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Annals of Pediatric Endocrinology & Metabolism

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https://www.readbyqxmd.com/read/28164080/erratum-diagnostic-difficulties-by-the-unusual-presentations-in-children-and-adolescents-with-hashimoto-thyroiditis
#1
Betül Ersoy, Seniha Kiremitch Yilmaz, Deniz Kızılay, Münevver Yılmaz, Şenol Coşkun
[This corrects the article on p. 164 in vol. 21, PMID: 27777910.].
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28164079/short-stature-and-growth-hormone-deficiency-in-a-girl-with-encephalocraniocutaneous-lipomatosis-and-jaffe-campanacci-syndrome-a-case-report
#2
Eun Mi Choi, Nani Jung, Ye Jee Shim, Hee Joung Choi, Joon Sik Kim, Heung Sik Kim, Kwang Soon Song, Hee Jung Lee, Sang Pyo Kim
A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28164078/an-11-month-old-girl-with-central-precocious-puberty-caused-by-hypothalamic-hamartoma
#3
Da Young Yoon, Jae Hyun Kim
Central precocious puberty (CPP) is caused by premature activation of the hypothalamic-gonadal axis, and must be treated adequately. In particular, CPP that occurs at a relatively young age or in boys is likely to be caused by an organic lesion. Hypothalamic hamartoma (HH) is the most common organic cause of CPP. The present case report describes an 11-month-old female infant who presented with vaginal bleeding and rapidly progressive secondary sex characteristics from the age of 6 months. She was diagnosed with CPP following the detection of HH via magnetic resonance imaging...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28164077/severe-hyponatremia-and-repeated-intestinal-resections-for-intestinal-dysmotility-mimicking-congenital-aganglionic-megacolon-due-to-delay-in-the-diagnosis-of-congenital-hypothyroidism
#4
Gonul Buyukyilmaz, Demet Baltu, Tutku Soyer, Murat Tanyıldız, Huseyin Demirbilek
Congenital hypothyroidism (CH) may present with nonspecific signs and symptoms, though, majority of infants can be asymptomatic. Therefore, understimation and delay in diagnosis may result in severe complications. A 5-month-old female admitted to our clinic with the history of repeated surgical operations due to the diagnosis of congenital aganglionic megacolon. Investigations performed in our clinic revealed the diagnosis of congenital (primary) hypothyroidism due to thyroid agenesis. Histopathologic evaluation of previously resected colon sample revealed normal ganglionic cell included colon...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28164076/systemic-primary-carnitine-deficiency-with-hypoglycemic-encephalopathy
#5
Jae Sung Jun, Eun Joo Lee, Hyung Doo Park, Hae Sook Kim
Acute hypoglycemia in children is not an uncommon disease that can be encountered in the Emergency Department. Most cases of childhood hypoglycemia are caused by ketotic hypoglycemia due to missed meals. Often, hypoketotic hypoglycemia can also occur, which suggests hyperinsulinemia or a defect in fatty acid oxidation. Carnitine is essential for long chain fatty acids transfer into mitochondria for oxidation. We present a case of systemic primary carnitine deficiency who presented with seizures due to hypoketotic hypoglycemia...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28164075/the-impact-of-obesity-on-hyperandrogenemia-in-korean-girls
#6
Min Jae Kang, Seung Yang, Il Tae Hwang
PURPOSE: As metabolic complication and polycystic ovarian syndrome due to childhood obesity is rising, the role of hyperandrogenemia (HA) and hyperinsulinism is receiving attention. The aims of this study were to investigate the presence of obvious HA according to pubertal status and to find potential etiologic determinants of HA in Korean obese (OB) girls. METHODS: We analyzed 91 girls aged 6-17 years (prepuberty, n=54; puberty, n=37). Each girl was classified as being either normal weight (NW) or OB...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28164074/clinical-features-of-childhood-diabetes-mellitus-focusing-on-latent-autoimmune-diabetes
#7
Seung Ho Lee, Jeesuk Yu
PURPOSE: This study was designed to evaluate the clinical characteristics of childhood diabetes mellitus (DM) according to its classification as well as the clinical course of latent autoimmune diabetes (LAD) that initially showed noninsulin dependence despite autoantibody positivity. METHODS: A total of 91 subjects diagnosed between 2001 and 2015 were enrolled in the study. They were classified into 3 groups: type 1 DM, LAD, and type 2 DM. Clinical features and laboratory findings were compared among groups...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28164073/perinatal-factors-associated-with-neonatal-thyroid-stimulating-hormone-in-normal-newborns
