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Annals of Pediatric Endocrinology & Metabolism

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https://www.readbyqxmd.com/read/29301189/congenital-hyperinsulinism-diagnostic-and-management-challenges-in-a-developing-country-case-report
#1
Cheri Mathews John, Prakash Agarwal, Suriyakumar Govindarajulu, Sandhya Sundaram, Senthil Senniappan
Management of congenital hyperinsulinemia of infancy (CHI) is challenging. A 4-month-old female infant with persistent hypoglycemia and elevated insulin levels was diagnosed with CHI. Gallium-68 DOTANOC positron emission tomography/computed tomography (PET/CT) scan (68Ga-labeled [1,4,7,10-tetraazacyclododecane-N,N',N'',N'''-tetraacetic acid]-1-NaI3-octreotide) demonstrated focal disease in the body of the pancreas. Genetic studies indicated paternal inheritance, making focal disease likely. She was started on diazoxide therapy with partial improvement in blood glucose levels...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29301188/a-boy-with-46-x-mar-presenting-gynecomastia-and-short-stature
#2
Ki Eun Kim, Ye Jin Kim, Mo Kyoung Jung, Hyun-Wook Chae, Ah Reum Kwon, Woo Jung Lee, Duk-Hee Kim, Ho-Seong Kim
A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29301187/treatment-outcomes-of-gonadotropin-releasing-hormone-agonist-in-obese-girls-with-central-precocious-puberty
#3
Hye Ryun Kim, Hyo-Kyoung Nam, Young-Jun Rhie, Kee-Hyoung Lee
PURPOSE: This study investigated the influence of obesity on the clinical course and effect of gonadotropin-releasing hormone analog (GnRHa) treatment in girls with central precocious puberty (CPP). METHODS: Medical records of 182 girls with CPP treated with GnRHa were reviewed. They were divided into 2 groups: normal weight (n=108) and overweight/obesity (n=74). Chronological age (CA), bone age (BA), difference between BA and CA (BA-CA), standard deviation score (SDS) of height, body mass index (BMI), predicted adult height (PAH), and laboratory findings were compared at baseline, after 1 year, and at the end of GnRHa treatment in both groups...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29301186/clinical-course-of-infants-with-congenital-heart-disease-who-developed-thyroid-dysfunction-within-100-days
#4
Hye Jin Lee, Hyeoh Won Yu, Gi Beom Kim, Choong Ho Shin, Sei Won Yang, Young Ah Lee
PURPOSE: We investigated the clinical course of infants with congenital heart disease (CHD) who experienced thyroid dysfunction within 100 days of birth. METHODS: We performed retrospective medical reviews of 54 CHD patients (24 male patients) who underwent a thyroid function test (TFT) between January 2007 and July 2016. Data were collected on birth history, diagnosis of CHD, underlying chromosomal or genetic abnormalities, medication history, surgery, ventilator care, and exposure to iodine contrast media (ICM)...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29301185/a-lack-of-association-between-vitamin-d-binding-protein-and-25-hydroxyvitamin-d-concentrations-in-pediatric-type-1-diabetes-without-microalbuminuria
#5
Hwa Young Kim, Young Ah Lee, Hae Woon Jung, Min Jeoung Gu, Ji Young Kim, Gyung Min Lee, Jieun Lee, Ju Young Yoon, Sei Won Yang, Choong Ho Shin
PURPOSE: Vitamin D deficiency is reported to be more common in type 1 diabetes patients and might be associated with the increased urinary loss of vitamin D binding protein (VDBP) consequent to impaired 25-hydroxyvitamin D (25(OH)D) circulation. We aimed to evaluate the possible increased urinary loss of VDBP, a correlation between VDBP and circulating 25(OH)D level, and risk factors influencing low vitamin D level in pediatric type 1 diabetes patients without microalbuminuria. METHODS: This is a cross-sectional study of subjects who visited Seoul National University Children's Hospital between January and March 2013...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29301184/development-of-disease-specific-growth-charts-in-turner-syndrome-and-noonan-syndrome
#6
REVIEW
Tsuyoshi Isojima, Susumu Yokoya
Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29301183/north-korean-children-nutrition-and-growth
#7
REVIEW
Soo-Kyung Lee
North Korea suffered from severe famine in the mid-1990s; this impacted many areas, including people's transnational movement, child growth, and mortality. This review carefully examined nutritional status trends of children in North Korea using published reports from national nutrition assessment surveys. Nutritional adaptation of North Korean child refugees living in South Korea was also studied with their growth and food consumption, using published researches. The nutritional status of children in North Korea has recovered to a "low" level acute malnutrition status and a "medium" level chronic malnutrition status...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29301182/diagnostic-and-therapeutic-considerations-in-turner-syndrome
#8
REVIEW
Seung Yang
