4,325 results match your criteria Journal of Pediatric Endocrinology and Metabolism[Journal]


Validation of the Greek version of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire.

J Pediatr Endocrinol Metab 2019 Feb 9. Epub 2019 Feb 9.

Nursing Department, National and Kapodistrian University of Athens, Athens, Greece.

Background The Quality of Life in Short Stature Youth (QoLISSY) questionnaire is a condition-specific instrument for measuring the health-related quality of life (HRQoL) in short statured children/adolescents from patients' and parents' perspectives. The aim of this study was to investigate the psychometric properties of the Greek version of the QoLISSY questionnaire. Methods The original European QoLISSY scales were translated into Greek following the guidelines for linguistic validation and applied to 184 dyads of children 8-18 years old and their parents, as well as to 14 parents of children 4-7 years old in Greece. Read More

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http://dx.doi.org/10.1515/jpem-2018-0403DOI Listing
February 2019

Maternal factors associated with neonatal vitamin D deficiency.

J Pediatr Endocrinol Metab 2019 Feb;32(2):167-172

Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

Background An adequate maternal vitamin D (vitD) intake is rarely achieved in actual practice. The aim of this study was to assess maternal factors associated with neonatal vitD deficiency. Methods This is a single-institution prospective case-control study. Read More

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http://dx.doi.org/10.1515/jpem-2018-0422DOI Listing
February 2019
2 Reads

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.

J Pediatr Endocrinol Metab 2019 Feb;32(2):101-108

Department of Pediatrics, University of Torino, Torino, Italy.

Background Short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency is a rare inborn error of metabolism with uncertain clinical significance. As it leads to C5-carnitine (i.e. Read More

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http://dx.doi.org/10.1515/jpem-2018-0311DOI Listing
February 2019
1 Read

The effect of PKU diet on the maternal quality of life and social discrimination in relation to their educational status and place of living.

J Pediatr Endocrinol Metab 2019 Feb 7. Epub 2019 Feb 7.

Institute Child of Health, Inborn Errors of Metabolism, Athens, Greece.

Background Phenylketonuria (PKU) is an inherited metabolic disorder characterized by high levels of phenylalanine in the blood and brain, resulting in mental retardation, etc. Dietary treatment with low phenylalanine is the common treatment for this disease. Patients with other metabolic disorders, such as diabetes mellitus, were reported to have a higher percentage of quality-of-life damage (QLD) and social discriminations (SDs). Read More

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http://dx.doi.org/10.1515/jpem-2018-0525DOI Listing
February 2019

A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8.

J Pediatr Endocrinol Metab 2019 Feb 7. Epub 2019 Feb 7.

Department of Paediatric Endocrinology, Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom.

Background Congenital hyperinsulinism (CHI) occurs due to an unregulated insulin secretion from the pancreatic β-cells resulting in hypoglycaemia. Causative mutations in multiple genes have been reported. Phenotypic variability exists both within and between different genetic subgroups. Read More

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http://dx.doi.org/10.1515/jpem-2018-0389DOI Listing
February 2019
1 Read
0.711 Impact Factor

Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature.

J Pediatr Endocrinol Metab 2019 Feb 7. Epub 2019 Feb 7.

Department of Pediatrics, Division of Pediatric Endocrinology, Stanford University School of Medicine, Stanford, CA, USA.

Background Neonatal severe hyperparathyroidism (NSHPT) is commonly treated with either parathyroidectomy or pharmacologic agents with varying efficacy and numerous side effects. Reports of using cinacalcet for NSHPT have increased, however, the effective dose for pediatric patients from the onset of symptoms through infancy has not been established. Case presentation We describe the clinical course of a newborn with a de novo R185Q mutation in the calcium-sensing receptor (CASR) gene, causing NSHPT. Read More

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http://dx.doi.org/10.1515/jpem-2018-0307DOI Listing
February 2019
1 Read

12-Week aerobic exercise and nutritional program minimized the presence of the 64Arg allele on insulin resistance.

J Pediatr Endocrinol Metab 2018 Sep;31(9):1033-1042

Physical Education Department, Federal University of Paraná, Curitiba, Brazil.

