RT Journal Article
SR Electronic
T1 Familial hypothyroidism with autosomal dominant inheritance.
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 245
OP 246
DO 10.1136/adc.75.3.245
VO 75
IS 3
A1 M Mimouni
A1 A Mimouni-Bloch
A1 J Schachter
A1 M Shohat
YR 1996
UL http://adc.bmj.com/content/75/3/245.abstract
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.