Details Of Published TSH Receptor Mutation

sporadic occurrence in 3 non-related children

P1/II/1: De Roux et al.
P2/II/1: Lavard et al.

Tomonaga et al. cardiac failure at birth due to tachycardia
 

P1/II/1: De Roux et al.:
onset: P1/II/1: fetal, premature birth (32.5 weeks)

diagnosis:
P1/II/1: neonatal,
goiter at birth, eyelid retraction, hypertrophy of retroorbital tissue (CT), advanced bone age


P2/II/1:Lavard et al.:
onset: P2/II/1: fetal, premature birth (36 weeks)

diagnosis:
P2/II/1: 7 months,
multinodular goiter at 7yr, regression of staring eyes with control of thyrotoxicosis, learning difficulties, advanced bone age

diagnosis:
III/2: 8 months (index patient), diffuse goiter
III/3: neonatal
II/3: neonatal

III/2: mild facial hypoplasia, advanced bone age, motor and speech delay
III/3: cholestatic jaundice, generalized petechial hemorrhage

III/3,2, II/2: ventriculomegaly, shortening of the 5th metacarpal bones and of the middle phalanges of the 5th finger, advanced bone age, hepatosplenomegaly, exophthalmos, scaphocephaly

*based on 34 hot nodules investigated by Parma et al. 1997, Duprez et al. 1997, Trülzsch et al. 2001, Gozu et al. 2006, Georgopulos et al. 2003, Vanvooren et al. 2002, Kraemer et al. 2009, Paloz-Paz et al. 2009 and Nishihara et al. 2009
and 3 sporadic activating germline mutations investgated by de Roux et al. 1996 and Lavard et al. 1999
and Tomonga et al 2018 and 1 familial activating germline mutation investigated by Supornsilchai et al. 2009
and 1 hot thyroid carcinoma investigated by Mircescu et al. 2000 

P1/II/1: De Roux et al:
antithyroid drugs, L-T4







P2/II/1: Lavard et al.:
antithyroid drugs ineffective, subtotal TE at 9yr, repeated radioiodine from 9.5-13yr for treatment of toxic multinodular goiter