ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH), mostly caused by 21-hydroxylase deficiency, is autosomal recessive disorder characterized by impaired cortisol synthesis. It can be presented with a combination of aldosterone and cortisol deficiency and androgen excess. Therefore, excess production of androgen and glucocorticoid replacement can result to early bone maturation and ultimately diminished adult height (AH).Objectives...

The syndrome of resistance to thyroid hormone (RTH) is caused by decreased tissue responsiveness to thyroid hormone. With the exception, inheritance of RTH is autosomal dominant. The receptors are encoded by two genes (THRA and THRB), each of which undergoes alternate splicing to generate receptor subtypes (TRa1, TRβ1, and TRβ2), with differing tissue distributions.Here we describe a child with novel heterozygous mutations for THRB. Nine-months-old ...

Introduction: Turner syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of out 1/2500 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report a case of a variant TS with breast development.Case report: A 9-year-old girl was referred to our paediatric endocrinology outpatient...

Background: Cushing disease defined as hypercortisolism due to pituitary adrenocorticotrophic hormone (ACTH) secreting adenoma is a very rare disease, especially in childhood and adolescence. The purpose of this report is to follow up Cushing disease patient who presented with osteoporosis, rapid weight gain, decreased growth rate, and relapsing pituitary adenoma after transsphenoidal adenomectomy (TSA).Case: A 17-years-old boy visited our hospital for e...

Background: Cholesterol levels are variable throughout childhood and adolescence. The attention not only to conventional lipid profiles but also to non-high-density lipoprotein cholesterol (non-HDL-C) and triglyceride to HDL-C ratio (TG/HDL-C ratio) are becoming more apparent in pediatric lipid studies because of their clinical importance.Objective and hypotheses: The aim of the present study was to establish age- and gender-specific reference values for...

Background: In girls with central precious puberty (CPP), the hypothalamic-pituitary-gonadal axis is prematurely activated. If the girl is treated with GnRH agonist (GnRH-a), gonadotropins levels become suppressed.Objective and hypotheses: We aimed to evaluate whether serum antimu llerian hormone (AMH) and inhibin B levels are affected in girls with CPP and whether pituitary suppression by GnRH-a affects serum AMH and inhibin B levels.<p class="abste...

Background: As metabolic complication and polycystic ovarian syndrome due to childhood obesity is rising, the role of hyperandrogenemia (HA) and hyperinsulinism is receiving attention.Objective and hypotheses: The aim of this study was to investigate the presence or absence of obvious HA according to pubertal status and to find potential etiologic determinants of HA in Korean obese girls.Method: We analysed 91 subjects aged 6–...

Background: The most common single nucleotide polymorphism in the IGFBP3 promoter region occurs at position -202. This polymorphic variation occurs frequently and may influence GH responsiveness and somatic growth.Objective and hypotheses: This study aimed to assess the effects of IGFBP3 promoter polymorphism on growth in children.Method: Restriction fragment length polymorphism (RFLP)-based genotyping of the -202 single nucleotide...

Background: In precocious puberty, girls experienced secondary sexual development earlier psychologically as well as physically. Self-stress due to a different body shape from the peer group, psychological concerns due to discrepancies between physical and chronological age, and long-term behavioural problems could occur.Objective and hypotheses: The aim of this study was to evaluate psychosocial changes in girls with precocious puberty between before an...

Background: Diabetic ketoacidosis is one of the precipitating factors that can evoke a thyroid storm. Thyroid storm may cause cerebral ischemia in moyamoya disease, which coexist in the patient with Graves’ disease.Case presentation: A 16-year-old girl complaining of dizziness and palpitation visited emergency room, and was diagnosed with diabetic ketoacidosis (DKA) combined by hyperthyroidism. Thyroid storm occurred in 6 h after the start of DKA ma...