Background: The objective of the study was to investigate the response of 64Arg allele carriers of the ADRB3 gene (Trp64Arg polymorphism) in the anthropometric, cardiorespiratory and metabolic variables in overweight adolescents after a 12-week aerobic exercise and nutritional program.

Methods: A total of 92 overweight adolescents, 10-16 years old and of both genders, participated. Body composition, waist circumference (WC), pubertal stage status, blood pressure, glucose, insulin and lipid profile and direct maximal oxygen uptake were assessed at baseline and after 12 weeks of a training program. Read More

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http://dx.doi.org/10.1515/jpem-2018-0066DOI Listing
September 2018

Socioeconomic status of the population - a prime determinant in evaluating iodine nutritional status even in a post salt iodization scenario.

J Pediatr Endocrinol Metab 2019 Feb;32(2):143-149

UGC Emeritus Professor, Endocrinology and Reproductive Physiology Laboratory, Department of Physiology, University College of Science and Technology, University of Calcutta, 92, A.P.C. Road, Kolkata - 700 009, West Bengal, India.

Background To compare the state of iodine nutrition among school age children (SAC) in high- (HSGs) and low-socioeconomic groups (LSGs) during a post iodation scenario in Kolkata. Methods Clinical examinations of the goiter, median urinary iodine (MUI), mean urinary thiocyanate (MUSCN) in SAC (6-12 years) from both sexes in the different socioeconomic groups were carried out and the iodine content of edible salt was measured. Results A total of 5315 SAC, of which 2875 SAC were from a HSG and another 2440 SAC from an LSG were clinically examined for goiter. Read More

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http://dx.doi.org/10.1515/jpem-2018-0344DOI Listing
February 2019
2 Reads

Assessment of biomarkers of inflammation and premature atherosclerosis in adolescents with type-1 diabetes mellitus.

J Pediatr Endocrinol Metab 2019 Feb;32(2):109-113

Children's Mercy Hospitals and Clinics, Kansas City, MO, USA.

Background Type-1 diabetes mellitus (T1DM) causes endothelial dysfunction and early atherosclerosis, which can result in premature coronary artery disease. The aim of this study was to determine the impact of glycemic control, vascular oxidative stress and inflammation on vascular health in adolescents with T1DM. Methods This was a cross-sectional study in adolescents with age- and sex-matched T1DM who were ≥12 years and were at least 2 years post-diagnosis. Read More

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http://dx.doi.org/10.1515/jpem-2018-0192DOI Listing
February 2019

Physical growth and development characteristics of children with Williams syndrome aged 0-24 months in Zhejiang Province.

J Pediatr Endocrinol Metab 2019 Feb 2. Epub 2019 Feb 2.

Department of Pediatric Health Care, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

Background The objective of this study was to evaluate the physical growth and development characteristics of children with Williams syndrome (WS) aged 0-24 months, and provide help for early diagnosis of WS. Methods A total of 32 cases of children (17 males and 15 females) aged 0-24 months who were diagnosed with WS were enrolled between 2008 and 2017. These children were divided into four different groups: 1-6 months (six cases), 7-12 months (eight cases), 12-18 months (nine cases) and 19-24 months (nine cases). Read More

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http://dx.doi.org/10.1515/jpem-2018-0185DOI Listing
February 2019

Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients.

J Pediatr Endocrinol Metab 2019 Feb;32(2):159-165

Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

Background Prader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalities have been described (growth hormone deficiency, hypogonadotropic hypogonadism). The abnormalities of thyroid function are discussed in literature and published data are discordant. Read More

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http://dx.doi.org/10.1515/jpem-2018-0388DOI Listing
February 2019
2 Reads
0.711 Impact Factor

Frequency, clinical characteristics, biochemical findings and outcomes of DKA at the onset of type-1 DM in young children and adolescents living in a developing country - an experience from a pediatric emergency department.

J Pediatr Endocrinol Metab 2019 Feb;32(2):115-119

Saudi Board Family Medicine, Ministry of Health, Qassim, Saudi Arabia.

