- 期刊
新生兒篩檢中誤失的先天性甲狀腺功能低下症：二病例報告
Congenital Hypothyroidism Missed on Newborn Screening: Report of two Cases
摘要
二位在馬偕醫院出生的足月兒，三天大時，均接受新生兒篩檢（包括苯酮尿症，高胱胺酸尿症，半乳糖血症，先天性甲狀腺功能低下症及葡萄糖六磷酸脫氫酶低下症等五項），結果顯示正常。不過，隨後病例一逐漸出現延遲性黃疸、餵食困難及體重增加緩慢等症狀；而病例二則因痙攣入院，在不知已經作過新生兒篩檢的情況下，於七天大時重作了篩檢，結果TSH值略爲偏高(11.6mU/1)。於是兩個病例在滿月時都接受了複檢並作了血清確認檢查，結果顯示例一及例二的TSH濃度（mU/1）分別爲373.6及37.09，有明顯升高的情形，而T4分別爲2.87μg/dl及4.59μg/dl，有偏低的情形，而證實爲甲促素延遲上升型先天性甲狀腺功能低下症。
關鍵字
無資料並列摘要
Two male term babies were born at Mackay Memorial Hospital; both were born without incident. Newborn screenings (including phenylketonuria, homocystinuria, galactosemia, congenital hypothyroidism and G-6-PD deficiency) were performed at the age of three days and judged to be normal. In the later neonatal period, case 1 gradually developed prolonged jaundice, poor feeding and poor weight gain. The rechecked thyroid stimulating hormone (TSH) level was 276.3 mU/l. Case 2 was admitted with seizures; the TSH level, rechecked by chance, showing 11.6 mU/l. Under the suspicion of congenital hypothyroidism, serum confirmation tests were performed and showed TSH 393.6 mU/l, 37.09 mU/l and T4 2.87 μg/dl, 4,59μg/dl, respectively. The diagnosis was, thus, congenital hypothyroidism with delayed rise in TSH level. The conclusion is that, regardless of the result of newborn screening, a serum confirmation test (T4 & TSF level) should be done in any infant who is suspected to have congenital hypothyroidism.