Department of Endocrinology, Medwin Hospital, Hyderabad, India.
Indian J Pediatr. 2010 Jan;77(1):94-6. doi: 10.1007/s12098-009-0248-1.
A 15-mth-old male child of consanguineous parents, presented with classical features of congenital hypothyroidism. Serum total thyroxine (T4), total triiodothyronine (T3) and TSH were low. There was no evidence of deficiency of other pituitary hormones. Magnetic resonance imaging of the pituitary was normal. TSHB gene sequencing revealed a homozygous missense mutation due to single base substitution G?A at codon 85 resulting in change from Glycine to Arginine. This mutation in TSHB gene has been reported earlier in three cases with similar phenotype from Japan.
一位 15 个月大的男性儿童，其父母为近亲，具有先天性甲状腺功能减退症的典型特征。血清总甲状腺素（T4）、总三碘甲状腺原氨酸（T3）和 TSH 水平降低。其他垂体激素缺乏的证据。垂体磁共振成像正常。TSHB 基因测序显示由于密码子 85 处单个碱基取代 G→A 导致甘氨酸变为精氨酸的纯合错义突变。该 TSHB 基因突变先前已在来自日本的三例具有类似表型的病例中报道过。
