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  • 刊频： Four no. a year
  • NLM标题： Ann Pediatr Endocrinol Metab
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  • 1.

    【2hr】The influence of gonadotropin releasing hormone agonist treatment on the body weight and body mass index in girls with idiopathic precocious puberty and early puberty

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    机译 促性腺激素释放激素激动剂治疗对特发性早熟和青春期少女体重和体重指数的影响
    摘要：PurposeThis study aimed to investigate the influence of gonadotropin releasing hormone agonist (GnRHa) treatment on the weight and body mass index (BMI) of girls who were diagnosed with idiopathic central precocious puberty (CPP) or early puberty (EP).
  • 2.

    【2hr】Intellectual development in preschool children with early treated congenital hypothyroidism

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    机译 学龄前儿童先天性甲状腺功能减退症的智力发育
    摘要：PurposeDelayed treatment of congenital hypothyroidism (CH) is a common cause of mental retardation. The aim of the present study was to evaluate intellectual outcomes in preschool children with treated CH.
  • 3.

    【2hr】The association between skeletal maturation and adrenal androgen levels in obese children and adolescents

    包量

    机译 肥胖儿童和青少年的骨骼成熟与肾上腺雄激素水平之间的关系
    摘要：PurposeThis study aimed to investigate the association between skeletal maturation and adrenal androgen levels in obese children and adolescents.
  • 4.

    【2hr】Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland

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    机译 甲状腺原位癌患儿短暂性先天性甲状腺功能减退的预测因素
    摘要：PurposeCongenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Recently, the detection of CH cases with eutopic thyroid gland has increased due to neonatal screening programs. In this study, we aimed to identify and evaluate predictive factors that could distinguish between permanent and transient CH in patients with eutopic thyroid gland.
  • 5.

    【2hr】Effect of growth hormone treatment on children with idiopathic short stature and idiopathic growth hormone deficiency

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    机译 生长激素治疗对特发性矮小和特发性生长激素缺乏症儿童的影响
    摘要：PurposeThere are inconsistencies in the results reported in a small number of previous studies into growth hormone (GH) treatment in Korean children with idiopathic short stature (ISS) and idiopathic growth hormone deficiency (IGHD). Thus, the authors retrospectively compared the effects of GH in ISS and IGHD.
  • 6.

    【2hr】Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome

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    机译 患有异位症候群的患者因背胰发育不全而导致的糖尿病
    摘要：Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple anomalies, including defects of the major cardiovascular system and the extracardiovascular system such as intestinal malrotation, abnormal lung lobulation, bronchus anomalies, and pancreatic dysplasia. Although pancreatic dysplasia is occasionally accompanied with HS, the occurrence of diabetes mellitus (DM) due to pancreatic dysplasia in HS is rarely reported. We here report a case involving 13-year-old girl with DM caused by agenesis of the dorsal pancreas and HS diagnosed on the basis of the presence of a double-outlet right ventricle with bilateral pulmonary stenosis and intestinal malrotation with duodenal cyst. Timely diagnosis and treatment with insulin improved glycemic control.
  • 7.

    【2hr】2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

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    机译 高分辨率细胞遗传学分析证实了2q37缺失综合征
    摘要：Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. However, DCMP has not been reported in 2q37 deletion patients previously. The patient exhibited the characteristic facial appearance (a flat nasal bridge, deep-set eyes, arched eyebrows, and a thin upper lip), developmental delay, mild mental retardation, peripheral nerve palsy, and Albright hereditary osteodystrophy (AHO)-like phenotypes (short stature and brachydactyly). Conventional chromosomal analysis results were normal; however, microarray-based comparative genomic hybridization revealed terminal deletion at 2q37.1q37.3. In addition, the patient was confirmed to have partial growth hormone (GH) deficiency and had shown a significant increase in growth rate after substitutive GH therapy. Chromosome 2q37 deletion syndrome should be considered in the differential diagnosis of patients presenting with AHO features, especially in the presence of facial dysmorphism. When patients are suspected of having a 2q37 deletion, high-resolution cytogenetic analysis is recommended.
  • 8.

