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Annals of Pediatric Endocrinology & Metabolism

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https://read.qxmd.com/read/30599487/nonautoimmune-congenital-hyperthyroidism-due-to-p-asp633glu-mutation-in-the-tshr-gene
#1
Won Kyoung Cho, Moon-Bae Ahn, Woori Jang, Hyojin Chae, Myungshin Kim, Byung-Kyu Suh
Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune forms of congenital hyperthyroidism caused by activating mutations of the thyrotropin receptor (TSHR) gene are rare. A woman gave birth to a boy during an emergency cesarean section at 33 weeks of gestation due to fetal tachycardia. On the 24th day of life, thyroid function tests were performed due to persistent tachycardia, and hyperthyroidism was confirmed. Auto-antibodies to TSHR, thyroid peroxidase, and thyroglobulin were not found...
December 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30599486/a-novel-de-novo-mosaic-mutation-in-phex-in-a-korean-patient-with-hypophosphatemic-rickets
#2
Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin
X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short stature. He had received medical treatment with vitamin D (alfacalcidol) and phosphate from the age of 3 to 20 years. He underwent surgery due to valgus deformity at the age of 14 and 15. Targeted gene panel sequencing for Mendelian genes identified a nonsense mutation in PHEX (c...
December 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30599485/severe-recurrent-nocturnal-hypoglycemia-during-chemotherapy-with-6-mercaptopurine-in-a-child-with-acute-lymphoblastic-leukemia
#3
Eun Mi Cho, Jung Eun Moon, Soo Jung Lee, Cheol Woo Ko
Various endocrine dysfunctions occur during chemotherapy, including hypoglycemia. However, reports of hypoglycemia associated with 6-mercaptopurine (6-MP) are rare. Herein, we report an 8-year-old boy with severe symptomatic hypoglycemia likely due to 6-MP during chemotherapy. He had been diagnosed with acute lymphoblastic leukemia 3 years previously and was in the maintenance chemotherapy period. Treatment included oral dexamethasone, methotrexate, and 6-MP, of which only 6-MP was administered daily. Hypoglycemic symptoms appeared mainly at dawn, and his serum glucose dropped to a minimum of 37 mg/dL...
December 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30599484/two-korean-girls-with-complete-androgen-insensitivity-syndrome-diagnosed-in-infancy
#4
You Jung Heo, Jung Min Ko, Young Ah Lee, Choong Ho Shin, Sei Won Yang, Man Jin Kim, Sung Sub Park
Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild...
December 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30599483/the-effect-of-overweight-on-the-luteinizing-hormone-level-after-gonadorelin-stimulation-test-in-girls-with-idiopathic-central-precocious-puberty
#5
Hyun Young Lee, Yoon-Ji Lee, Moon-Bae Ahn, Won-Kyoung Cho, Byung-Kyu Suh
PURPOSE: We investigated the effect of overweight on luteinizing hormone (LH) levels after a gonadorelin stimulation test in Korean girls with idiopathic central precocious puberty (CPP). METHODS: Medical records of 234 girls diagnosed with idiopathic CPP were reviewed retrospectively. CPP was diagnosed when the peak LH levels after gonadorelin stimulation was >5.0 U/L. The enrolled girls had a peak LH level >5.0 U/L after a gonadorelin stimulation test...
December 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30599482/interpretation-of-androgen-and-anti-mullerian-hormone-profiles-in-a-hispanic-cohort-of-5-to-8-year-old-girls-with-premature-adrenarche
#6
Preneet Cheema Brar, Elena Dingle, Daniela Ovadia, Sarah Pivo, Veeramac Prasad, Raphael David
PURPOSE: Premature adrenarche (PA) often leads to polycystic ovary syndrome (PCOS). Higher anti-mullerian hormone (AMH) levels are reported in PCOS. We studied the androgen profile and AMH profiles in Hispanic girls with PA (aged 5-8 years) and age and body mass index (BMI) matched controls. METHODS: Retrospective review of electronic medical records of girls who met the inclusion criteria for premature adrenarche were done. RESULTS: PA girls (n=76) were matched to control girls (n=12) for age (mean±standard deviation) (6...
December 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30599481/the-role-of-p21-cip1-waf1-p21-in-the-negative-regulation-of-the-growth-hormone-growth-hormone-receptor-and-epidermal-growth-factor-epidermal-growth-factor-receptor-pathways-in-growth-hormone-transduction-defect
#7
Eirini Kostopoulou, Andrea Paola Rojas Gil, Bessie E Spiliotis
PURPOSE: Growth hormone transduction defect (GHTD) is characterized by severe short stature, impaired STAT3 (signal transducer and activator of transcription-3) phosphorylation and overexpression of the cytokine inducible SH2 containing protein (CIS) and p21/CIP1/WAF1. To investigate the role of p21/CIP1/WAF1 in the negative regulation of the growth hormone (GH)/GH receptor and Epidermal Growth Factor (EGF)/EGF Receptor pathways in GHTD. METHODS: Fibroblast cultures were developed from gingival biopsies of 1 GHTD patient and 1 control...