Background As per the International Society for Pediatrics and Adolescent Diabetes (ISPAD) census, diabetic ketoacidosis (DKA) is the most frequent cause of diabetes-related death. In developing countries, DKA-related mortality rate ranges from 6% to 24% (Onyiriuka AN, Ifebi E. Ketoacidosis at diagnosis of type 1 diabetes in children and adolescents: frequency and clinical characteristics. Read More

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http://www.degruyter.com/view/j/jpem.2019.32.issue-2/jpem-20
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http://dx.doi.org/10.1515/jpem-2018-0324DOI Listing
February 2019
3 Reads

One-year treatment with gonadotropin-releasing hormone analogues does not affect body mass index, insulin sensitivity or lipid profile in girls with central precocious puberty.

J Pediatr Endocrinol Metab 2019 Feb;32(2):181-186

Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Dr. Ricardo Gutiérrez, Gallo, Buenos Aires, Argentina.

Background Puberty is associated with a physiological decline in insulin sensitivity (IS). Overweight (OW) and obesity (OB) are common among girls with central precocious puberty (CPP). CPP is considered a risk factor for metabolic diseases. Read More

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http://dx.doi.org/10.1515/jpem-2018-0290DOI Listing
February 2019

Carney complex due to a novel pathogenic variant in the PRKAR1A gene - a case report.

J Pediatr Endocrinol Metab 2019 Feb;32(2):197-202

Department of Pediatrics of Centro Hospitalar de São João, Porto, Portugal.

Background Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing's syndrome (CS). It may occur sporadically or as part of a familial syndrome called Carney complex (CC). It is a rare entity, with fewer than 750 cases reported. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0199DOI Listing
February 2019
8 Reads
0.711 Impact Factor

Comparative evaluation of neuroendocrine dysfunction in children with craniopharyngiomas before and after mass effects are removed.

J Pediatr Endocrinol Metab 2019 Feb;32(2):127-133

Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, P.R. China, Phone: +13661307913.

Objective To compare the effects of mass effects in situ (MEIS) and after neurosurgery (ANS) on neuroendocrine function in children with craniopharyngioma. Methods We retrospectively investigated 185 cases of children with craniopharyngioma who underwent neurosurgical treatment at the Beijing Tiantan Hospital from 2011 to 2016. The neuroendocrine function of patients was compared before and after tumor removal. Read More

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http://dx.doi.org/10.1515/jpem-2018-0204DOI Listing
February 2019
1 Read

Long-term outcome of hyperthyroidism diagnosed in childhood and adolescence: a single-centre experience.

J Pediatr Endocrinol Metab 2019 Feb;32(2):151-157

Paediatric Department, University Hospital of Leicester - Leicester Royal Infirmary, Leicester, UK.

Background The objective of the study was to evaluate the long-term outcome of paediatric-onset hyperthyroidism with follow-up into adulthood and to identify any early predictors of a need for definitive therapy (DT). Methods In a retrospective analysis of patients diagnosed with hyperthyroidism under the age of 18 years and at follow-up, a comparison was made by categorising them into those who underwent definitive therapy (DT group), i.e. Read More

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http://dx.doi.org/10.1515/jpem-2018-0385DOI Listing
February 2019
1 Read

Functional and endocrine-metabolic oligomenorrhea: proposal of a new diagnostic assessment tool for differential diagnosis in adolescence.

J Pediatr Endocrinol Metab 2019 Feb;32(2):135-142

University of Verona, Verona, Italy.

Background To develop a diagnostic assessment tool, using clinical, biochemical and sonographic markers, to help clinicians in the differential diagnosis of functional oligomenorrhea (FO) and endocrine-metabolic oligomenorrhea (EMO). Methods Sixty-two adolescents with oligomenorrhea without evident hormonal imbalances or severe energy deficit were selected. They were divided into two groups (EMO and FO) and they all underwent the following assessment: physical examination (height, weight, presence of hirsutism or acne), blood exams and transabdominal ultrasonography. Read More

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http://dx.doi.org/10.1515/jpem-2018-0351DOI Listing
February 2019
2 Reads

Hepatopathies in children and adolescents with type 1 diabetes.

J Pediatr Endocrinol Metab 2019 Feb;32(2):121-126

Department of Pediatric Endocrinology, University of Health Sciences, Umraniye Training and Research Hospital, Ümraniye EAH, Çocuk Endokrinolojisi, Adem Yavuz Cad. No: 1, Ümraniye/İST, Istanbul, Turkey, Phone: +216 6507676-4793, Mobile: 0 505 8148802, Fax: +216 6327121.

