ESPE Abstracts

Objective: Congenital hypothyroidism; currently, it is one of the most common causes of preventable mental retardation in children. Thyroid dysgenesis, thyroid hormone production and efficacy disorders or temporary hypothyroidism can be seen with the tables. In this study; The aim of this study was to evaluate the etiology and prognosis of congenital hypothyroid patients guided by national screening and neonatal centers. In this way; Our aim is to produce the ...

Background: Endocrine-disruptor compounds (EDCs) like phthalates and bisphenol A (BPA) can have long term effect on children's physical growth. Studies have reported that effect of EDCs exposure on concurrent physical parameters like weight. But there is a knowledge gap with regards to long term effects of EDCs exposure on children's physical growth. Thus, in this study we evaluated the prenatal exposure of EDCs: BPA and phthalates and their influence ...

Background: The X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28. This disease is characterized by progressive neurologic dysfunction, and occasionally associated with adrenal insufficiency. The estimated frequency is about 1:42000 in male, whereas the estimated frequency for heterozygous women is 1:14000. There was no correlation between genotype and phenotype of X-ALD patients....

Background and objectives: A positive association between birth weight and BMI among children and adolescents has been shown in many populations. Several studies have indicated that breastfed children have lower risk of childhood obesity. Therefore, the aim of this study was to investigate the BMI trajectory according to birth weight status and protective effect of breastfeeding on overweight/obesity prevalence in children 6 years of age.Methods: A retro...

Background: There is a link between congenital hypothyroidism (CH) and neurodevelopmental abnormalities, but no longitudinal studies have yet identified reliable quantifiable measures.Purpose: To evaluate associations between CH and abnormalities in neurodevelopment and growth, and identify the timing of these abnormalities and the best time for intervention.Methods: Data from the ...

Backgrounds and Aims: Several previous studies have suggested an association between exposure to air pollution and thyroid hormone levels. But epidemiological evidence on the association between fine particulate matter (PM2.5) and onset of autoimmune thyroid diseases (AITD) in children and adolescents is scarce. This study aimed to identify the association between long-term exposure PM2.5 and onset of AITD in children and adolescents of S...

Kenny-Caffey syndrome type 2 (KCS 2) is an extremely rare autosomal dominant genetic disorder characterized by proportionate short stature, hypoparathyroidism, skeletal dysplasia and facial deformities. It is caused by variants in FAM111A gene. The clinical manifestations of KCS2 are atypical and diverse. We present two cases with KCS 2 with short stature, skeletal deformities and eye abnormalities confirmed by genetic analysis. The first patient came to our hospital ...

Background: Central precocious puberty (CPP) presents a clinical challenge due to early physical development and the potential for a reduction in final height, which may lead to psychosocial issues. The most common etiology of central precocious puberty among girls is idiopathic central precocious puberty, while among boys, neurogenic central precocious puberty and congenital adrenal hyperplasia (CAH) are more prevalent. Gonadotropin-releasing hormone analogs ...

Pheochromocytoma (PCC) is a rare tumor arising from the adrenal medulla as well as extra-adrenal paraganglion system and secreting catecholamines causing severe hypertension in children. The gold standard for diagnosis is the measurement of free plasma levels of metanephrines while management evaluates the location and size of the tumor and possible metastatic lesions. Preoperative treatment with alpha blockers, beta blockers and tyrosine hydroxylase inhibitors improves safety...

Objectives: Type one diabetes mellitus (T1DM) is an autoimmune disorder that is yet the most common type of diabetes in children and adolescents. Therefore, children and adolescents with T1DM are at increased risk for developing other autoimmune diseases including Graves’ disease. Detection of thyroid abnormalities in children is crucial since thyroid dysfunction can affect growth, pubertal maturation, insulin metabolism and gastrointestinal function. Herein, we reported ...