先天性甲状腺功能减退症伴遗传性甲状腺素结合球蛋白升高。
Congenital hypothyroidism with hereditary, raised thyroxine binding globulin.
作者信息
Archer L N, O'Malley B P, Swift P G
出版信息
Arch Dis Child. 1985 Aug;60(8):766-8. doi: 10.1136/adc.60.8.766.
Abstract
A boy with congenital hypothyroidism and hereditary raised thyroxine binding globulin is described. This hitherto unreported combination resulted in under treatment of the thyroid deficiency until serum thyroid stimulating hormone measurement became routinely available. Inadequate L-thyroxine replacement treatment between 2 and 7 years of age caused retarded bone maturation, poor growth velocity, and probably added to his educational difficulties.
摘要
本文描述了一名患有先天性甲状腺功能减退症和遗传性甲状腺素结合球蛋白升高的男孩。这种此前未被报道的组合导致甲状腺功能减退的治疗不足，直到血清促甲状腺激素检测常规可用。2至7岁期间左甲状腺素替代治疗不足导致骨骼成熟延迟、生长速度缓慢，并可能加剧了他的学习困难。
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引用本文的文献
1
Congenital hypothyroidism with raised thyroxine binding globulin.先天性甲状腺功能减退症伴甲状腺素结合球蛋白升高。
J R Soc Med. 1988 Dec;81(12):736-7. doi: 10.1177/014107688808101221.
2
Congenital hypothyroidism and partial thyroid hormone unresponsiveness of the pituitary in a patient with congenital thyroxine binding albumin elevation.先天性甲状腺素结合白蛋白升高患者的先天性甲状腺功能减退及垂体对部分甲状腺激素无反应
Eur J Pediatr. 1989 Nov;149(2):90-3. doi: 10.1007/BF01995854.
本文引用的文献
1
Partial thyroxine-binding globulin deficiency in a family.一个家族中的部分甲状腺素结合球蛋白缺乏症
Pediatrics. 1969 Oct;44(4):518-25.
2
[Metabolism of triiodothyronine and thyroxine in a case of thyroxine binding globulin deficiency with hypothyroidism].
Nihon Naibunpi Gakkai Zasshi. 1973 Nov 20;49(11):1354-61. doi: 10.1507/endocrine1927.49.11_1354.
3
Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus.对四个患有遗传性甲状腺素结合球蛋白异常的新家族的研究。单个基因位点的可能突变。
J Clin Invest. 1972 Apr;51(4):848-67. doi: 10.1172/JCI106880.
4
Outcome for congenital hypothyroidism.先天性甲状腺功能减退症的结局
Arch Dis Child. 1985 Jan;60(1):81. doi: 10.1136/adc.60.1.81.
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