ESPE Abstracts

Background: Epidemiological studies have shown associations between placental weight (PW) and perinatal and postnatal linear growth and weight gain.Objectives: To report trimmed placental weight (PWT) and evaluate their association with birth weight (BWT), and gestational age (GA) in a large cohort of mother/ baby pairs in Qatar. (n= 80722).Methods: Retrospective data anal...

Background: We investigated the relationship of birth anthropometry with cord blood insulin-like growth factor 1 (IGF-1) and leptin levels in Korean infants born at ≥28 weeks' gestation.Methods: One hundred five appropriate-for-gestational-age (AGA) infants, defined as infants with birth weights (BWs) between the 10th and 90th percentiles for gestational age, were enrolled. Enrolled infants were stratified into...

Introduction: Small size at birth is only a proxy for the pathological process of intrauterine growth restriction.Aim: To study the effect of different birth weights on postnatal growth.Method: We studied the linear growth of 59 infants who were born preterm (GA = 33.5 +/- 2.2 weeks) with birth weight >1.5 < 2.5 kg) for two years. They were classified at birth into two groups...

Background & Aims: Although, there has been reports demonstrating association between adult-onset hypopituitarism and development of nonalcoholic fatty liver disease (NAFLD), studies are lacking regarding the development of NAFLD in children and young adult with childhood-onset hypopituitarism. We aimed to identify association between NAFLD and hypopituitarism in these patients.Methods: 76 Korean children and young a...

Background: Congenital adrenal hyperplasia (CAH), mostly caused by 21-hydroxylase deficiency, is autosomal recessive disorder characterized by impaired cortisol synthesis. It can be presented with a combination of aldosterone and cortisol deficiency and androgen excess. Therefore, excess production of androgen and glucocorticoid replacement can result to early bone maturation and ultimately diminished adult height (AH).Objectives...

The syndrome of resistance to thyroid hormone (RTH) is caused by decreased tissue responsiveness to thyroid hormone. With the exception, inheritance of RTH is autosomal dominant. The receptors are encoded by two genes (THRA and THRB), each of which undergoes alternate splicing to generate receptor subtypes (TRa1, TRβ1, and TRβ2), with differing tissue distributions.Here we describe a child with novel heterozygous mutations for THRB. Nine-months-old ...

Background: Rodent models of leptin inactivity show progressive obesity due to exaggerated food intake. In humans, only rare monogenic cases of leptin deficiency and almost absent circulating leptin levels have been identified. Recently, two cases of children with early onset massive obesity due to biofunctionally inactive leptin in the face of normal total levels have been identified.Objective and hypotheses: Here we aimed to identify leptin inactivity ...

Hypophosphatasia (HPP) is a genetic skeletal disease caused by loss-of-function mutations of ALPL encoding tissue-nonspecific alkaline phosphatase (TNSALP). The clinical presentation of HPP varies greatly, ranging from stillbirth without bone mineralization to findings in later life, such as delayed walking, short stature, skeletal deformities, bone pain, and pathologic fractures. The diagnosis is based on clinical examination, radiographic findings, biochemical parameters of ...

Purpose: Pheochromocytoma (PCC) and paraganglioma (PGL) (PPGL) are rare neuroendocrine tumors, and there is little information on how to treat them in children and adolescents. The objective of this study was to demonstrate the clinical presentation and treatment outcomes in children and adolescents with PPGL in a single Korean tertiary care hospital.Methods: Korean patients diagnosed with PCC and PGL before the age of 2...

Background/purpose: Graves’ disease (GD) is an autoimmune disorder characterized by hyperthyroidism, diffuse goiter, and/or ophthalmopathy that is caused by the activation of the thyroid-stimulating hormone (TSH) receptor by thyrotropin receptor antibodies (TRAb). GD is the most common cause of thyrotoxicosis in children and adolescents, accounting for 10-15% of all thyroid illness in children and adolescents. The treatment of GD in children and adolesce...