Background Diabetes and hepatosteatosis are dramatically increasing in childhood. Non-alcoholic fatty liver disease (NAFLD) is defined as a common disorder in adulthood, especially with type-2 diabetes and metabolic syndrome, while very few studies are available on liver health in children with type-1 diabetes. Patients and methods One hundred and ten (52 males and 58 females) patients with type-1 diabetes aged between 8 and 18 years were examined. Read More

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http://dx.doi.org/10.1515/jpem-2018-0255DOI Listing
February 2019
1 Read

Prediabetes in children and adolescents in the United States: prevalence estimates and comorbidities - a population analysis.

J Pediatr Endocrinol Metab 2019 Feb;32(2):187-189

Harrington Heart and Vascular Institute, University Hospitals Cleveland Medical Center, Case Western Reserve University School of Medicine, Cleveland, OH, USA.

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http://dx.doi.org/10.1515/jpem-2018-0374DOI Listing
February 2019

Challenging diagnosis of thyroid hormone resistance initially as Hashimoto's thyroiditis.

J Pediatr Endocrinol Metab 2019 Feb;32(2):203-206

Department of Pediatrics, Division of Pediatric Endocrinology, SUNY Downstate Medical Center, Brooklyn, NY, USA.

Background Resistance to thyroid hormone (RTH) commonly presents with goiter, attention deficit hyperactivity disorder (ADHD), short stature and tachycardia. However, due to its variable presentation with subtle clinical features, a third of the cases are mistreated, typically as hyperthyroidism. Case presentation A 15-year-old female with ADHD and oligomenorrhea was initially diagnosed as Hashimoto's thyroiditis but found to have a rare heterozygous mutation in c803 C>G (p Ala 268 Gly) in the THRβ gene, confirming resistance to thyroid hormone. Read More

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http://dx.doi.org/10.1515/jpem-2018-0284DOI Listing
February 2019
6 Reads

Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation.

J Pediatr Endocrinol Metab 2019 Feb;32(2):191-196

Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan.

Background Silver-Russell syndrome (SRS) is characterized by growth retardation and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients. Case presentation The patient was born at 39 weeks with a birth weight of 1344 g. Subtle clitoromegaly warranted a thorough evaluation, which disclosed 46,XY karyotype, bilateral undescended testes, and a rudimentary uterus. Read More

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http://dx.doi.org/10.1515/jpem-2018-0464DOI Listing
February 2019
6 Reads

IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children.

J Pediatr Endocrinol Metab 2019 Feb;32(2):173-179

Unidade de Endocrinologia Genetica (LIM/25), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Faculdade de Medicina da USP (LIM-25), Av. Dr. Arnaldo, 455 5° andar sala 5340, CEP 01246-903 Sao Paulo, SP, Brazil.

Background When evaluating peripubertal short stature patients, the interpretation of insulin-like growth factor 1 (IGF-1) levels based on chronological age (CA) can be inaccurate due to the influence of sex steroids and, presently, there is no evidence to support the assessment of IGF-1 values according to bone age (BA) and pubertal status (PS). Our objective was to assess the discriminatory performance of IGF-1 levels based on CA, BA and PS in the diagnosis of growth hormone (GH) deficiency. Methods We evaluated IGF-1 levels from 154 peripubertal short stature patients classified as GH deficient (GHD, n=23) or non-GHD (n=131). Read More

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http://dx.doi.org/10.1515/jpem-2018-0435DOI Listing
February 2019

Utilizing serum bicarbonate instead of venous pH to transition from intravenous to subcutaneous insulin shortens the duration of insulin infusion in pediatric diabetic ketoacidosis.

J Pediatr Endocrinol Metab 2018 Dec 7. Epub 2018 Dec 7.

Division of Critical Care Medicine, Children's National Health System, Washington, DC, USA.

Background Standard therapy of diabetic ketoacidosis (DKA) in pediatrics involves intravenous (IV) infusion of regular insulin until correction of acidosis, followed by transition to subcutaneous (SC) insulin. It is unclear what laboratory marker best indicates correction of acidosis. We hypothesized that an institutional protocol change to determine correction of acidosis based on serum bicarbonate level instead of venous pH would shorten the duration of insulin infusion and decrease the number of pediatric intensive care unit (PICU) therapies without an increase in adverse events. Read More

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http://dx.doi.org/10.1515/jpem-2018-0394DOI Listing
December 2018
1 Read

Long-acting intramuscular ACTH stimulation test for the diagnosis of secondary adrenal insufficiency in children.