#8
Seong Yong Lee
PURPOSE: This study was to evaluate the effect of neonatal, maternal, and delivery factors on neonatal thyroid-stimulating hormone (TSH) of healthy newborns. METHODS: Medical records of 705 healthy infants born through normal vaginal delivery were reviewed. Neonatal TSH levels obtained by neonatal screening tests were analyzed in relation to perinatal factors and any associations with free thyroxine (FT4) and 17-α hydroxyprogesterone (17OHP) levels. RESULTS: An inverse relationship was found between TSH and sampling time after birth...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28164072/leptin-and-adiponectin-levels-in-girls-with-central-precocious-puberty-before-and-during-gnrh-agonist-treatment
#9
Jae Won Yoo, Chun Woo Song, Han Hyuk Lim
PURPOSE: The effects of gonadotropin-releasing hormone agonist (GnRHa) treatment on the energy metabolism in girls with central precocious puberty (CPP) are controversial. We focused the changes and related factors of serum levels of leptin and adiponectin in girls with CPP before and during GnRHa treatment. METHODS: Thirty girls with idiopathic CPP were enrolled in the study. Their auxological data and fasting blood were collected at the baseline and after six months of GnRHa treatment...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28164071/transcriptional-coordination-of-hepatic-autophagy-by-nutrient-sensing-nuclear-receptor-ppar%C3%AE-and-fxr
#10
REVIEW
Jae Man Lee
Nuclear receptors are in general ligand-dependent transcription factors that control a variety of mammalian physiologies including development, differentiation, proliferation, and homeostasis. Recent studies have found that two nutrient-sensing nuclear receptors, peroxisome proliferator-activated receptor α and farnesoid x receptor, responding to fasting or feeding state, respectively are able to regulate autophagy, an evolutionarily conserved catabolic process involved in lysosomal degradation. In this review, we discuss the role of these nutrient-sensing nuclear receptors in an aspect of transcriptional regulation of autophagy, and how these nuclear receptor-driven transcriptional programs integrate lipophagy, a lipid autophagy with fatty acid oxidation to coordinate hepatic lipid metabolism in the fasted state of the liver...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28164070/transgender-youth-current-concepts
#11
REVIEW
Stephen M Rosenthal
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...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27777913/retraction-mixed-gonadal-dysgenesis-in-45-x-turner-syndrome-with-sry-gene
#12
(no author information available yet)
[This retracts the article on p. 226 in vol. 20, PMID: 26817010.].
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27777912/endocrine-complications-during-and-after-adolescence-in-a-patient-with-cystinosis
#13
Moon Bae Ahn, Sung Eun Kim, Won Kyoung Cho, Min Ho Jung, Byung Kyu Suh
Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a 12-year-old boy with short stature, general weakness, and photophobia. The diagnosis was confirmed based on ophthalmic findings and biochemical analyses (serum leukocyte cystine measurement). Major endocrine manifestations at diagnosis included hypothyroidism, growth retardation, and hypogonadism. Despite oral cysteamine administration and renal replacement therapy, multiple complications including both endocrine and nonendocrine disorders developed during and after adolescence...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27777911/long-term-clinical-outcome-and-the-identification-of-homozygous-cyp27b1-gene-mutations-in-a-patient-with-vitamin-d-hydroxylation-deficient-rickets-type-1a
#14
Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D3). Radiographic images of the wrist showed metaphyseal widening with cupping and fraying of the ulna and distal radius, suggesting rickets...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27777910/diagnostic-difficulties-by-the-unusual-presentations-in-children-and-adolescents-with-hashimoto-thyroiditis
#15
Betül Ersoy, Kiremitçi Yılmaz Seniha, Deniz Kızılay, Münevver Yılmaz, Şenol Coşkun
