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Journal of Pediatric Endocrinology & Metabolism: JPEM

So Yoon Han, Nan Hee Kim, Do Hoon Kim, Kyungdo Han, Seon Mee Kim
BACKGROUND: The prevalence of childhood obesity has significantly increased in Korea. This study aimed to use data from the 2010 Korea National Health and Nutrition Examination Survey (KNHANES) to investigate the association between sodium (Na) intake and insulin resistance in children and adolescents with obesity. METHODS: The study population consisted of 578 adolescents aged 12-18 years who were enrolled in the 2010 KNHANES. Subjects were classified into the following four groups based on their body mass index (BMI) and homeostatic model assessment-insulin resistance (HOMA-IR) values: normal BMI and HOMA-IR (Group 1), normal BMI and ≥75% HOMA-IR (Group 2), ≥85% BMI and normal HOMA-IR (Group 3) and ≥85% BMI and ≥75% HOMA-IR (Group 4)...
March 15, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Kriti Joshi, Margaret Zacharin
BACKGROUND: Neonatal hyperthyroidism is rare, seen in infants of mothers with Graves' disease (GD), with transplacental transfer of thyroid-stimulating hormone receptor (TSHR) antibodies (TRAbs). We describe a neonate with severe hyperthyroidism due to TRAbs, born to a mother with autoimmune hypothyroidism. CASE PRESENTATION: A baby boy born preterm at 35 weeks had irritability, tachycardia and proptosis after birth. The mother had autoimmune hypothyroidism, from age 10, with thyroxine replacement and normal thyroid function throughout her pregnancy...
March 1, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Rebecka Andreasson, Charlotte Ekelund, Mona Landin-Olsson, Charlotta Nilsson
BACKGROUND: Type 1 diabetes mellitus (T1D) is a metabolic disease causing hyperglycemia due to β-cell destruction. Despite adequate treatment, complications such as diabetic retinopathy (DR) are common. The first aim was to investigate if acute onset of type 1 diabetes differed between those who had developed retinopathy and who had not after 15 years from diagnosis. The second aim was to investigate if mean glycosylated hemoglobin (HbA1c) levels affect the time to development of DR...
March 1, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Salma A Ajarmeh, Eyad M Al Tamimi
Backgorund: Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disease caused by a deletion mutation (155-166del) in exon 3 of the TBCE gene on chromosome 1q42-43. The syndrome is characterized by primary hypoparathyroidism, typical dysmorphic features and severe growth retardation. CASE PRESENTATION: We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia. The patient had the characteristic features of SSS and genetic testing confirmed that he was homozygous for the TBCE mutation...
March 1, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Yasemin Ertaş Öztürk, Rukiye Bozbulut, Esra Döğer, Aysun Bideci, Eda Köksal
BACKGROUND: Childhood obesity and its complications are serious health problems and diet/lifestyle changes can be beneficial for the prevention of diseases. Adaptation of the Healthy Lifestyle-Diet (HLD) Index in accordance with the dietary guidelines for Turkey (TR) and determination of the relationship between metabolic syndrome risk factors in obese children were the aims of this study. METHODS: This study was conducted on 164 overweight or obese children (87 male, 77 female) aged 9-13 years...
March 1, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Ryan J McDonough, Patria Alba, Kavitha Dileepan, Joseph T Cernich
BACKGROUND: The High Dose Adrenocorticotropic Hormone (ACTH) Stimulation Test is the gold standard to diagnose adrenal insufficiency. Normal adrenal function is defined as a peak cortisol response to pharmacologic stimulation with cosyntropin of ≥18 μg/dL. Our practice was to obtain cortisol levels at 0, 30 and 60 min after cosyntropin administration. Once a value of ≥18 μg/dL has been obtained, adrenal insufficiency is ruled out and there is little diagnostic utility in subsequent stimulated levels...
February 24, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Yuqi Yang, Bin Yu, Wei Long, Huaiyan Wang, Ying Wang, Yunjuan Chen
BACKGROUND: The objective of the study was to investigate the changes in amino acid (AAs) values in premature infants. METHODS: A total of 2159 premature and/or low birth weight infants were recruited for this study. They were divided into three groups: premature infants with normal birth weight (G1), simple low birth weight infants (G2) and premature combined with low birth weight infants (G3). The tandem mass spectrometry technique was used to detect the levels of 11 AAs in neonatal blood...
