1. Contribution of genetic factors to neonatal transient hypothyroidism
- Author
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Liao Cj, Lin Cy, Niu Dm, Wu Jy, Jap Ts, and Hwang B
- Subjects
Male ,medicine.medical_specialty ,endocrine system ,Heterozygote ,endocrine system diseases ,Taiwan ,Thyroid Gland ,Iodide Peroxidase ,Neonatal Screening ,Asian People ,Hypothyroidism ,Thyroid peroxidase ,Internal medicine ,Medicine ,Humans ,Genetic Predisposition to Disease ,Goitrogen ,Allele ,biology ,business.industry ,Thyroid disease ,Thyroid ,Case-control study ,Infant, Newborn ,Obstetrics and Gynecology ,General Medicine ,medicine.disease ,Iodine deficiency ,medicine.anatomical_structure ,Endocrinology ,Case-Control Studies ,Pediatrics, Perinatology and Child Health ,Mutation (genetic algorithm) ,Mutation ,biology.protein ,Original Article ,Female ,business - Abstract
Background: The causes of neonatal transient hypothyroidism (NTH) remain incompletely understood. Whether it is influenced by genetic background is rarely discussed and remains unproven. A defect in thyroid peroxidase is a common cause of dyshormonogenesis of the thyroid gland in Taiwanese, with a novel mutation (2268insT) present in nearly 90% of alleles studied. Objective: To determine if the presence of this common mutation is associated with NTH in Taiwan. Methods: A mismatched primer was designed and used for this specific 2268insT mutation to screen 1000 normal babies and 260 babies with confirmed NTH. Results: The carrier rate for 2268insT in normal babies (1/200) was significantly lower than in babies with NTH (1/13; p
- Published
- 2005