ESPE Abstracts

Background: Central precocious puberty (CPP) manifests through the activation of the hypothalamic-pituitary-gonadal axis before the age of 8 in girls and is increasing worldwide, but its causes and prevention methods remain mostly unclear. Premature thelarche (PT) is a benign condition but needs to be differentiated from CPP.Objective: To investigate the microRNA (miRNA) expression profiles in CPP and distinguish it from...

Background: Small for gestational age (SGA) children are defined by birth weight and/or length at least 2 standard deviations (S.D) below the population mean for gestational age. Up to 90% of these infants experience catch-up growth within the first two years of life; however, 10-15% fail to do so, remaining short at age 2 (SGA-SS). The etiology of failure to achieve catch-up growth remains largely unknown.Methods: This ...

Background: Leptin, ghrelin, and nesfatin-1 are peptide hormones which regulates food intake, energy homeostasis and growth hormone synthesis.Objectives: To evaluate the relationship between leptin, ghrelin and nesfatin-1 with catch-up growth (CUG) in children born small for gestational age (SGA).Methods: A total of 67 children were included; 34 children born SGA without CUG, 17 ch...

Turner syndrome(TS) is a chromosomal disorder which occurs in 1/2500 - 1/3000 among female live births, characterized by short stature, pubertal failure and cardiac defects. Mosaicism of 45X/47XXX is extremely rare and accounts for 1.7% of the TS cases. TS with 45X/47XXX is more likely to have spontaneous puberty. The case we present herein is a 13-years old girl who was admitted to Chuncheon sacred heart hospital due to severe anemia. She was diagnosed with Turner syndrom...

Background: Familial precocious puberty is defined by the existence of more than one affected member either in the proband generation or in the pedigree. Recently, several gene mutation cause familial CPP is elucidated, gain of function mutations in KISS1 and KISS1R, loss of function mutations in the MKRN3, the feature of familial precocious puberty is not fully understood.Objective: To investigate the clinical characteristics of familial precocious pube...

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...

Background: Rathke’s cleft cyst (RCC) is a benign, sellar or suprasellar lesion arising from the remnants of Rathke’s pouch that have failed to disappear in the normal development of the embryo. Patients with RCCs are mostly asymptomatic but can also exhibit various symptoms related to pituitary insufficiency. With increasing interest on endocrinology disorders of children or adolescents, the prevalence of RCCs is also on the rise. However, the studies on children or...

Introduction: Kisspeptin is well known gatekeeper of puberty onset to date. However, several neuroendocrine factors are also discovered to be associated with puberty onset and, especially neuropeptide Y (NPY) and neurokinin B, participate in the neuronal network integrating reproduction. However, the interactions between neuroendocrine factors and the reproductive axis have not yet been fully explored. We report herein the expression profile of NPY gene and neurokinin B gene i...

Background: Adiponetin is considered a protective hormone exhibiting beneficial effects against insulin resistance, cardiovascular disease, and cancer. Non-alcoholic fatty liver disease (NAFLD) is considered the hepatic component of insulin resistance. Pharmacological activation of adiponectin signaling might be helpful for treatment of NAFLD, but it is difficult to develop the whole adiponectin protein as a drug because the C-terminal globular domain of adiponectin is extreme...

Mutations in the selenocysteine insertion sequence binding protein 2 gene (SECISBP2 also known as SBP2) result in a multisystemic disorder. A 4-year-old Korean girl presented with atypical thyroid function test result, characterized by normal TSH 2.13 μIU/mL, decreased T3 0.51 ng/mL, free T3(FT3) 1.71 (pg/mL), and elevated free thyroxine (FT4) 4.28 ng/dL. Additionally, she exhibited short stature below 2 standard deviations and delayed bone age. She has not yet begun speaki...