Newly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose estrogen replacement therapy can achieve a more physiological endocrine milieu. However, many complicated and controversial issues with such treatment remain. Therefore, lifetime observation, long-term studies of health problems, and optimal therapeutic plans are needed for women with Turner syndrome...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29301181/childhood-obesity-and-endocrine-disrupting-chemicals
#9
REVIEW
Jin Taek Kim, Hong Kyu Lee
The prevalence of obesity around the world has increased sharply. Strong evidence has emerged over the last decades that human exposure to numerous endocrine disrupting chemicals (EDCs) is the cause of obesity and obesity-related metabolic diseases. Many EDCs are manmade chemicals that are released into the environment. EDCs are exogenous compounds that interfere with hormonal regulation and normal endocrine systems, thereby affecting the health of animals and humans. The number of chemicals belonging to EDCs is increasing and some of them are very stable; they persist in the environment (persistent organic pollutants)...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29025209/delayed-diagnosis-of-pituitary-stalk-interruption-syndrome-with-severe-recurrent-hyponatremia-caused-by-adrenal-insufficiency
#10
Kyung Mi Jang, Cheol Woo Ko
Pituitary stalk interruption syndrome (PSIS) involves the occurrence of a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. Diagnosis is confirmed using magnetic resonance imaging. Patients with PSIS have a variable degree of pituitary hormone deficiency and a wide spectrum of clinical manifestations. The clinical course of the disease in our patient is similar to that of a syndrome of inappropriate antidiuretic hormone secretion. This is thought to be caused by failure in the suppression of vasopressin secretion due to hypocortisolism...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29025208/an-atypical-case-of-noonan-syndrome-with-kras-mutation-diagnosed-by-targeted-exome-sequencing
#11
Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and genetic heterogeneity, the conventional diagnostic protocol with Sanger sequencing requires a multistep approach. Therefore, molecular genetic diagnosis using targeted exome sequencing (TES) is considered a less expensive and faster method, particularly for patients who do not fulfill the clinical diagnostic criteria of NS...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29025207/a-rare-case-of-multiple-pituitary-adenomas-in-an-adolescent-cushing-disease-presenting-as-a-vertebral-compression-fracture
#12
Ji-Yeon Song, Sue-Jean Mun, Soon-Ki Sung, Jae-Yeon Hwang, Seung-Kug Baik, Jee Yeon Kim, Chong-Kun Cheon, Su-Young Kim, Yoo-Mi Kim
Cushing disease in children and adolescents, especially with multiple pituitary adenomas (MPAs), is very rare. We report 17-year-old boy with MPAs. He presented with a vertebral compression fracture, weight gain, short stature, headache, and hypertension. On magnetic resonance imaging (MRI), only a left pituitary microadenoma was found. After surgery, transient clinical improvement was observed but headache and hypertension were observed again after 3 months later. Follow-up MRI showed a newly developed right pituitary microadenoma 6 months after the surgery...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29025206/nonalcoholic-fatty-liver-disease-in-long-term-survivors-of-childhood-onset-craniopharyngioma
#13
So Yoon Jung, Yun Jeong Lee, Hye Jin Lee, Young Ah Lee, Jin Soo Moon, Jae Sung Ko, Sei Won Yang, Choong Ho Shin
PURPOSE: Hypothalamic obesity in childhood-onset (CO-) craniopharyngioma patients may predispose to nonalcoholic fatty liver disease (NAFLD). This study reviewed the characteristics of NAFLD associated with CO-craniopharyngioma. METHODS: This study retrospectively reviewed 75 patients who underwent surgery for craniopharyngioma while younger than 15 years of age between 2000 and 2016. RESULTS: Elevated aspartate aminotransferase (AST) or alanine aminotransferase (ALT) above 40 IU/L was observed in 51 of the 75 (68%) CO-craniopharyngioma patients...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29025205/diurnal-variation-of-gonadotropin-levels-in-girls-with-early-stages-of-puberty
#14
Yu Sun Kang, Dong-Yoon Yoo, In Hyuk Chung, Eun-Gyong Yoo
PURPOSE: Pubertal gonadotropin secretion shows circadian pattern and the luteinizing hormone (LH) levels tend to rise in later stages of puberty in girls. We studied the usefulness of basal LH in the evaluation of central precocious puberty with emphasis on the influence of sampling time. METHODS: Medical records of 334 girls that underwent gonadotropin-releasing hormone stimulation test (GnRHST) were reviewed. Auxological and laboratory data were compared between those with early morning (EM, before 10 AM) and late morning/afternoon (LM/A, after 10 AM) basal samples...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29025204/insulin-resistance-and-bone-age-advancement-in-girls-with-central-precocious-puberty
