ESPE Abstracts

Background: Congenital hypothyroidism (CH) is one of most common endocrine disease in childhood. If unteated, it is one of the leading causes of childhood intellectual disability. CH can be permanent, or can be transient in which thyroid function is spontaneously recovered. It is also known that among children with congenital hypothyroidism, the proportion of transient cases is higher in preterm than in full term babies. But there are few, if any, large studies which evaluated...

Introduction: Thyroid hormone is known as greatly influence on growth and development in fetuses and newborns. If the detection of the disease is delayed, hypothyroidism can cause irreversible damage, so early detection and treatment is very important. Hypothyroidism can be divided into permanent and temporary cases depending on the duration of treatment, but there is no predictor that can completely differentiate those two. However, as genes related to hypoth...

Objectives: Monogenic diabetes and congenital hyperinsulinism (CHI) and are common disorders of glucose-regulated insulin secretion in childhood, with 13 causative genes known for MODY and 10 causative genes identified for CHI. Genetic testing for monogenic diabetes and CHI is important for patient care. We aimed to delineate genetic and clinical manifestations of monogenic diabetes and CHI diagnosed by targeted-exome sequencing (TES).Methods: Nine proba...

Background: Achondroplasia is the most common condition characterized by disproportionate short stature. Patients with achondroplasia progressively fall below normal standards for length and height. GH has been widely used to treat short stature with or without GH deficiency (GHD).Objective and hypotheses: The purpose of the present study was to clarify the effectiveness of GH therapy on short stature in achondroplasia.Method: The ...

Background: Transient elastography (TE) uses pulsed echo ultrasound to measure the hardness of the liver, showing excellent accuracy in the assessment of fibrosis, and is considered a useful test in nonalcoholic fatty liver disease (NAFLD). Ultrasound fatty liver indicator (US-FLI) is proposed as a non-invasive, semi-quantitative method for predicting hepatitis in children with NAFLD and may reflect the severity of liver histological changes. US-FLI ≥4 or 6...

Background: Insulin resistance, non-alcoholic fatty liver disease (NAFLD), and metabolic syndrome (MetS) are strongly correlated with each other. Triglyceride and glucose (TyG) index, a simple and useful insulin resistance surrogate marker, has recently been reported to be superior in predicting NAFLD in adults.Objects: We evaluated the usefulness of TyG–alanine aminotransferase (ALT) for detecting NAFLD and compar...

Background: Triglyceride glucose (TyG) index is known as a reliable insulin resistance surrogate marker to identify non-alcoholic fatty liver disease (NAFLD). Ultrasound fatty liver indicator (US-FLI) is proposed as a non-invasive, semi-quantitative method for predicting hepatitis in children with NAFLD and may reflect the severity of liver histological changes. US-FLI ≥4 has been suggested as a predictive finding for severe NASH. US-FLI correlates signific...

Background: The triglyceride glucose (TyG) index is significantly associated with the presence of nonalcoholic fatty liver disease (NAFLD) and is a reliable insulin resistance (IR) surrogate marker. Alanine aminotransferase (ALT) has been commonly used to reflect liver inflammation and liver damage in patients with chronic liver diseases, including NAFLD. Transient elastography (TE) uses pulsed echo ultrasound to measure the hardness of the liver, showing exce...

Background: Klotho is an anti-aging protein acting as a circulating hormone. Major physiologic activities attributed to klotho include regulation of phosphate and calcium homeostasis, aging, adipogenesis, and glucose metabolism. Pubertal children had higher klotho than prepubertal. Insulin like growth factor-1 (IGF-1) directly promotes klotho shedding. Klotho levels significantly correlated with IGF-1 standard deviation scores (SDS).<str...

Objectives: Hypophosphatasia (HP) is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without a mineralized bone to early loss of teeth without bone symptoms. We aimed to report a patient with HP presenting with fibrous dysplasia.Methods:</st...