    【2hr】Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus

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    机译 一名11岁肛门不全的女孩因迟发性低钙血症而延迟诊断22q11缺失综合征
    摘要：Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents. Imperforate anus and partial cleft palate were found at birth, which were surgically repaired thereafter. There was no history of neonatal hypocalcemia, and karyotyping by GTG banding was normal. At the age of 11, hypocalcemia (serum calcium, 5.0 mg/dL) and decreased parathyroid hormone level (10.8 pg/mL) was noted when she visited our Emergency Department for fever and vomiting. The 22q11DS was suspected because of her mild mental retardation and velopharyngeal insufficiency, and a microdeletion on chromosome 22q11.2 was confirmed by fluorescence in situ hybridization. The 22q11DS should be considered in the differential diagnosis of hypocalcemia at any age because of its wide clinical spectrum.
  • 9.

    【2hr】Bone modeling, remodeling, and skeletal health in children and adolescents: mineral accrual, assessment and treatment

    包量

    机译 儿童和青少年的骨骼建模，重塑和骨骼健康：应计矿物质，评估和治疗
    摘要：The modeling and remodeling process of the bone is fundamental to maintaining its integrity and mechanical properties. Many physical and biochemical factors during childhood and adolescence are crucially important for the development of healthy bones. Systemic conditions, such as hormonal status, nutrition, physical inactivity, or many pharmacological treatments, as well as a local variation in the load, can influence bone turnover and, consequently, the attainment of a proper peak bone mass. However, many diseases affecting children and adolescents can be associated with a reduction in bone accrual or a loss of bone mass and quality, which leads to an increased risk of fracture over one's life. In this review, we examine the effects of genetics, physical activity, chronic diseases and pharmacological treatments, and dietary factors on bone integrity in children and adolescents. We also briefly describe the specific tools that are currently used in assessing bone health.
  • 10.

    【2hr】Perfluoroalkyl substances exposure and thyroid hormones in humans: epidemiological observations and implications

    包量

    机译 人类全氟烷基物质暴露与甲状腺激素：流行病学观察与意义
    摘要：Thyroid hormones play crucial roles in normal neurodevelopment of fetus and child. Many chemicals can affect control and homeostasis of thyroid hormones, and eventually lead to various adverse health effects including neurodevelopmental disorders. Perfluoroalkyl substances (PFASs) are among the thyroid disrupting chemicals that can be encountered among general human population. Due to their unique physicochemical characteristics, PFASs have been used as surfactants and surface coating materials in many applications. Therefore, PFASs have been frequently detected in humans and environment worldwide. In cross-sectional studies using nationally representative general human populations of United States, several PFASs have shown significant associations with thyroid hormones. Moreover, among pregnant women and their infants, not only major PFASs such as perfluorooctane sulfonic acid and perfluorooctanoic acid, but also those with shorter or longer carbon chains showed significant associations with thyroid hormones. Often demographic characteristics such as sex, age, and disease status appear to influence the associations between PFASs exposure and thyroid hormones. In general, major PFASs showed hypothyroidism effects among pregnant women and infants. As 8 carbon based PFASs have been phased out, those with shorter or longer carbon chains have been used in growing amount as replacement. However, only limited information is available for their occurrences and toxicity among humans. Further investigations on these substituting PFASs are required. In addition, efforts are warranted to identify sources of and mitigate exposure to these thyroid disrupting chemicals especially during pregnancy and early stages of life.
  • 11.