#15
Jin Ho Hur, Sora Park, Mo Kyung Jung, Seok Jin Kang, Ahreum Kwon, Hyun Wook Chae, Ho-Seong Kim, Duk Hee Kim
PURPOSE: Precocious puberty has significantly increased recently. While obesity is associated with puberty timing, the relationship between obesity and central precocious puberty (CPP) remains controversial. The purpose of this study was to determine whether insulin resistance is associated with bone age (BA) advancement in girls with CPP. METHODS: We retrospectively analyzed the records of 804 girls referred for puberty evaluation. Anthropometric measurements, BA, sex hormone, sex hormone binding globulin (SHBG), and insulin levels, lipid profiles, and gonadotropin releasing hormone stimulation tests were assessed...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29025203/impact-of-targeted-education-on-managing-warning-and-error-signals-by-children-and-adolescents-with-type-1-diabetes-using-the-accu-chek-combo-insulin-pump-system
#16
Asma Deeb, Nabras Al Qahtani, Amal Al Ali, Mariette Akle
PURPOSE: Insulin pumps are widely used in diabetes. They are equipped with safety alarms to alert users. Pump manuals contain alarm codes and how to troubleshoot them. However, these manuals are lengthy and difficult to use, particularly in emergencies. We aim to assess the impact of targeted education on warnings and errors in improving competency to troubleshoot the alarms. METHODS: Twenty-one patients, with a median age of 13, were recruited over a 5-month period...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29025202/clinical-manifestations-of-rathke-s-cleft-cysts-and-their-natural-progression-during-2-years-in-children-and-adolescents
#17
Jo Eun Jung, Juhyun Jin, Mo Kyung Jung, Ahreum Kwon, Hyun Wook Chae, Duk Hee Kim, Ho-Seong Kim
PURPOSE: Rathke's cleft cyst (RCC) is an asymptomatic benign lesion. With increased interest in pediatric endocrinology, the prevalence of RCCs in children is also increasing. However, the clinical relevance and proper management of RCC is not well defined in children. Therefore, we investigated the clinical manifestations and radiologic features of RCC in children and adolescents, as well as the natural progression of RCC. METHODS: We retrospectively reviewed the medical records of 91 children and adolescents with RCC diagnosed with magnetic resonance imaging (MRI) in Severance Children's Hospital from January 2006 to December 2015...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29025201/the-triglyceride-to-high-density-lipoprotein-cholesterol-ratio-in-overweight-korean-children-and-adolescents
#18
Dong-Yoon Yoo, Yu Sun Kang, Eun Byul Kwon, Eun-Gyong Yoo
PURPOSE: The triglyceride-to-high-density lipoprotein cholesterol (TG/HDL-C) ratio has recently been reported as a biomarker of cardiometabolic risk in obese children and adolescents. The purpose of this study is to describe the TG/HDL-C ratio and related factors in overweight and normal weight Korean children and to evaluate whether the high TG/HDL-C ratio is associated with insulin resistance in overweight children and adolescents. METHODS: Data from 255 overweight (aged 8...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29025200/novel-genetic-cause-of-idiopathic-short-stature
#19
REVIEW
Min Jae Kang
Traditionally, the growth hormone - insulin-like growth factor I (GH - IGF-I) axis is the most important signaling pathway in linear growth, and defects in this axis present as growth hormone deficiencies or IGF-I deficiencies. However, subtle changes in serum levels of GH or IGF-I, caused by gene mutations involved in the GH - IGF-I axis, can present as idiopathic short stature (ISS). This paper briefly discusses GHR and IGFALS. In addition, recent studies have shown that many factors, including paracrine signals, extracellular matrix, and intracellular mechanisms of chondrocytes, regulate the growth plate independent of the GH - IGF-I system...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29025199/effects-of-growth-hormone-on-glucose-metabolism-and-insulin-resistance-in-human
#20
REVIEW
Shin-Hye Kim, Mi-Jung Park
Growth hormone (GH) is important for promotion of somatic growth and the regulation of substrate metabolism. Metabolic action of GH occurs in multiple tissues including the liver, muscle, fat and pancreas either directly or indirectly through insulin-like growth factor 1. The diabetogenic action of GH has been well-described in previous in vivo studies. In this paper, we review the metabolic effects of GH on peripheral tissues focusing on glucose metabolism and insulin resistance, and discuss results from human studies on the long-term effects of GH administration on insulin resistance and hyperglycemia...
September 2017: Annals of Pediatric Endocrinology & Metabolism
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