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Thyroid scintigraphy and perchlorate discharge test in the diagnosis of congenital hypothyroidism
Authors:Mahmoud EI-Desouki  Nasir AI-Jurayyan  Abdulrahman AI-Nuaim  Abdullah AI-Herbish  Abdullah Abo-Bakr  Yaqoub AI-Mazrou  Abdulrahman AI-Swailem
Institution:(1) Division of Nuclear Medicine, Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia;(2) Division of Endocrinology, Department of Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia;(3) Division of Endocrinology, Department of Medicine, College of Medicine, King Saud University, Rigadh, Saudi Arabia;(4) Ministry of Health, Riyadh, Saudi Arabia;(5) College of Medicine and King Khalid University Hospital, King Saud University, P.O. Box 7805 (46), 11472 Riyadh, Saudi Arabia
Abstract:Quantitative thyroid scanning using low doses of technetium-99m sodium pertechnetate was performed on 147 infants (55 males and 92 females) with congenital hypothyroidism detected through the national neonatal screening programme. Thirty-two (21.8%) were athyrotic, while 62 (42.2%) had an ectopic thyroid and 53 (36%) had a eutopic gland with increased99mTc uptake (mean 17%; range, 5%-38%). The perchlorate discharge test (PDT) was performed in nine of the infants with ectopic glands and 15 with eutopic glands; the findings were consistent with an organification defect in 22 cases (seven ectopic and 15 eutopic). Thyroid scintigraphy and PDT can add useful aetiological, genetic and prognostic information in the clinical evaluation of infants with congenital hypothyroidism detected by neonatal screening.
Keywords:Congenital hypothyroidism  Thyroid scintigraphy  Perchlorate discharge test
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