J Pediatr Endocrinol Metab 2018 Dec 7. Epub 2018 Dec 7.

Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Background The diagnosis of adrenal insufficiency (AI) is based on the basal and stimulated levels of serum cortisol in response to the short Synacthen test (SST). In patients with secondary AI (SAI) due to hypothalamic-pituitary-adrenal (HPA) axis defects, the SST has been validated against the insulin tolerance test (ITT), which is the gold standard. However, injection Synacthen is not easily available in some countries, and endocrinologists often use Acton-Prolongatum (intramuscular [IM] long-acting adrenocorticotropic hormone [ACTH]) in place of Synacthen. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0330DOI Listing
December 2018
3 Reads

Fatty pancreas in relation to insulin resistance and metabolic syndrome in children with obesity.

J Pediatr Endocrinol Metab 2018 Dec 7. Epub 2018 Dec 7.

Department of Flavor Chemistry, National Center Research, Giza, Egypt.

Background Ectopic visceral fat is a major risk factor for obesity complications including insulin resistance and metabolic syndrome. Ultrasonography is a simple bedside screening tool used for the assessment of ectopic visceral fat including fatty pancreas. This study investigates the association between insulin resistance, metabolic syndrome and fatty pancreas detected by ultrasound in children with obesity. Read More

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http://dx.doi.org/10.1515/jpem-2018-0315DOI Listing
December 2018
1 Read

Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia.

J Pediatr Endocrinol Metab 2018 Dec 11. Epub 2018 Dec 11.

UOC Neurochirurgia, Istituto Giannina Gaslini, Genoa, Italy.

Background The genetic causes of abnormal pituitary development have been extensively studied in the last few years. ROBO1 is involved in neurogenesis and axon guidance. Loss-of-function variants in ROBO1 have been associated with pituitary stalk interruption syndrome (PSIS), suggesting that its haploinsufficiency could impair the guidance of hypothalamic axons to the pituitary gland leading to developmental abnormalities. Read More

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http://dx.doi.org/10.1515/jpem-2018-0272DOI Listing
December 2018

Utility of anthropometric indicators to screen for clustered cardiometabolic risk factors in children and adolescents.

J Pediatr Endocrinol Metab 2018 Dec 11. Epub 2018 Dec 11.

Faculty of Medicine, Graduate Program in Medicine and Health, Federal University of Bahia, Salvador, Bahia, Brazil.

Background Anthropometric indicators are associated with cardiometabolic risk factors (CMRF), but there is no consensus as to which indicator is the most suitable to screen for clustered CMRF. This study aimed to evaluate the utility of five anthropometric indicators to screen for clustered CMRF in children and adolescents. Methods A cross-sectional study was conducted in 1139 schoolchildren aged 6-17 years from Northeastern Brazil. Read More

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http://dx.doi.org/10.1515/jpem-2018-0217DOI Listing
December 2018

Adiponectin, leptin and high sensitivity C-reactive protein values in obese children - important markers for metabolic syndrome?

J Pediatr Endocrinol Metab 2018 Dec 8. Epub 2018 Dec 8.

Louis Țurcanu Emergency Hospital for Children, Timișoara, Romania.

Background Obesity is a chronic inflammatory disorder in which leptin, adiponectin and C-reactive protein (CRP) play an important role. This study aimed to investigate the relationship between markers of adiposity such as leptin, adiponectin and high sensitivity C-reactive protein (hs-CRP) in obese children, and to determine whether these adipokines are significant markers in defining metabolic syndrome (MetS) in pediatric population. Methods A cross-sectional study was conducted over a period of 1 year, between July 2013 and June 2014, on 122 cases of obesity in children diagnosed at the Louis Ţurcanu Emergency Hospital for Children Timişoara, in the departments of Diabetes and Nutritional Diseases, Endocrinology and Cardiology. Read More

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http://dx.doi.org/10.1515/jpem-2018-0378DOI Listing
December 2018

Columbus' egg: a practical approach to nutritional management in maple syrup urine disease.

