Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases
نویسندگان
چکیده
منابع مشابه
Epidemiology of thyroid dysgenesis: the familial component.
The pathophysiology of thyroid dysgenesis remains unclear and, until recently, this disorder was generally regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%) through the study of subjects with congenital hypothyroidism, and more recent work has revealed an even higher proportion of familial thyroid dysgenesis in both symptomatic and asy...
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The classical triad of McCune-Albright syndrome (MAS) consists of polyostotic fibrous dysplasia (FD), skin hyperpigmentation (café-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty. Etiology is genetically based and is explained by mosaicism of activating somatic mutations of the alpha-subunit of Gs protein. Clinical presentation is varied and is depend...
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با توجه به جایگاه زبان انگلیسی به عنوان زبانی بین المللی و با در نظر گرفتن این واقعیت که دولت ها و مسئولان آموزش و پرورش در سراسر جهان در حال حاضر احساس نیاز به ایجاد موقعیتی برای کودکان جهت یاد گیری زبان انگلیسی درسنین پایین در مدارس دو زبانه می کنند، تحقیق حاضر با استفاده از مدل swot (قوت ها، ضعف ها، فرصتها و تهدیدها) سعی در ارزیابی مدرسه ای دو زبانه در ایران را دارد. جهت انجام این تحقیق در م...
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Medullary thyroid carcinoma (MTC) is a rare tumor arising from parafollicular C-cells. The oncocytic variant of MTC is an extremely rare diagnosis, with less than 20 cases reported. Here we present the case of a 36-year-old male patient with complaints of neck swelling and dysphagia. On fine needle aspiration cytology (FNAC), a Hürthle cell neoplasm was suggested. Finally with histopathol...
متن کاملA De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.
BACKGROUND Thyroid dysgenesis (TD) is the most frequent cause of congenital hypothyroidism (CH), but its pathogenesis remains unclear. As a thyroid transcription factor, paired box transcription factor 8 (PAX8) is essential for thyroid organogenesis and development. AIM To screen PAX8 mutations and characterize the features of these mutations in Chinese TD patients. MATERIALS AND METHODS Bl...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 2005
ISSN: 0031-3998,1530-0447
DOI: 10.1203/01.pdr.0000161409.04177.36