5 research outputs found

    Long-term monitoring of Graves' disease in children and adolescents: a single-center experience

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    Background/aim: Graves' disease (GD) is more severe, requires a more complex treatment, and has a lower probability of achieving remission in children than in adults. 'there is no consensus on the appropriate duration of antithyroid drug (ATD) treatment. Surgical or radioactive iodine (RAI) treatments are not definitive and generally result in permanent hypothyroidism. This study's goal was examining the effectiveness of ATD treatment in children and adolescents with GD and determining the risk factors of remission and relapse

    Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1

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    Objectives: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by salt wasting or virilization. 21 hydroxylase deficiency (21-OHD) accounts for 90-95% of all cases of CAH and caused by the genetic defects of CYP21A2. Other forms include 3-beta-hydroxysteroid dehydrogenase deficiency, 11-beta-hydroxylase deficiency (11 beta-OHD) (%5-8), 17-alpha-hydroxylase deficiency (17 alpha-OHD), and steroidogenic acute regulatory protein (STAR) defects (congenital lipoid adrenal hyperplasia) with mutations in HSD3B2, CYP11B1, CYP17A1, and STAR, respectively. Objectives: Herein, we aimed to present the clinical and genetic features of 64 patients with various types of CAH
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