ESPE Abstracts

Mutations in the selenocysteine insertion sequence binding protein 2 gene (SECISBP2 also known as SBP2) result in a multisystemic disorder. A 4-year-old Korean girl presented with atypical thyroid function test result, characterized by normal TSH 2.13 μIU/mL, decreased T3 0.51 ng/mL, free T3(FT3) 1.71 (pg/mL), and elevated free thyroxine (FT4) 4.28 ng/dL. Additionally, she exhibited short stature below 2 standard deviations and delayed bone age. She has not yet begun speaki...

Thyroid hormone resistance (RTH) is characterized by a decreased sensitivity of target tissues to thyroid hormones due to a defect in the THRα - and THRβ -encoded thyroid hormone receptors (THRs). The clinical manifestations range from no symptoms to simple goiter and hypo- or hyperthyroidism, depending on the receptor subtype distribution in the tissues. Here, we report a case of a thyroid hormone-resistance occurring in a 2- year-old boy carrying...

Background: Idiopathic short stature (ISS) is defined as short stature of unknown origin. It is apparently not associated with GH deficiency (GHD). High-dose GH treatment is considered to be more beneficial in children with ISS than in those with GHD. However, responses to GH in children with ISS are highly variable and dose-dependent, and the optimal treatment is controversial.Aims: To compare the effects of low-dose GH treatment in children with GHD vs...