Detecting Congenital Central Hypothyroidism by Newborn Screening: Difficulty in Distinguishing from Congenital Thyroxine-Binding Globulin Deficiency
Sign Up to like & getrecommendations! Published in 2017 at "Hormone Research in Paediatrics"
DOI: 10.1159/000479367
Abstract: Background/Aims: Congenital central hypothyroidism (CH-C) can be detected on newborn screening (NBS) by programs using thyroxine (T4)-reflex thyroid-stimulating hormone (TSH) test approach. CH-C must be distinguished from T4-binding globulin (TBG) deficiency. We sought to determine… read more here.
Keywords: central hypothyroidism; congenital central; binding globulin; tbg deficiency ... See more keywords
Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea
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DOI: 10.3803/enm.2022.1591
Abstract: Background Thyroxine-binding globulin (TBG) is a major transporter protein for thyroid hormones. The serpin family A member 7 (SERPINA7) gene codes for TBG, and mutations of the SERPINA7 gene result in TBG deficiency. Although more… read more here.
Keywords: serpina7 gene; endocrinology; tbg deficiency; mutation ... See more keywords