face”, growth retardation, mild mental retardation, hypersociality, infantile hypercalcemia, and other endocrine, cardiovascular, and urinary abnormalities. WS is caused by the microdeletion of chromosome 7q11.23; it is usually sporadic but rare autosomal dominant familial cases have been reported in the literature. We present a boy and his moth...

hrp0086p1-p918 | Thyroid P1 | ESPE2016

Thyroid Autoimmunity and Vitamin D Status in Euthyroid Girls with Hashimoto’s Thyroiditis

Isguven Sukriye Pinar , Aydin Dilek Bingol , Kilic Mukaddes

Background: Hashimoto thyroiditis (HT) is the most common autoimmune disorder. There are few studies that analysed the relationship between HT and serum vitamin D.Objective and hypotheses: It has been suggested that vitamin D acts as an immunomodulator in autoimmune diseases such as HT Therefore we planned to investigate vitamin D status in euthyroid girls with HT.Method: The study group consisted of 66 euthyroid pubertal girls rec...