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本文引用的文献

1
Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.简短报告：促甲状腺激素受体基因突变导致对促甲状腺激素的抵抗
N Engl J Med. 1995 Jan 19;332(3):155-60. doi: 10.1056/NEJM199501193320305.
2
Hereditary congenital nongoitrous hypothyroidism.遗传性先天性非甲状腺肿性甲状腺功能减退症
Am J Dis Child. 1981 Jun;135(6):568-9. doi: 10.1001/archpedi.1981.02130300066023.
3
Evaluation of the rat thyroid cell strain FRTL-5 as an in-vitro bioassay system for thyrotrophin.评估大鼠甲状腺细胞系FRTL-5作为促甲状腺激素的体外生物测定系统。
J Endocrinol. 1984 Jun;101(3):269-76. doi: 10.1677/joe.0.1010269.
4
Congenital hypothyroidism associated with thyrotropin unresponsiveness and thyroid cell membrane alterations.与促甲状腺激素无反应性及甲状腺细胞膜改变相关的先天性甲状腺功能减退症。
J Clin Endocrinol Metab. 1980 May;50(5):932-7. doi: 10.1210/jcem-50-5-932.
5
Congenital hypothyroidism with impaired thyroid response to thyrotropin.
N Engl J Med. 1968 Nov 21;279(21):1132-6. doi: 10.1056/NEJM196811212792103.
6
Assignment of the human thyroid stimulating hormone receptor (TSHR) gene to chromosome 14q31.人类促甲状腺激素受体（TSHR）基因定位于14号染色体长臂31区。
Genomics. 1990 Oct;8(2):233-6. doi: 10.1016/0888-7543(90)90276-z.
7
Imparied cyclic-AMP response to thyrotrophin in congenital hypothyroidism with thyroglobulin deficiency.先天性甲状腺功能减退症伴甲状腺球蛋白缺乏时，对促甲状腺素的环磷酸腺苷反应受损。
Acta Endocrinol (Copenh). 1979 Sep;92(1):62-72. doi: 10.1530/acta.0.0920062.

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.

DOI:10.1136/adc.75.3.245
PMID:8976668
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1511699/
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。