ESPE Abstracts

Objectives: Hypophosphatasia (HP) is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without a mineralized bone to early loss of teeth without bone symptoms. We aimed to report a patient with HP presenting with fibrous dysplasia.Methods:</st...

Objectives: Diabetic ketoacidosis (DKA) and hyperosmolar hyperglycemic state (HHS) are potential life-threatening emergencies of diabetes mellitus (DM). DKA and HHS may coexist, making the treatment difficult. With increasing rates of childhood obesity and pediatric type 2 DM, cases of mixed HHS and DKA are expected to occur more frequently than before. But the frequency and implications of combined DKA/HHS in children/adolescents are not yet well known. We ai...

IGFALSgene is located in chromosome 16p13.3 encoding acid labile subunit which binds insulin-like growth factors (IGFs) to increase their half-life and vascular localization. The biallelic defect of this gene leads to acid-labile subunit deficiency characterized by postnatal growth retardation, insulin resistance, delayed puberty, and no growth hormone deficiency. A 5-year-old-boy was referred to as low IGF-1 and cortisol level. He presented with obesity and growth re...

Background: Experimental models suggest that exposure to low dose nonylphenol could induce adiposity and promote adipocyte differentiation in mice. However, studies on the effect of nonylphenol exposure to human obesity have not been adequately studied.Objective: We investigated the associations of serum nonylphenol concentration with adiposity measures in Korean children and adolescents.Me...

Introduction: C-type natriuretic peptide (CNP, NPPC gene) and its receptor, natriuretic peptide receptor B (NPR-B, NPR2 gene), is critical for endochondral ossification in growth plate. Biallelic NPR2 mutations are known as acromesomelic dysplasia, type Maroteaux which is characterized by severe short stature. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth.Obje...

Purpose: Central precocious puberty (CPP) is less common in boys than girls; very little data is reported on long-term effects of gonadotropin-releasing hormone analog (GnRHa) treatment in boys with CPP. The aim of the study was to evaluate the impact of treatment with GnRHa on adult height (AH) and body mass index (BMI) in boys with idiopathic CPP.Subjects and Methods: In 18 boys with confirmed diagnosis of idiopathic C...

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...

Objectives: Obesity is a well-known risk factor for central precocious puberty (CPP). Recently, elevated thyroid stimulating hormone (TSH) were reported in obese youth. However, few data regarding the relationship between CPP and TSH are available. The aim of this study was to evaluate thyroid function in CPP girls and the relationship between CPP and serum TSH concentration.Methods: This is a retrospective cross-sectional study. A total 1,247 girls aged...

Purpose: Central precocious puberty (CPP) is less common in boys than girls; very little data is reported on effect of gonadotropin-releasing hormone analog (GnRHa) treatment in boys with CPP. The aim of the study was to evaluate growth changes in boys with CPP and early puberty (EP) treated with GnRHa therapy for 1 year.Subjects and Methods: In 60 (39 CPP and 21 EP) boys with confirmed diagnosis of CPP and EP, auxological (height, height standard deviat...

Background: Diabetic ketoacidosis (DKA) is the leading cause of morbidity and mortality in children with type 1 diabetes (T1DM). Although dehydration and electrolyte imbalance can be present in patients with DKA and T1DM, gastrointestinal tract complication remains unusual, especially in children. We report a child case of newly onset T1DM who developed acute ischemic intestinal necrosis with severe DKA combined with hypernatremic hyperosmolarity.Case re...