February 22, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Ramank K Marwaha, M K Garg, Sushil Gupta, Mohd Ashraf Ganie, Nandita Gupta, Archna Narang, Manoj Shukla, Preeti Arora, Annie Singh, Aditi Chadha, Ambrish Mithal
BACKGROUND: There is a high prevalence of vitamin D deficiency (VDD) in India. Molecular mechanisms suggest a strong relationship between vitamin D and growth factors. However, there is a paucity of literature with regard to a relationship between insulin-like growth factor-1 (IGF-1), insulin-like growth factor binding protein-3 (IGFBP-3) and vitamin D particularly in subjects with VDD. The objective of the study was to assess the relationship between growth factors and serum vitamin D-parathormone (PTH) status in school girls and study the impact of vitamin D supplementation on growth factors in pre-pubertal girls with VDD...
February 22, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Rohan K Henry, Monika Chaudhari
BACKGROUND: Amiodarone-induced thyrotoxicosis (AIT) type 2, characterized as a destructive thyroiditis, is well described in the medical literature; however, iodine-induced thyrotoxicosis (IIT) is not, though the latter has similar features and can be managed similarly. CASE PRESENTATION: We present a 17-year-old female who presented with a history of an intermittent goiter with thyroid function tests (TFTs): thyroid-stimulating hormone (TSH)<0.015 (0.4-4 μU/mL), free thyroxine (T4)≥6 (0...
February 21, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Mariana Del Pino, Virginia Fano, Paula Adamo
BACKGROUND: Achondroplasia is the most common form of inherited disproportionate short stature. Cross-sectional design studies of height show that, during childhood, height standard deviation scores (SDS) declines steadily and reaches a mean adult height at -6.42 and -6.72 SDS. However, there is a lack of knowledge about longitudinal growth and biological variables during puberty for children with achondroplasia. Here we report the growth velocity and biological parameters during puberty in children with achondroplasia...
February 21, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Yu Ding, Juan Li, Yongguo Yu, Peirong Yang, Huaiyuan Li, Yongnian Shen, Xiaodong Huang, Shijian Liu
BACKGROUND: This study aimed to identify the predictive value of basal sex hormone levels for activation of the hypothalamic-pituitary-gonadal (HPG) axis in girls. METHODS: Gonadotropin-releasing hormone (GnRH) stimulation tests were performed and evaluated in a total of 1750 girls with development of secondary sex characteristics. Correlation analyses were conducted between basal sex hormones and peak luteinizing hormone (LH) levels ≥5 IU/L during the GnRH stimulation test...
February 21, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Sarah E Donoghue, James J Pitt, Avihu Boneh, Susan M White
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that result in reduced cholesterol biosynthesis. The aim of the study was to examine the biochemical and clinical features of SLOS in the context of the emerging evidence of the importance of cholesterol in morphogenesis and steroidogenesis. METHODS: We retrospectively reviewed the records of 18 patients (including four fetuses) with confirmed SLOS and documented their clinical and biochemical features...
February 19, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Hillary Elizabeth Lockemer, Kathryn Maria Sumpter, Sandy Cope-Yokoyama, Abhimanyu Garg
BACKGROUND: Acquired lipodystrophy, craniopharyngioma and chronic inflammatory demyelinating polyneuropathy (CIDP) are individually rare disorders, and have never before been reported in a single patient. CASE PRESENTATION: A 15-year-7 month old Caucasian male presented with lower extremity weakness, frequent falls and abnormal fat distribution occurring over the previous 1 year. He was diagnosed with CIDP, craniopharyngioma and acquired lipodystrophy. The patient underwent tumor debulking and cranial irradiation for the craniopharyngioma, and received monthly intravenous immunoglobulin for the CIDP...
February 19, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Roya Kelishadi, Zahra Heidari, Iraj Kazemi, Tohid Jafari-Koshki, Marjan Mansourian, Mohammad-Esmaeil Motlagh, Ramin Heshmat
BACKGROUND: This study aimed to assess determinants of anthropometric measures in a nationally representative sample of Iranian children and adolescents. METHODS: This nationwide study was conducted among 13,280 students, aged 6-18 years, who were randomly selected from 30 provinces in Iran. Anthropometric measures were determined by calibrated instruments. Demographic and socio-economic (SES) variables, lifestyle behaviors, family history of chronic disease and prenatal factors were studied, as well...
