Sporadic occurrence in 2 non related children Chester et al., Kinjo et al.
(Chester et al.):
P2/II/2: 2 months, premature birth (34 weeks)
P2/II/2: 4 months
tachycardia, tachypnea, craniosynostosis, staring eyes, advanced bone age, diffuse goiter
at 8 months: obstructive sleep apnea, midface hypoplasia, dolichocephaly, laryngomalacia
Kinjo et al.
hyperthyroidism with advanced bone age, irritability and tachychardia
P2/II/2(Chester et al.):
potassium iodide, propranolol, PTU, L-T4, clinically euthyroid after 4 months of treatment
Kinjo et al. treated with methimazole
cAMP (basal): basal in vitro cAMP production of mutant over wild-type TSHR
cAMP (TSH): maximal in vitro cAMP production of mutant over wild-type TSHR
IP (basal): basal in vitro IP production of mutant over wild-type TSHR
IP (TSH): maximal in vitro IP production of mutant over wild-type TSHR
TSH-binding: maximal TSH-binding compared to the wild-type TSHR
Cell surface expression: cell surface expression of mutant compared to WT-TSHR
LRA: linear regression analysis (LRA) of constitutive activity as a function of TSHR expression determined by 125I-bTSH binding or FACS analysis compared to the wild-type TSHR
Prevalence: Prevalence of (somatic and germline) activating mutations*
Ref: Reference for functional characterization
Child: Found in children.