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Annals of Pediatric Endocrinology & Metabolism

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https://www.readbyqxmd.com/read/28690994/delayed-diagnosis-of-22q11-deletion-syndrome-due-to-late-onset-hypocalcemia-in-a-11-year-old-girl-with-imperforated-anus
#1
Dong-Yoon Yoo, Hae Jung Kim, Kee Hyun Cho, Eun Byul Kwon, Eun-Gyong Yoo
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...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690993/2q37-deletion-syndrome-confirmed-by-high-resolution-cytogenetic-analysis
#2
Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
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...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690992/diabetes-mellitus-due-to-agenesis-of-the-dorsal-pancreas-in-a-patient-with-heterotaxy-syndrome
#3
Jo Eun Jung, Jin Ho Hur, Mo Kyung Jung, Ahreum Kwon, Hyun Wook Chae, Duk Hee Kim, Ho-Seong Kim
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...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690991/effect-of-growth-hormone-treatment-on-children-with-idiopathic-short-stature-and-idiopathic-growth-hormone-deficiency
#4
Minji Im, Yong-Dae Kim, Heon-Seok Han
PURPOSE: There 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. METHODS: From the medical records of 26 ISS and 30 IGHD children, auxological and biochemical changes including chronologic age (CA), bone age (BA), height standard deviation score (HT-SDS), predicted adult height (PAH), midparental height (MPH), insulin-like growth factor-1 (IGF-1), and insulin-like growth factor binding protein-3 (IGFBP-3) were compared...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690990/predictors-of-transient-congenital-hypothyroidism-in-children-with-eutopic-thyroid-gland
#5
Il Soon Park, Jong Seo Yoon, Cheol Hwan So, Hae Sang Lee, Jin Soon Hwang
PURPOSE: Congenital 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. METHODS: We retrospectively reviewed 100 children diagnosed with CH and with eutopic thyroid gland...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690989/the-association-between-skeletal-maturation-and-adrenal-androgen-levels-in-obese-children-and-adolescents
#6
Sung Eun Kim, Joon Weon Jang, Moon Bae Ahn, Shin-Hee Kim, Won Kyoung Cho, Kyoung Soon Cho, So Hyun Park, Min Ho Jung, Byoung Kyu Suh
PURPOSE: This study aimed to investigate the association between skeletal maturation and adrenal androgen levels in obese children and adolescents. METHODS: Fifty-three children and adolescents (aged 7-15 years) diagnosed as obese or overweight were investigated. Anthropometric measurements, bone age (BA) determination, serum biochemical analyses, and hormonal measurements were performed. The difference between BA and chronological age (BA-CA, dBACA) was calculated and used to represent the degree of advanced skeletal maturation...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690988/intellectual-development-in-preschool-children-with-early-treated-congenital-hypothyroidism
#7
Min Kyoung Seo, Jong Seo Yoon, Chul Hwan So, Hae Sang Lee, Jin Soon Hwang
PURPOSE: Delayed 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. METHODS: We retrospectively reviewed the clinical records of 43 children (age range: 13 to 60 days of life; 22 girls and 21 boys) diagnosed with CH. Children aged 5 to 7 years were examined using the Korean Wechsler Intelligence Scale for Children or the Korean Wechsler Preschool and Primary Scale of Intelligence...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690987/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
#8
Sung Woo Kim, Young Bae Kim, Jeong Eun Lee, Na Ri Kim, Weon Kyung Lee, Jae Kyun Ku, Eun Jeong Kim, Sun Hee Jung, Woo Yeong Chung
PURPOSE: This 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). METHODS: Patients who were younger than 8 years of age at diagnosis were classified as CPP and patients aged between 8 and 9 years at diagnosis were classified as EP. Of 129 patients, 34 were diagnosed with CPP and 95 were diagnosed with EP...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690986/next-generation-sequencing-and-array-based-comparative-genomic-hybridization-for-molecular-diagnosis-of-pediatric-endocrine-disorders
#9
REVIEW
Maki Fukami, Mami Miyado
Next-generation sequencing (NGS) and array-based comparative genomic hybridization (array CGH) have enabled us to perform high-throughput mutation screening and genome-wide copy number analysis, respectively. These methods can be used for molecular diagnosis of pediatric endocrine disorders. NGS has determined the frequency and phenotypic variation of mutations in several disease-associated genes. Furthermore, whole exome analysis using NGS has successfully identified several novel causative genes for endocrine disorders...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690985/metabolic-syndrome-induced-by-anticancer-treatment-in-childhood-cancer-survivors
#10
REVIEW
Hee Won Chueh, Jae Ho Yoo
