ESPE Abstracts

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: 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...

Turner syndrome is the most common chromosomal disorder in girls. They present classically short stature and delayed puberty. Turner girls with 45,X karyotype show normal female external genitalia. But Turner patients containing 45,X/46,XY mosaicism, or Sex-determining Region Y(SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation or pure gonadal dysgenesis. Existence of Y chromosome particles in Turner syndrome implies that they have risk of...

Purpose: Reported changes in BMI in central precocious puberty (CPP) during and after gonadotropin-releasing hormone analog (GnRHa) treatment are inconsistent. We, therefore, investigated auxological parameters in GnRHa-treated girls with idiopathic CPP (ICPP) until attainment of near final height (NFH).Methods: From the medical records of 59 ICPP girls who attained NFH after GnRHa therapy, auxological changes were compared between overweight (BMI &#8805...

Background: Massive pericardial effusion is uncommon complication of acquired hypothyroidism in children, and prompt drainage should be performed for impending tamponade. Thyroxine supplementation improves all clinical signs except profound growth failure, resulting poor catch-up growth.Case presentation: 9 years 11month old girl was brought to emergency room with sudden worsening dyspnea for 1 day. Previously healthy girl showed weight increase of 10 kg...

Background: A 3-year-old boy appeared healthy at birth and did not experience any fractures until 12 months of age. Blue sclera, frequent fractures without adequate trauma, nearly normal stature, the absence of dentinogenesis imperfecta, no bony deformity, and no limitation of mobility were characteristics suggestive of OI type I that were observed in the patient. The patient’s mother had blue sclera and a history of frequent fracture episodes until the age of 15 years.</...

Background: The use of GnRHa in central precocious puberty is known to slow puberty progression, subsequently prevent early menarche, and attenuate the height loss by advanced skeletal maturation. But enhancing the final height was so controversial that an additional approach has been used.Objective and hypotheses: To investigate the age of menarche, and the height outcomes in central precocious girls treated with GnRHa (n=61) or combined GH (<e...