    【2hr】Glucagon-like peptide-1 and glucagon-like peptide-1 receptor agonists in the treatment of type 2 diabetes

    包量

    机译 胰高血糖素样肽1和胰高血糖素样肽1受体激动剂在2型糖尿病的治疗中
    摘要：The prevalence of type 2 diabetes (T2D) is increasing worldwide. Patients with T2D suffer from various diabetes-related complications. Since there are many patients with T2D that cannot be controlled by previously developed drugs, it has been necessary to develop new drugs, one of which is a glucagon-like peptide-1 (GLP-1) based therapy. GLP-1 has been shown to ameliorate diabetes-related conditions by augmenting pancreatic β-cell insulin secretion and having the low risk of causing hypoglycemia. Because of a very short half-life of GLP-1, many researches have been focused on the development of GLP-1 receptor (GLP-1R) agonists with long half-lives such as exenatide and dulaglutide. Now GLP-1R agonists have a variety of dosing-cycle forms to meet the needs of various patients. In this article, we review the physiological features of GLP-1, the effects of GLP-1 on T2D, the features of several GLP-1R agonists, and the therapeutic effect on T2D.
  • 12.

    【2hr】Change in body mass index and insulin resistance after 1-year treatment with gonadotropin-releasing hormone agonists in girls with central precocious puberty

    包量

    机译 中央性早熟女孩用促性腺激素释放激素激动剂治疗1年后体重指数和胰岛素抵抗的变化
    摘要：PurposeGonadotropin-releasing hormone agonist (GnRHa) is used as a therapeutic agent for central precocious puberty (CPP); however, increased obesity may subsequently occur. This study compared body mass index (BMI) and insulin resistance during the first year of GnRHa treatment for CPP.
  • 13.

    【2hr】Influence of The -202 A/C insulin-like growth factor-binding protein-3 promoter polymorphism on individual variation in height in Korean girls

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    机译 -202 A / C胰岛素样生长因子结合蛋白3启动子多态性对韩国女孩身高个体差异的影响
    摘要：PurposeThe most common single nucleotide polymorphism in the IGFBP3 promoter region occurs at position -202. This polymorphic variation occurs frequently and may influence growth hormone responsiveness and somatic growth. However, the effects of IGFBP3 promoter polymorphism on growth in children are unknown.
  • 14.

    【2hr】The effect of first nocturnal ejaculation timing on risk and sexual behaviors of Korean male adolescents

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    机译 首次夜间射精时间对韩国男性青少年的风险和性行为的影响
    摘要：PurposeThis study evaluated the effect of first nocturnal ejaculation timing on risk and sexual behaviors of Korean male adolescents.
  • 15.

    【2hr】The different effects of gonadotropin-releasing hormone agonist therapy on body mass index and growth between normal-weight and overweight girls with central precocious puberty

    包量

    机译 促性腺激素释放激素激动剂治疗对中枢性性早熟的正常体重和超重女孩体重指数和生长的不同影响
    摘要：PurposeThe effects of gonadotropin-releasing hormone agonist (GnRHa) treatment on body mass index (BMI) are controversial in girls with central precocious puberty (CPP). We therefore evaluated auxological parameters during GnRHa therapy in patients with CPP, specifically focusing on changes in BMI.
  • 16.

    【2hr】Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome

    包量

    机译 垂体柄中断综合征引起的合并垂体激素缺乏的生长激素的生长
    摘要：Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD) caused by pituitary stalk interruption syndrome (PSIS). The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient's blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD). Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD.
  • 17.

    【2hr】Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia

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    机译 2例严重再生障碍性贫血患者多次输血后继发性血色素沉着症引起的糖尿病
    摘要：Hemochromatosis is an inherited or secondary disorder caused by excessive iron storage leading to multiple organ damage. We describe 2 patients with diabetes mellitus caused by hemochromatosis secondary to multiple blood transfusions due to severe aplastic anemia. Subject 1, who was diagnosed with severe aplastic anemia at 15 years of age, received multiple red blood cell transfusions before he underwent autologous peripheral blood stem cell transplantation (PBSCT) at 22 years of age. At 21 years of age, hyperglycemia was detected with increased hemoglobin A1c and serum ferritin levels, 9.7% and 12,910 ng/mL (normal range, 20–320 ng/mL), respectively. The 24-hour urine C-peptide level was normal with negative antiglutamic acid decarboxylase antibody. Subsequently, metformin and an iron-chelating agent were administered. However, an intensive insulin regimen was necessary 2 years after the onset of diabetes. Subject 2, who was diagnosed with severe aplastic anemia at 2 years of age, received multiple blood transfusions until she underwent haploidentical PBSCT at 13 years of age. At 11 years of age, she developed diabetes mellitus with a high serum ferritin level (12,559.8 ng/mL). She is currently 18 years old and has been treated with an intensive insulin regimen and estrogen/progesterone replacement therapy because of hypogonadotropic hypogonadism. It is presumed that the loss of insulin secretory capacity and insulin resistance played a role in the pathogenesis of diabetes mellitus due to hemochromatosis in these cases.
  • 18.

