DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis
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منابع مشابه
Congenital thyroid hemiagenesis with multinodular goiter
Thyroid hemiagenesis is a rare form of thyroid dysgenesis characterized by an absence of half of the thyroid gland. Developmental hemi-thyroid anomalies can result from either an abnormal descent or an agenesis of one lobe of the thyroid gland. We report a case of a 40-year-old woman with history of a longstanding gradually progressive thyroid swelling without any complication. An ultrasonograp...
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A 45-year-old female presented with symptoms of hyperthyroidism and hot nodules in the right lobe, which was diagnosed as nodular goiter by fine-needle aspiration. An anomalous thyroidectomy and difficult dissection with multiple rotations were performed around the trachea. As a remark, the pathology confirmed the presence of goiter with modular nodules (Figure 1). A macroscopic photograph show...
متن کاملThyroid carcinoma in multinodular goiter
Background: It is suggested that hyperthyroidism protects against thyroid malignancy. It was suggested that the incidence of malignancy is lower in toxic multinodular goiters than in non-toxic multinodular goiters. Recent studies show controversies. Material and methods: The aim of this study is to determine the incidence and type of thyroid carcinoma in toxic and nontoxic multinodular goiter i...
متن کاملORIGINAL CONTRIBUTION DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors
Thomas Rio Frio, PhD Amin Bahubeshi, BSc Chryssa Kanellopoulou, PhD Nancy Hamel, MSc Marek Niedziela, MD, PhD Nelly Sabbaghian, MSc Carly Pouchet, MSc Lucy Gilbert, MD, MSc Paul K. O’Brien, MB Kim Serfas, MSc Peter Broderick, PhD Richard S. Houlston, MD, PhD Fabienne Lesueur, PhD Elena Bonora, PhD Stefan Muljo, PhD R. Neil Schimke, MD Dorothée Bouron-Dal Soglio, MD, PhD Jocelyne Arseneau, MD Kr...
متن کاملDICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.
CONTEXT Nontoxic multinodular goiter (MNG) is frequently observed in the general population, but little is known about the underlying genetic susceptibility to this disease. Familial cases of MNG have been reported, and published reports describe 5 families that also contain at least 1 individual with a Sertoli-Leydig cell tumor of the ovary (SLCT). Germline mutations in DICER1, a gene that cod...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2020
ISSN: 0021-9738,1558-8238
DOI: 10.1172/jci130206