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...

Objective: The mechanism underlying postnatal growth failure and catch up growth in small for gestational age (SGA) is poorly understood. This study attempted to identify exosomal miRNA signature associated with catch – up growth in SGA children.Methods: A total sixteen SGA children and 10 appropriate for gestational age (AGA) children included in this study. Exosomal miRNA was analyzed with next generation sequenc...

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...

Background: Familial precocious puberty is defined by the existence of more than one affected member either in the proband generation or in the pedigree. Recently, several gene mutation cause familial CPP is elucidated, gain of function mutations in KISS1 and KISS1R, loss of function mutations in the MKRN3, the feature of familial precocious puberty is not fully understood.Objective: To investigate the clinical characteristics of familial precocious pube...