    【2hr】A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome

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    机译 威廉姆斯-布伦综合征的男孩中枢性甲状腺功能减退和肾上腺功能不全的罕见关联
    摘要：Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy with WBS who presented with central hypothyroidism. During the neonatal period, he had prolonged jaundice, feeding difficulties and episodes of colic that continued during early infancy. Additionally, there was slowing of growth and mild developmental delay. He underwent surgical repair for supravalvular aortic stenosis at 6 months of age. An evaluation done to exclude cortisol deficiency before initiating levothyroxine lead to the detection of secondary adrenal insufficiency, unreported previously in WBS. In addition, insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 levels were low. This report of hypopituitarism in WBS indicates a need for complete evaluation of pituitary dysfunction in children with WBS.
  • 19.

    【2hr】A 1-month-old infant with chylomicronemia due to GPIHBP1 gene mutation treated by plasmapheresis

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    机译 血浆置换术治疗1个月大因GPIHBP1基因突变导致乳糜微粒血症的婴儿
    摘要：Chylomicronemia is a severe type of hypertriglyceridemia characterized by chylomicron accumulation that arises from a genetic defect in intravascular lipolysis. It requires urgent and proper management, because serious cases can be accompanied by pancreatic necrosis or persistent multiple organ failure. We present the case of a 1-month-old infant with chylomicronemia treated by plasmapheresis. His chylomicronemia was discovered incidentally when lactescent plasma was noticed during routine blood sampling during a hospital admission for fever and irritability. Laboratory investigation revealed marked triglyceridemia (>5,000 mg/dL) with high chylomicron levels. We therefore decided to perform a therapeutic plasmapheresis to prevent acute pancreatitis. Sequence analysis revealed a homozygous novel mutation in exon 4 of GPIHBP1: c.476delG (p.Gly159Alafs). Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) stabilizes the binding of chylomicrons near lipoprotein lipase and supports lipolysis. Mutations of GPIHBP1, the most recently discovered gene, can lead to severe hyperlipidemia and are known to make up only 2% of the monogenic mutations associated with chylomicronemia. The patient maintains mild hypertriglyceridemia without rebound after single plasmapheresis and maintenance fibrate medication so far. Here, we report an infant with chylomicronemia due to GPIHBP1 mutation, successfully treated by plasmapheresis.
  • 20.

    【2hr】Transgender youth: current concepts

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    机译 跨性别青年：当前概念
    • 作者：Stephen M. Rosenthal
    • 刊名：Annals of Pediatric Endocrinology Metabolism
    • 2016年第4期
    摘要：In many countries throughout the world, increasing numbers of gender nonconforming/transgender youth are seeking medical services to enable the development of physical characteristics consistent with their experienced gender. Such medical services include use of agents to block endogenous puberty at Tanner stage II with subsequent use of cross-sex hormones, and are based on longitudinal studies demonstrating that those individuals who were first identified as gender dysphoric in early or middle childhood and continue to meet the mental health criteria for being transgender at early puberty are likely to be transgender as adults. This review addresses terms and definitions applicable to gender nonconforming youth, studies that shed light on the biologic determinants of gender identity, current clinical practice guidelines for transgender youth, challenges to optimal care, and priorities for research.
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