December 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30599480/association-between-hemoglobin-glycation-index-and-cardiometabolic-risk-factors-in-korean-pediatric-nondiabetic-population
#8
Bora Lee, You Jung Heo, Young Ah Lee, Jieun Lee, Jae Hyun Kim, Seong Yong Lee, Choong Ho Shin, Sei Won Yang
PURPOSE: The hemoglobin glycation index (HGI) represents the degree of nonenzymatic glycation and has been positively associated with cardiometabolic risk factors (CMRFs) and cardiovascular disease in adults. This study aimed to investigate the association between HGI, components of metabolic syndrome (MS), and alanine aminotransferase (ALT) in a pediatric nondiabetic population. METHODS: Data from 3,885 subjects aged 10-18 years from the Korea National Health and Nutrition Examination Survey (2011-2016) were included...
December 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30599479/early-life-exposure-to-endocrine-disrupting-chemicals-associates-with-childhood-obesity
#9
Chunxue Yang, Hin Kiu Lee, Alice Pik Shan Kong, Lee Ling Lim, Zongwei Cai, Arthur C K Chung
Increasing prevalence of childhood obesity poses threats to the global health burden. Because this rising prevalence cannot be fully explained by traditional risk factors such as unhealthy diet and physical inactivity, early-life exposure to endocrine disrupting chemicals (EDCs) is recognized as emerging novel risk factors for childhood obesity. EDCs can disrupt the hormone-mediated metabolic pathways, affect children's growth and mediate the development of childhood obesity. Many organic pollutants are recently classified to be EDCs...
December 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30599478/growth-hormone-therapy-in-patients-with-noonan-syndrome
#10
Go Hun Seo, Han-Wook Yoo
Noonan syndrome (NS) is an autosomal dominant disorder that involves multiple organ systems, with short stature as the most common presentation (>70%). Possible mechanisms of short stature in NS include growth hormone (GH) deficiency, neurosecretory dysfunction, and GH resistance. Accordingly, GH therapy has been carried out for NS patients over the last three decades, and multiple studies have reported acceleration of growth velocity (GV) and increase of height standard deviation score (SDS) in both prepubertal and pubertal NS patients upon GH therapy...
December 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30599477/clinical-genetics-of-defects-in-thyroid-hormone-synthesis
#11
Min Jung Kwak
Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%-15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach...
December 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30286575/a-case-of-wolfram-syndrome-with-chronic-renal-failure
#12
Hüseyin Anıl Korkmaz
No abstract text is available yet for this article.
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30286574/testicular-microlithiasis-in-a-boy-with-x-linked-adrenal-hypoplasia-congenita
#13
Anastasios Serbis, Vassiliki Regina Tsinopoulou, Konstantina Mouzaki, Eleni P Kotanidou, Styliani Giza, Assimina Galli-Tsinopoulou
X-linked adrenal hypoplasia congenita (AHC) is a rare disorder that usually presents clinically as adrenal insufficiency in early infancy. It is caused by mutations in the NR0B1 gene which is located on the short arm of chromosome X (Xp21). The NR0B1 gene plays an important role in normal development and function of both the adrenal and gonadal axes and some patients with the disease can present in adolescence with hypogonadotropic hypogonadism. Testicular microlithiasis is an ultrasonographic finding of unknown etiology that has been associated with several benign conditions such as cryptorchidism, congenital adrenal hyperplasia, varicoceles, and testicular malignancy...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30286573/compound-heterozygosity-for-a-whole-gene-deletion-and-p-r124c-mutation-in-cyp21a2-causing-nonclassic-congenital-adrenal-hyperplasia
#14
Hamza Nasir, Syed Ibaad Ali, Naeem Haque, Stefan K Grebe, Salman Kirmani
We present a family with 2 members who received long-term steroid treatment for presumed classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, until molecular testing revealed nonclassic CAH, not necessarily requiring treatment. A 17-year-old male presented to our clinic on glucocorticoid and mineralocorticoid treatment for classic CAH. He was diagnosed at 4 years of age based on mild-moderate elevations of 17-hydroxyprogesterone (17-OHP) and adrenocorticotropic hormone (ACTH), but without evidence of precocious adrenarche/puberty...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30286572/successful-switching-from-insulin-to-sulfonylurea-in-a-3-month-old-infant-with-diabetes-due-to-p-g53d-mutation-in-kcnj11
