Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis

被引:47
作者
Lapi, P
Macchia, PE
Chiovato, L
Biffali, E
Moschini, L
Larizza, D
Baserga, M
Pinchera, A
Fenzi, G
DiLauro, R
机构
[1] STAZ ZOOL ANTON DOHRN, IST ENDOCRINOL, I-80121 NAPLES, ITALY
[2] UNIV PISA, CATTEDRA ENDOCRINOL, PISA, ITALY
[3] UNIV NAPLES FEDERICO II, IST PUERICULTURA, NAPLES, ITALY
[4] UNIV ROMA LA SAPIENZA, IRCCS, POLICLIN SAN MATTEO, PEDIAT CLIN, ROME, ITALY
[5] UNIV PAVIA, FAC MED & CHIRURG CATANZARO, CATTEDRA PEDIAT, I-27100 PAVIA, ITALY
[6] UNIV REGGIO CALABRIA, CALABRIA, ITALY
关键词
D O I
10.1089/thy.1997.7.383
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Permanent congenital hypothyroidism (CH) has an incidence of 1/3000-4000 newborns and is among the most frequent cause of mental retardation and neurological alterations in children. In 80% to 85% of cases CH is associated with thyroid dysgenesis. A group of 61 patients with CH (22 with agenesis, 18 with ectopy, 1 with hypoplasia, and 20 cases with CH without thyroid enlargement but not further characterized) and 30 normal subjects were examined for the presence of mutations in the gene encoding the thyroid transcription factor 1 (TTF-1). The coding-region of the TTF-l gene was analyzed in all cases by the single stranded conformational polymorphism (SSCP) and no mutations were detected. Direct sequencing also carried out in patients with thyroid agenesis confirmed the absence of mutations or polymorphisms in the TTF-1 gene. The absence of mutations in the TTF-1 gene in our samples indicates that the mutations in the TTF-l gene are not a frequent cause of CH.
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收藏
页码:383 / 387
页数:5
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