ESPE Abstracts

Background: KiSS-1 and its product, kisspeptin is necessary for puberty onset and proper adult gonadal function due to its stimulatory effect on the secretion of gonadotropin-releasing hormone (GnRH). Although the pathophysiological importance of KiSS-1 and kisspeptin is well known, the developmental patterns of expression of KiSS-1 genes and serum level of kisspeptin have not been explored to date.Objective and hypotheses: We report herein the expressio...

Neonatal diabetes mellitus (NDM) is a hyperglycemic status usually diagnosed before first 6 months of life, which is caused by monogenic mutations. INS gene mutation is the second most common cause of permanent NDM, causing misfolding of proinsulin and accumulation in the endoplasmic reticulum, leading to apoptosis of the pancreatic beta cells. We report a case of NDM in a 2-month-old girl with a novel heterozygous mutation of the INS gene, and functional studies to confirm th...

Patients with Disorders of sex development (DSD) can present with a large phenotypic spectrum and caused by a number of different genetic defects. Therefore, it is difficult to reach a specific diagnosis using traditional approaches including biochemical analysis and single gene sequencing in a number of patients with DSD. Recently, next-generation sequencing technologies have revolutionized the identification of causative genes with diseases with genetic heterogeneity using m...

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...

Inherited thyroxine binding globulin (TBG) disorder can be identified incidentally or through neonatal screening test. TBG excess is characterized by high levels of thyroxine (T4) but normal level of free T4 (fT4), while TBG deficiency presents with low T4 levels and normal fT4 levels. TBG excess is caused by TBG gene duplication or triplication. A 27 day old newborn was brought to the hospital because of hyperthyroxinemia that was identified through neonatal screenin...

Introduction: Congenital hypothyroidism (CH) is caused by underdeveloped thyroid gland or defect of thyroid hormone synthesis. The prevalence of CH in Korea is 1 per 4,225 people, and DUOX2 mutations were previously known as the most prevalent mutation in Korean patients with CH. This study was performed to identify the correlation between etiology and genetic mutations in patients with CH in a single tertiary hospital.Methods:</...

Background and Aims: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. It is caused by mutations in the ACSF3 gene, which provides instructions for making an enzyme involved in the metabolism of fatty acids. As a result of the enzyme deficiency, individuals with CMAMMA experience an accumulation of malonic and methylmalonic acids in their blood and urine...

Background: Hypotonia–Cystinuria syndrome (HCS), characterized by hypotonia at birth, poor feeding and growth retardation is an autosomal recessive disorder caused by homozygous microdeletions of PREPL and SCL3A genes. Increase in the urinary amino acids including cystine, lysine, arginine, and ornithine is the main laboratory finding.Objective and hypotheses: HCS was described in 17 patients so far and previous reports with favorable responses to G...

Central precocious puberty is more common in girls than boys and over 90% of girls central precocious puberty is idiopathic Pathological causes of central precocious puberty in very young girls include tumors, hydrocephalus, CNS infections, or post-traumatic events Astrocytoma is one of the very rare causes. Pilocytic astrocytomas are usually benign and may be diagnosed before the onset of precocious puberty due to neurological symptoms or be diagnosed for the first time in ch...

Background: With the use of insulin resistance (IR) as a cause of metabolic syndrome (MetS), it is possible to screen the risk group of childhood MetS. Indirect index of IR can be estimated thru homeostasis model assessment (HOMA) of IR. Another index of triglyceride and glucose (TyG) were evaluated and equally effective in some adult studies. However, we do not have consistent prevalence rate and percentile distribution of MOMA-IR and TyG index in children and adolescent popu...