J Pediatr Endocrinol Metab 2018 Dec 11. Epub 2018 Dec 11.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1515/jpem-2018-0485DOI Listing
December 2018

Using the PHQ-9 and GAD-7 to screen for acute distress in transgender youth: findings from a pediatric endocrinology clinic.

J Pediatr Endocrinol Metab 2018 Dec 11. Epub 2018 Dec 11.

Oregon Health and Science University, Department of Pediatrics, Division of Psychology, Portland, OR, USA.

Background Transgender and gender nonconforming (TGNC) youth are at higher risk for anxiety and depression than their peers. The referral rate for those seeking specialty medical care has rapidly increased in recent years. This paper examines the use of brief screening tools with clear cutoffs to assist physicians in rapidly identifying TGNC youth in acute distress. Read More

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http://dx.doi.org/10.1515/jpem-2018-0408DOI Listing
December 2018
1 Read

Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2.

J Pediatr Endocrinol Metab 2018 Dec 11. Epub 2018 Dec 11.

Department of Pediatrics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.

Background Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by CYP19A1 overexpression. Clinical manifestations of AEXS include pre- or peri-pubertal gynecomastia, advanced bone age and compromised adult height. Case presentation Here we report an 8-year-old boy diagnosed with AEXS by chromosomal array that revealed a 1. Read More

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http://dx.doi.org/10.1515/jpem-2018-0266DOI Listing
December 2018
6 Reads

Skin autofluorescence in children with and without obesity.

J Pediatr Endocrinol Metab 2018 Dec 11. Epub 2018 Dec 11.

Department of Pediatrics, St. Antonius Hospital, Nieuwegein, The Netherlands.

Background Obesity is associated with oxidative stress, which is related to increased advanced glycation end product (AGE) formation. AGEs accumulated in skin collagen can be measured with skin autofluorescence (sAF). There are conflicting reports on the influence of obesity on sAF in adults and no data in children. Read More

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http://dx.doi.org/10.1515/jpem-2018-0237DOI Listing
December 2018

A Turkish girl with H syndrome: stunted growth and development of autoimmune insulin dependent diabetes mellitus in the 6th year of diagnosis.

J Pediatr Endocrinol Metab 2018 Dec 5. Epub 2018 Dec 5.

Koc University School of Medicine, Istanbul, Turkey.

Background H syndrome ([OMIM] 602782) is an autosomal recessive disorder with systemic manifestations and characteristic skin lesions, caused by mutations of the SLC29A3 gene. Short stature and diabetes mellitus are the major endocrine problems related to H syndrome, however, clear data from clinical follow-up of H syndrome patients is lacking in the literature. Case presentation Here, we present follow-up of a Turkish girl diagnosed with H syndrome at the age of 10 with a homozygous 310(c. Read More

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http://dx.doi.org/10.1515/jpem-2018-0380DOI Listing
December 2018
4 Reads

Status and trends in the use of insulin analogs, insulin delivery systems and their association with glycemic control: comparison of the two consecutive recent cohorts of Japanese children and adolescents with type 1 diabetes mellitus.

J Pediatr Endocrinol Metab 2018 Dec 5. Epub 2018 Dec 5.

The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT), Kyoto, Japan.

Background Treatment for type 1 diabetes mellitus (T1DM) has greatly changed by the general use of insulin analogs and continuous subcutaneous insulin infusion (CSII). To investigate whether these advances have been translated into continued improvement in glycemic control in Japanese children and adolescents, we analyzed the registration data of the two consecutive recent cohorts of Japanese childhood-onset T1DM patients. Methods The registration data including hemoglobin A1c (HbA1c), hypoglycemia and insulin regimen were compared between the two cohorts (862 patients in the 2008 cohort and 1090 in the 2013 cohort). Read More

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http://dx.doi.org/10.1515/jpem-2018-0329DOI Listing
December 2018
2 Reads

The effect of thyroid functions on osteopenia of prematurity in preterm infants.

J Pediatr Endocrinol Metab 2018 Dec 4. Epub 2018 Dec 4.

Division of Neonatology, Zekai Tahir Burak Women's Health Training and Research Hospital, Faculty of Medicine, University of Health Sciences, Altıntag, Ankara, Turkey.

