ESPE Abstracts

Background: Noonan syndrome is autosomal dominantly inherited disease with an incidence of 1:1000 to 1:2500 newborns. It is caused by different gene mutations involved in the RAS/MAP kinase signaling pathway in the cells. Phenotype including expression of dysmorphic features and visceral organ affection is variable. Different gene mutations are found in approximately 60–70% of tested patients.Objective and hypotheses: To report mutational analysis i...

Background: Links between early life exposures and long-term health outcomes may in part be due to nutritional programming, and suggested benefits of breast feeding during infancy include reduced risk of obesity and metabolic disease. Mechanisms remain unexplained but potential differences in lipid exposures during infancy may be involved.Objective and hypotheses: To explore the effects of breast- or formula-feeding on lipidomic profiles we used recently...

Introduction: Noonan syndrome (NS) and Turner syndrome (TS) are distinct genetic disorders with similarities in phenotype, including short stature. The NordiNet® IOS and the ANSWER Program® are observational studies evaluating effectiveness and safety of GH treatment in real-world practice.Methods: The study population included children with NS or TS with puberty recordings, enrolled in NordiNet® IOS or ANS...

The CYP19A1 gene product cP450aromatase enzyme is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues; placenta and gonads are being the leading tissues. cP450aromatase deficiency has important effects on clinical phenotype due to excessive amount of androgen accumulation and insufficient estrogen synthesis in the pre- and postnatal periods. We identified a new point mutation in the CYP19A1 gene causing aromatase deficiency in three Turkish fam...

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: The incidence of type 1 diabetes mellitus (T1DM) in children and adolescents has increased worldwide. However, the epidemiology of T1DM among Korean children has not been reported since 2001.Objective and hypotheses: We therefore investigated the incidence of T1DM in Korean children and adolescents in 2012–2013 and compared it with data from 1995–2000.Method: Data were obtained from the National Health Insuran...

Background: There have been reports that patients with diabetes have hearing loss greater than those without. Suggested pathogenesis for diabetes-associated hearing loss has included cochlear microangiopathy, hyperglycaemia of cerebrospinal fluid, auditory neuropathy and diabetic encephalopathy.Objective and hypotheses: This study is aimed to investigate hearing changes in children and adolescents with type 1 diabetes mellitus and to examine if hearing c...

Background: Serum FGF-21 levels are increased in adults with obesity, type 2 diabetes and nonalcoholic fatty liver disease (NAFLD). Serum FGF-21 levels have been implicated as a potential biomarker for early detection of the metabolic syndrome (MetS) and type 2 diabetes in adults. However, there are only a few studies about the correlation between FGF-21 levels and metabolic parameters in children.Aims and objective: This study is aimed to evaluate the r...

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: Precocious puberty is one of the fastest-growing paediatric diseases in South Korea. As the UCC (User Created Contents) has provided lots of medical information, it becomes an easy and important source of medical information.Objective and hypotheses: This study aimed to investigate and to evaluate the quality and scientific accuracy of precocious puberty-related UCC on Youtube.Method: The key words ‘precocious pube...