ESPE Abstracts

Introduction: Salt wasting is a potentially life-threatening condition in the newborn period. Other than 21 OH-CAH other rarer adrenal causes should be considered in the differential diagnosisObjective: To report the laboratory, clinical features, management and genotype of a series of consecutive patients who showed up at our Center for a salt wasting syndrome in the last 32 years, excluding patients with 21 OH CAH....

Bacground and objective: Idiopathic infantile hypercalcemia is one of rare diseases characterizing hypercalcemia in infancy. Renal phosphate absorption in proximal tubules plays a very important role in the phosphate and calcium homeostasis. SLC34A1 is known a key regulator of renal phosphate reabsorption. SLC34A1 gene mutation is one of very uncommon causes of idiopathic infantile hypercalcemia. We have experienced a case of idiopathic infantile hypercalcemia caused by a homo...

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:</...

Purpose: Small for gestational age(SGA)babies at increased risk of growth retardation. This is very important issues for them but lacks attention. So we hope this study deserves better guidance. The objectives of this paper is to illustrate the importance of this critical issues and to outline growth prognosis at the beginning of adolescence of female and male babies born small for gestational age(SGA) in comparision to controls born appropriate for gestationa...

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: Hypothyroidsim is known to be associated with liver function, cholesterol and some hormone levels including GH. But, there are fewer reports about the gonadotropin levels in thyroid dysfunction.Objectives and hypotheses: We report here some interesting laboratory findings in a 19.24-year-old severe short stature female case of ectopic thyroid.Methods: Laboratory investigations including the combined anterior pituitary f...

Objective: The mechanism underlying postnatal growth failure and catch up growth in small for gestational age (SGA) is poorly understood. This study attempted to identify exosomal miRNA signature associated with catch – up growth in SGA children.Methods: A total sixteen SGA children and 10 appropriate for gestational age (AGA) children included in this study. Exosomal miRNA was analyzed with next generation sequenc...

Purpose: In the diagnosis of central precocious puberty (CPP), the gonadotropin-releasing hormone (GnRH) stimulation test using intravenously injected gonadorelin is the gold standard. However, gonadorelin is not always readily available. In this study, the diagnostic accuracy of a test based on the GnRH agonist triptorelin acetate (triptorelin) was compared to that of the classical gonadorelin-based test in the diagnosis of CPP in girls.<p class="abstext"...

Heterozygous mutations in the ACAN, encoding for aggrecan or cartilage-specific proteoglycan protein, are associated with short stature with advanced skeletal maturation and skeletal dysplasia. A 2 years 7 month-old girl born small for gestational age presented with proportionate short stature (height 79.9 cm, SDS, −3.23) and bone age was delayed about 1year less than her chronologic age. She was born as small for gestational age.(38 weeks and 5 days of gestatio...

Abstract: Background: Makorin ring finger protein 3 (MKRN3) is most common genetic cause of central precocious puberty (CPP) and associated with the initiation of puberty. Although its actual function is veiled. Recent study reported MKRN3 interacted with and suppressed neural pentraxin-1 precursor (NPTX1) activity via polyubiquitination during early puberty in mice.Objective: The aim of this study was t...