#15
Jong Seo Yoon, Kyu Jung Park, Young Bae Sohn, Hae Sang Lee, Jin Soon Hwang
Permanent neonatal diabetes mellitus is most commonly caused by mutations in the ATP-sensitive potassium channel (KATP) subunits. Prompt initiation of sulfonylurea treatment can improve glycemic control in children with KCNJ11 mutation. In this report, we present a case of permanent neonatal diabetes caused by a mutation in the KCNJ11 gene that was successfully treated via early switching of insulin to sulfonylurea treatment. A 53-day-old female infant presented with diabetic ketoacidosis. Insulin was administered for the ketoacidosis and blood glucose regulation...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30286571/factors-affecting-height-velocity-in-normal-prepubertal-children
#16
Jun Hui Lee, Seul Ki Kim, Eun Kyoung Lee, Moon Bae Ahn, Shin Hee Kim, Won Kyoung Cho, Kyoung Soon Cho, Min Ho Jung, Byung Kyu Suh
PURPOSE: To analyze the effects of clinical and laboratory factors, including insulinlike growth factor (IGF) levels, on the height velocity of normal prepubertal children. METHODS: Ninety-five healthy prepubertal children (33 boys, 62 girls) were enrolled. The mean chronological age was 6.3±1.4 years, with a height standard deviation score (SDS) of -0.88±0.70. IGF-1, IGF binding protein-3 (IGFBP-3), SDS for anthropometric measurements, and changes in SDS for anthropometric measurements were analyzed for 1 year, and their associations with 1-year height velocity were investigated...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30286570/thyroid-function-in-obese-korean-children-and-adolescents-korea-national-health-and-nutrition-examination-survey-2013-2015
#17
Young Min An, Soon Jeong Moon, Soon Ki Kim, Young Ju Suh, Ji Eun Lee
PURPOSE: In recent years, there has been an increasing focus on thyroid function in pediatric obese patients, but no nationwide study evaluating the relationship between thyroid function and obesity has yet been conducted in Korea. We aimed to evaluate thyroid dysfunction in obese Korean children. METHODS: We analyzed the associations between obesity and thyroid hormone levels among 975 Korean boys and girls aged 10-18 years and who participated in the Korean National Health and Nutrition Examination Survey VI (2013-2015)...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30286569/evaluation-of-bone-mineral-status-in-prepuberal-children-with-newly-diagnosed-type-1-diabetes
#18
Jung Gi Roh, Jong Seo Yoon, Kyu Jung Park, Jung Sub Lim, Hae Sang Lee, Jin Soon Hwang
PURPOSE: Many studies have reported that patients with type 1 diabetes have reduced bone mineral density (BMD). We assessed bone status in prepubertal children with type 1 diabetes mellitus (type 1 DM) at initial diagnosis and investigated factors associated with BMD. METHODS: Prepubertal children (n=29) with newly diagnosed type 1 diabetes from 2006 to 2014 were included. Dual-energy X-ray absorptiometry measured regional and whole-body composition at initial diagnosis...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30286568/therapeutic-potential-of-alpha-1-antitrypsin-in-human-disease
#19
Minsun Kim, Qing Cai, Youngman Oh
Alpha-1 antitrypsin (AAT), an alpha globulin glycoprotein, is a member of the serine protease inhibitor (serpin) superfamily. The clinical significance of AAT is highlighted by AAT deficiency. Genetic deficiency of AAT can present as several neutrophilic diseases associated with emphysema, liver cirrhosis, panniculitis, and systemic vasculitis. Recently, animal and human studies have shown that AAT can control inflammatory, immunological, and tissue-protective responses. In addition, AAT treatment can prevent overt hyperglycemia, increase insulin secretion, and reduce cytokine-mediated apoptosis of pancreatic β-cells in diabetes...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://read.qxmd.com/read/30286567/childhood-diabetes-in-india
#20
Sanjay Kalra, Mudita Dhingra
This review describes the epidemiology of childhood diabetes in India. It focuses on the incidence and prevalence of type 1 diabetes and its complications and comorbid conditions. The review also covers data related to type 2 diabetes, glucose intolerance, and monogenic diabetes from India. A brief discussion regarding unique contributions from India to the world literature is included. The topics discussed include use of camel milk as adjuvant therapy in type 1 diabetes, relevance of the A1/A2 hypothesis, and comprehensive clinico-etiopathological classification of type 1 diabetes...
September 2018: Annals of Pediatric Endocrinology & Metabolism
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