Background It is known that thyroid hormones have effects on bone development. In particular, the effect of thyroid hormones on osteopenia of prematurity (OOP) has not been examined in preterm infants. Our study aimed to examine the relationship between OOP and congenital hypothyroidism (CH) in preterm infants. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0429DOI Listing
December 2018
13 Reads

Assessment of dental caries and gingival status among a group of type 1 diabetes mellitus and healthy children of South India - a comparative study.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1305-1310

Department of Pedodontics and Preventive Dentistry, The Oxford Dental College, Hospital and Research Centre, Bangalore, Karnataka, India.

Background Diabetes mellitus is a metabolic disorder. However, dental caries and periodontal health have not attracted much interest in diabetic patients. This study was carried out to assess the dental caries status and gingival health status in children with type 1 diabetes mellitus (T1DM). Read More

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http://dx.doi.org/10.1515/jpem-2018-0335DOI Listing
December 2018
6 Reads
0.711 Impact Factor

Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1381-1386

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Background Peutz-Jeghers syndrome (PJS) is characterized by gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. Patients with PJS can develop large calcifying Sertoli cell tumors (LCSTs). Case presentation A patient presented at 3 years of age with delayed development, hypermobility and later also with tall stature and advanced bone age. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0265DOI Listing
December 2018
13 Reads

Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY).

J Pediatr Endocrinol Metab 2018 Dec;31(12):1295-1304

Health Sciences University Izmir Tepecik Training and Research Hospital, Genetic Diagnostic Center, Izmir, Turkey.

Background Maturity-onset diabetes of the young (MODY) is a common form of monogenic diabetes. Fourteen genes have been identified, each leading to cause a different type of MODY. The aims of this study were to reveal both known and novel variants in MODY genes in patients with MODY using targeted next generation sequencing (NGS) and to present the genotype-phenotype correlations. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0184DOI Listing
December 2018
16 Reads

Dysregulated glucose homeostasis in congenital central hypoventilation syndrome.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1325-1333

Department of Endocrinology and Diabetes, Lady Cilento Children's Hospital, South Brisbane, Queensland, Australia.

Background Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic control. A hypoglycaemic seizure in a 4-year-old girl with CCHS led to a more detailed examination of glycaemic control in a cohort of children with CCHS. Methods We conducted an observational cohort study of glucose homeostasis in seven children (3 months to 12 years) with genetically confirmed CCHS using a combination of continuous glucose monitoring (CGM), fasting studies and oral glucose tolerance test (OGTT). Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0086DOI Listing
December 2018
8 Reads

Insulin resistance in children with familial hyperlipidemia.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1349-1354

Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.

Background The aim of the study was to investigate whether there is insulin resistance in children with familial hyperlipidemia (FHL) and to determine the factors affecting insulin resistance. Methods Hyperlipidemic children aged between 4 and 18 years and followed up with an FHL diagnosis were included in the study. The children of adults followed up with an FHL diagnosis were also recruited after the screening period. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0337DOI Listing
December 2018
12 Reads

Early higher dosage of alglucosidase alpha in classic Pompe disease.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1343-1347

Department of Pediatrics, University of Torino, Torino, Italy.

Background With conventional enzyme replacement therapy (ERT), the clinical prognosis of classic Pompe disease is often unsatisfactory. About half the patients treated with ERT at the recommended dosage (20 mg/kg every other week) require ventilatory support within the first years of life. The heterogeneous response to ERT has been related to different factors, including cross-reactive immunologic material (CRIM) status and age at ERT initiation. Read More

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http://dx.doi.org/10.1515/jpem-2018-0336DOI Listing
December 2018
1 Read

Baseline characteristics of gender dysphoric youth.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1367-1369

Riley Hospital for Children, Department of Pediatric Endocrinology, Indianapolis, IN, USA.

Background Limited information is available regarding baseline characteristics of children and adolescents with gender dysphoria (GD). The purpose of this retrospective study was to describe baseline characteristics of pediatric patients referred for GD. Methods A retrospective chart review of pediatric patients with GD referred to the pediatric endocrine clinic between 2002 and 2017 was conducted. Read More

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http://dx.doi.org/10.1515/jpem-2018-0250DOI Listing
December 2018

Do parents of children with metabolic diseases benefit from the Triple P - Positive Parenting Program? A pilot study.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1335-1342

Department of Youth Mental Health, Collaborative Antwerp Psychiatric Research Institute, University of Antwerp, Wilrijk, Belgium.

