Session: SUN 596-623-Case Reports: Pediatric Endocrinology & Metabolism
Poster Board SUN-619
Case 1: The boy was born after 40 weeks of gestation by normal vaginal delivery from nonconsanguineous parents. There were no abnormal physical findings including goiter. Neonatal mass screening at 5 days of age showed elevated TSH (120 μU/ml). Further investigation showed that his serum TSH was 256.8 μU/ml and T4 was 4.3 μg/dl. L-T4 replacement therapy was initiated immediately. During follow up, a small goiter was noticed at 2 years of age.
Case 2: The boy was born after 38 weeks of gestation by normal vaginal delivery from nonconsanguineous parents. Neonatal mass screening at 5 days of age demonstrated elevated TSH (above 72.1 μU/ml) level and low freeT4 (0.35 ng/dl). Further evaluation showed that he had diffuse goiter and his serum TSH was 854.83 μU/ml and free T4 was 0.37 ng/dl, L-T4 replacement therapy was initiated immediately.
Results: Sequence analysis of the TPO gene demonstrated two novel mutations. Two compound heterozygous mutations were found in case 1: a missense mutation at c.1132G>A (p.E378K) and a 10 base deletion of intron 15- exon 16 boundary. In case 2, a homozygous missense mutation of p.E378K was identified.
Conclusions: We identified two novel mutations of the TPO gene in two Japanese patients with CH.
Nothing to Disclose: KI, AN, SN, TH, TT
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