The number of childhood cancer survivors is increasing as survival rates improve. However, complications after treatment have not received much attention, particularly metabolic syndrome. Metabolic syndrome comprises central obesity, dyslipidemia, hypertension, and insulin resistance, and cancer survivors have higher risks of cardiovascular events compared with the general population. The mechanism by which cancer treatment induces metabolic syndrome is unclear. However, its pathophysiology can be categorized based on the cancer treatment type administered...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690984/the-rapid-internationalization-of-annals-of-pediatric-endocrinology-metabolism-as-evidenced-by-journal-metrics
#11
Sun Huh
PURPOSE: Using journal metrics, this paper explores whether Annals of Pediatric Endocrinology & Metabolism has internationalized 4 years after changing its language to English only. METHODS: From the journal's website and the Web of Science Core Collection, the following metrics were counted or calculated: Number of citable articles, countries of authors and editorial board members, total citations, impact factor, countries of citing authors, citing journal titles, and Hirsch index...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443263/a-1-month-old-infant-with-chylomicronemia-due-to-gpihbp1-gene-mutation-treated-by-plasmapheresis
#12
Mo Kyung Jung, Juhyun Jin, Hyun Ok Kim, Ahreum Kwon, Hyun Wook Chae, Seok Jin Kang, Duk Hee Kim, Ho-Seong Kim
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...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443262/a-rare-association-of-central-hypothyroidism-and-adrenal-insufficiency-in-a-boy-with-williams-beuren-syndrome
#13
Devi Dayal, Dinesh Giri, Senthil Senniappan
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...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443261/diabetes-mellitus-caused-by-secondary-hemochromatosis-after-multiple-blood-transfusions-in-2-patients-with-severe-aplastic-anemia
#14
Hyun Jin Kim, Yoon-Myung Kim, Eungu Kang, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
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...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443260/growth-without-growth-hormone-in-combined-pituitary-hormone-deficiency-caused-by-pituitary-stalk-interruption-syndrome
#15
Sang Soo Lee, A-Leum Han, Moon Bae Ahn, Shin Hee Kim, Won Kyoung Cho, Kyoung Soon Cho, So Hyun Park, Min Ho Jung, Byung-Kyu Suh
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)...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443259/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
#16
Won Jun Yang, Keun Hyeok Ko, Kon Hee Lee, Il Tae Hwang, Yeon Joung Oh
PURPOSE: The 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. METHODS: Seventy-seven girls with idiopathic CPP who underwent GnRHa therapy were retrospectively recruited. We investigated BMI changes during the treatment period after stratifying them according to baseline BMI status as follows: normal (BMI percentile of <85th) and overweight groups (BMI percentile of ≥85th)...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443258/the-effect-of-first-nocturnal-ejaculation-timing-on-risk-and-sexual-behaviors-of-korean-male-adolescents
#17
Mi-Ji Lee, Go-Eun Yang, Hee Won Chueh, Jae Hong Park, Jae-Ho Yoo
PURPOSE: This study evaluated the effect of first nocturnal ejaculation timing on risk and sexual behaviors of Korean male adolescents. METHODS: We analyzed data from the 10th edition of the Korea Youth Risk Behavior Web-based survey that was conducted with male high school adolescents in grades 10-12. The survey included 17,907 adolescents, and 10,326 responded their experience of first nocturnal ejaculation. Of these, 595 had their first nocturnal ejaculation in ≤grade 4 ("early puberty") and 9,731 had their first nocturnal ejaculation in ≥grade 5 ("normal puberty")...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443257/influence-of-the-202-a-c-insulin-like-growth-factor-binding-protein-3-promoter-polymorphism-on-individual-variation-in-height-in-korean-girls
#18
Min Ju Yi, Tae Young Park, Il Tae Hwang, Seung Yang
PURPOSE: The 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. METHODS: Restriction fragment length polymorphism-based genotyping of the -202 single nucleotide polymorphism was performed in 146 Korean girls aged between 15 and 16 years, who were selected randomly from the Seoul School Health Promotion Center...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443256/change-in-body-mass-index-and-insulin-resistance-after-1-year-treatment-with-gonadotropin-releasing-hormone-agonists-in-girls-with-central-precocious-puberty
#19
Jina Park, Jae Hyun Kim
PURPOSE: Gonadotropin-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. METHODS: Patient group included 83 girls (aged 7.0-8.9 years) with developed breasts and a peak luteinizing hormone level of ≥5 IU/L after GnRH stimulation. Control group included 48 prepubertal girls...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443255/glucagon-like-peptide-1-and-glucagon-like-peptide-1-receptor-agonists-in-the-treatment-of-type-2-diabetes
#20
REVIEW
Seungah Lee, Dong Yun Lee
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...
March 2017: Annals of Pediatric Endocrinology & Metabolism
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