Complex clinical presentation with diverse timing of particular symptoms may cause diagnostic difficulties, especially in children and adolescents. This paper presents diagnostic difficulties and pitfalls in 3 children with acquired primary hypothyroidism due to Hashimoto's thyroiditis (HT) presenting with unusual manifestations. We described 3 children with acquired primary hypothyroidism due to HT. One of our patients had musculoskeletal pain and was diagnosed and treated as having connective tissue disease...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27777909/a-baby-with-congenital-hypothyroidism-born-to-a-hypothyroid-mother-who-expressed-undiagnosed-thyroid-stimulation-blocking-antibody
#16
Mock Ryeon Kim, Hye Won Park, Sochung Chung
In adults, hypothyroidism caused by thyroid stimulation blocking antibody (TSB Ab) is rare, and confirmed cases are even fewer, as TSB Ab levels are rarely assayed. However, this may create problems in babies, as the transplacental passage of maternal TSB Ab can cause a rare type of hypothyroidism in the infant. Prompt levothyroxine replacement for the baby starting immediately after birth is important. We describe a congenital hypothyroid baby born to a hypothyroid mother who was not aware of the cause of her hypothyroid condition, which turned out to be associated with the expression of TSB Ab...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27777908/body-image-and-depression-in-girls-with-idiopathic-precocious-puberty-treated-with-gonadotropin-releasing-hormone-analogue
#17
Min-Seon Choi, Eun-Young Kim
PURPOSE: Precocious puberty (PP) is associated with psychological and behavioral problems. This study aimed to evaluate the perception of body image and depression in girls with PP receiving gonadotropin-releasing hormone (GnRH) analogue therapy. METHODS: From March to August 2013, 82 girls with PP receiving GnRH analogue therapy were enrolled. Height, weight, body mass index, and stages of pubertal development were assessed. Participants completed a series of questionnaires on their body image perception and pubertal self-assessment...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27777907/vitamin-d-deficiency-in-children-aged-6-to-12-years-single-center-s-experience-in-busan
#18
Young Eun Roh, Bo Ryung Kim, Won Bok Choi, Young Mi Kim, Min-Jung Cho, Hye-Young Kim, Kyung Hee Park, Kwang Hoon Kim, Peter Chun, Su Young Kim, Min Jung Kwak
PURPOSE: This study investigated the prevalence and risk factors associated with vitamin D deficiency in children. METHODS: We analyzed the medical records of 330 patients from the age of 6 to 12, who visited the endocrinology clinic of the Department of Pediatrics at Pusan National University Hospital, from September, 2013 to May, 2014. According to their serum 25-hydroxyvitamin D (25(OH)D) levels, the patients were grouped into either the deficiency group (25(OH)D<20 ng/mL), or the sufficiency group (25(OH)D≥20 ng/mL)...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27777906/the-cutoff-values-of-indirect-indices-for-measuring-insulin-resistance-for-metabolic-syndrome-in-korean-children-and-adolescents
#19
Jun Woo Kim, Sang Hoo Park, Yoojin Kim, Minji Im, Heon-Seok Han
PURPOSE: The prevalence rates of metabolic syndrome (MetS) and percentile distribution of insulin resistance (IR) among Korean children and adolescents were investigated. The cutoff values of IR were calculated to identify high-risk MetS groups. METHODS: Data from 3,313 Korean subjects (1,756 boys and 1,557 girls, aged 10-18 years) were included from the Korean National Health and Nutrition Examination Survey conducted during 2007-2010. Three different sets of criteria for MetS were used...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27777905/etiology-and-therapeutic-outcomes-of-children-with-gonadotropin-independent-precocious-puberty
#20
Eungu Kang, Ja Hyang Cho, Jin-Ho Choi, Han-Wook Yoo
PURPOSE: This study was performed to investigate the etiology, clinical features, and outcomes of patients with gonadotropin-independent precocious puberty (GIPP). METHODS: The study included 16 patients (14 female and 2 male patients) who manifested secondary sexual characteristics, elevated sex hormones, or adrenal androgens with prepubertal luteinizing hormone levels after gonadotropin releasing hormone stimulation diagnosed between May 1994 and December 2015...
September 2016: Annals of Pediatric Endocrinology & Metabolism
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