A novel DICER1 mutation in familial multinodular goitre
نویسندگان
چکیده
منابع مشابه
A retrosternal retrotracheal multinodular goitre.
1 of 2 DESCRIPTION A 58-year-old lady with a history of rheumatoid arthritis on methotrexate therapy was admitted to the intensive care unit for non-invasive ventilation following acute pneumococcal pneumonia. A CT pulmonary angiogram was performed to rule out pulmonary embolus which revealed a retrotracheal mass arising from the thyroid ( fi gure 1 ). MRI scanning was performed subsequently, a...
متن کاملImages in endocrinology: multinodular goitre.
A 78-year-old female patient of countryside arrived to general practitioner (GP) for medial cervical mass with reported slow growing (about 50 years) and recent superficial vein dilatation noted by her daughter. On clinical examination the diagnosis of multinodular goitre visible at distance with extrinsically right innominate vein – superior vena cava compression and subcutaneous collateral ve...
متن کاملA novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report
INTRODUCTION Germ-line mutations in the micro-ribonucleic acid processing gene DICER1 have been shown to predispose to a subset of benign tumors susceptible to malignant transformation, including ovarian Sertoli-Leydig cell tumor, nontoxic multinodular goiter, multilocular cystic nephroma and pleuropulmonary blastoma, which can occur in children and young adults. This may be due to reduced Dcr-...
متن کاملBenign multinodular goitre and reversible
who failed to transmit infection had long relationships in many cases, and their contraceptive or other "safe" practices were no different from those of the couples in whom both partners were infected. This apparent non-infectivity may be an illusion as further testing of seronegative partners may show that they have become infected. It suggests, however, that many subjects who are positive for...
متن کاملMultinodular Goiter in children: an important pointer to a germline DICER1 mutation.
1. Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children; 2. School of Paediatrics and Child Health, University of Western Australia; 3. Department of Pathology, Princess Margaret Hospital for Children; 4. Department of Diagnostic Imaging, Princess Margaret Hospital for Children; 5. Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hos...
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ژورنال
عنوان ژورنال: Clinical Endocrinology
سال: 2018
ISSN: 0300-0664
DOI: 10.1111/cen.13613