کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8627268 1568653 2018 10 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Genetics and management of congenital hypothyroidism
ترجمه فارسی عنوان
ژنتیک و مدیریت کم کاری تیروئید مادرزادی
کلمات کلیدی
کم کاری تیروئید مادرزادی تیروئید، گواتر، توالی نسل بعدی، عوارض بیماری سیستمیک پیشگیری عوارض،
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی علوم غدد
چکیده انگلیسی
Several evidences support a relevant genetic origin for Congenital Hypothyroidism (CH), however familial forms are uncommon. CH can be due to morphogenetic or functional defects and several genes have been originally associated either with thyroid dysgenesis or dyshormonogenesis, with a highly variable expressivity and a frequently incomplete penetrance of the genetic defects. The phenotype-driven genetic analyses rarely yielded positive results in more than 10% of cases, thus raising doubts on the genetic origin of CH. However, more recent unsupervised approaches with systematic Next Generation Sequencing (NGS) analysis revealed the existence of hypomorphic alleles of these candidate genes whose combination can explain a significant portion of CH cases. The co-segregation studies of the hypothyroid phenotype with multiple gene variants in pedigrees confirmed the potential oligogenic origin of CH, which finally represents a suitable explanation for the frequent sporadic occurrence of this disease.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Best Practice & Research Clinical Endocrinology & Metabolism - Volume 32, Issue 4, August 2018, Pages 387-396
نویسندگان
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