February 16, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Griselle Leon, Elizabeth de Klerk, Josephine Ho, Michelle Jackman, Raylene A Reimer, Kimberly E Connors, Paola Luca
BACKGROUND: Childhood obesity places individuals at risk for a multitude of physical and mental health problems. The aim of this study was to assess the prevalence of obesity related comorbidities diagnosed prior to and after attending a tertiary care pediatric weight management clinic. METHODS: A cross sectional retrospective chart review of patients 2-17 years old seen in the weight management clinic at Alberta Children's Hospital from May 2012 to May 2014. RESULTS: A total of 199 patients were included in the review...
February 13, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Ryota Otsubo, Zhanna Mussazhanova, Yuko Akazawa, Ayako Sato, Katsuya Matsuda, Megumi Matsumoto, Hiroshi Yano, Michiko Matsuse, Norisato Mitsutake, Takao Ando, Daisuke Niino, Takeshi Nagayasu, Masahiro Nakashima
BACKGROUND: There have been great concerns about pediatric thyroid cancers after the accident at the Fukushima Daiichi Nuclear Power Plant in 2011. CASE PRESENTATION: We report a case of a 7-year-old Japanese girl with sporadic papillary thyroid carcinoma (PTC) harboring an ETV6/NTRK3 rearrangement. The patient presented with tumors in both lobes and underwent thyroidectomy followed by radioactive iodine (RAI) ablation. Histopathology showed a classic type of PTC with cervical lymph node metastasis...
February 10, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Anita MacDonald, Rachel Webster, Matthew Whitlock, Adam Gerrard, Anne Daly, Mary Anne Preece, Sharon Evans, Catherine Ashmore, Anupam Chakrapani, Suresh Vijay, Saikat Santra
BACKGROUND: Children with long-chain fatty acid β-oxidation disorders (LCFAOD) presenting with clinical symptoms are treated with a specialist infant formula, with medium chain triglyceride (MCT) mainly replacing long chain triglyceride (LCT). It is essential that the safety and efficacy of any new specialist formula designed for LCFAOD be tested in infants and children. METHODS: In an open-label, 21-day, phase I trial, we studied the safety of a new MCT-based formula (feed 1) in six well-controlled children (three male), aged 7-13 years (median 9 years) with LCFAOD (very long chain acyl CoA dehydrogenase deficiency [VLCADD], n=2; long chain 3-hydroxyacyl CoA dehydrogenase deficiency [LCHADD], n=2; carnitine acyl carnitine translocase deficiency [CACTD], n=2)...
February 9, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Takeshi Yamaguchi, Tomoyuki Hothubo, Shuntaro Morikawa, Akie Nakamura, Toshihiko Mori, Toshihiro Tajima
BACKGROUND: IGSF1 abnormality causes diverse symptoms, including congenital central hypothyroidism (CCH), prolactin hyposecretion, testicular enlargement and delayed puberty. CASE PRESENTATION: Here, we report a case of a male patient who visited our hospital with a chief complaint of abdominal pain and short stature, in whom we identified a novel IGSF1 mutation. He was closely examined because of chronic constipation since infancy, persistent abdominal pain at 14 years of age and marked short stature (-4...
February 9, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Roberto Antonucci, Cristian Locci, Maria Grazia Clemente, Elena Chicconi, Luca Antonucci
Hypovitaminosis D in childhood is a re-emerging public health problem in developed countries. New life style habits, current "epidemics" of obesity in children and adolescents worldwide, and other preventable risk factors may play a role in favoring the occurrence of vitamin D deficiency. In addition to skeletal consequences, hypovitaminosis D has been found to be involved in the development of serious health extra-skeletal problems in childhood, including atopy and autoimmunity. The increasing concerns about the global health impact of vitamin D deficiency make further research necessary to fill the gaps of knowledge in this field, and particularly to establish universally accepted "normal" serum 25(OH)D levels in the pediatric population, and to improve strategies for the screening, prevention and treatment of hypovitaminosis D...
February 5, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Folakemi O Irewole-Ojo, Idowu O Senbanjo, Abiola O Oduwole, Olisamedua F Njokanma
BACKGROUND: Globally, there is a secular trend towards the reduced age for sexual maturity and menarche. This study aimed to determine the current age and factors associated with attainment of various stages of puberty in Nigerian girls. METHODS: This study was a cross-sectional study involving 800 girls aged 6-15 years. The subjects were selected by stratified random sampling method from schools in Oshodi Local Government Area, Lagos State. They were interviewed and a physical examination was carried out to classify them into the various Tanner stages of breast and pubic hair maturational stages...
February 2, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
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