常染色体显性遗传的家族性甲状腺功能减退症。
Familial hypothyroidism with autosomal dominant inheritance.
作者信息
Mimouni M, Mimouni-Bloch A, Schachter J, Shohat M
机构信息
Schneider Children's Medical Centre of Israel, Petah Tiqva, Israel.
出版信息
Arch Dis Child. 1996 Sep;75(3):245-6. doi: 10.1136/adc.75.3.245.
Abstract
Three generations of a family with clinical and subclinical hypothyroidism caused by thyroid stimulating hormone (TSH) unresponsiveness are described. Findings were low to normal serum thyroxine, raised serum TSH, and low radioiodine uptake; goitre was notably absent. This family is the first evidence of an autosomal dominant mode of transmission of TSH unresponsiveness and may enable identification of the precise defect by genetic linkage study.
摘要
本文描述了一个家族三代人患有由促甲状腺激素（TSH）无反应性导致的临床和亚临床甲状腺功能减退症。研究结果显示血清甲状腺素水平低至正常、血清TSH升高以及放射性碘摄取率低；明显没有甲状腺肿。这个家族是TSH无反应性常染色体显性遗传模式的首个证据，可能有助于通过基因连锁研究确定确切的缺陷。
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