TY - JOUR
T1 - Familial hypothyroidism with autosomal dominant inheritance
AU - Mimouni, M.
AU - Mimouni-Bloch, A.
AU - Schachter, J.
AU - Shohat, M.
PY - 1996
Y1 - 1996
N2 - 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.
AB - 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.
KW - Non-goitrous hypothyroidism
KW - Thyroid stimulating hormone unresponsiveness
UR - http://www.scopus.com/inward/record.url?scp=0029828429&partnerID=8YFLogxK
U2 - 10.1136/adc.75.3.245
DO - 10.1136/adc.75.3.245
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AN - SCOPUS:0029828429
VL - 75
SP - 245
EP - 246
JO - Archives of Disease in Childhood
JF - Archives of Disease in Childhood
SN - 0003-9888
IS - 3
ER -