Background Parents of children with metabolic diseases report more parenting stress, anxiety, depression and dysfunctional parenting styles than parents of children without metabolic diseases. In addition, their children have more behavioral problems. Beside the fact that metabolic diseases are rare, they form a relatively large proportion in the morbidity and mortality of chronically ill children. Read More

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http://dx.doi.org/10.1515/jpem-2018-0219DOI Listing
December 2018
3 Reads

Insulin resistance linked to subtle myocardial dysfunction in normotensive Turner syndrome young patients without structural heart diseases.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1355-1361

Pediatrics' Department, Division of Cardiology, Faculty of Medicine, Cairo University, Cairo, Egypt.

Background Turner syndrome (TS) patients have increased cardiovascular risk. This cardiovascular risk is famously attributed to structural abnormalities of the left side of the heart such as aortic stenosis and aortic coarctation. However, due to insulin resistance and subsequent pathogenic mechanisms, normotensive TS patients without structural abnormalities may develop varying degrees of myocardial dysfunction. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
Publisher Site
http://dx.doi.org/10.1515/jpem-2018-0207DOI Listing
December 2018
14 Reads

Arterial stiffness as a measure of cardiovascular risk in obese adolescents and adolescents with diabetes type 1.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1315-1323

Department of Paediatric Endocrinology and Diabetes, Zagreb University Hospital Centre, School of Medicine, Zagreb, Croatia.

Background Cardiovascular disease (CVD) is the end result of vascular aging and atherosclerosis, having its origins in childhood. The aim of our study was to compare arterial stiffness (AS) and intima-media thickness (IMT) as markers of an early vascular damage between obese adolescents, adolescents with diabetes type 1 (T1D) and lean control subjects. Methods We analyzed AS and IMT in 68 obese adolescents (13. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
Publisher Site
http://dx.doi.org/10.1515/jpem-2018-0137DOI Listing
December 2018
9 Reads

Acetylcholinesterase activity and bone biochemical markers in premature and full-term neonates.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1363-1366

Department of Biological Chemistry, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Background Almost 30% of the premature infants have low body weight and bone mineral density due to prematurity. There is no consensus of screening premature neonates for metabolic bone disease; therefore, it is important to investigate the use of bone biochemical parameters. Latest studies involved the activity of acetylcholinesterase as a mediator in bone remodeling. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0426DOI Listing
December 2018
9 Reads

Early adiposity rebound in patients with Prader-Willi syndrome.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1311-1314

Nakagawanosato Ryoiku Center, Saitama, Japan.

Background Prader-Willi syndrome (PWS) is associated with marked obesity that can lead to severe complications such as diabetes mellitus. Early adiposity rebound (AR) is associated with future obesity and an increased risk of diabetes mellitus and metabolic syndrome. Previous reports have shown that the onset of AR occurred earlier in diseases that cause obesity. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0301DOI Listing
December 2018
12 Reads

A case of an infant with extremely low birth weight and hypothyroidism associated with massive cutaneous infantile hemangioma.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1377-1380

Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Matsuoka, Eiheiji-cho, Yoshida-gun, Fukui, Japan.

Background Although hepatic infantile hemangioma (IH) may correlate with consumptive hypothyroidism consequent to the overexpression of thyroid hormone inactivating enzyme by hemangioma cells, hypothyroidism has been rarely recognized in infants with cutaneous hemangioma. Case presentation A male infant born at 28 weeks of gestational age with an extremely low birth weight (775 g) developed a massive cutaneous hemangioma on his neck and severe abdominal distension. Imaging examinations detected a small mass lesion in the brain but no hepatic hemangioma. Read More

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http://dx.doi.org/10.1515/jpem-2018-0369DOI Listing
December 2018
6 Reads

Cardiometabolic risk factors in preschool children with abdominal obesity from Medellín, Colombia.

J Pediatr Endocrinol Metab 2018 Nov;31(11):1179-1189

Línea de alternativas terapéuticas y alimentarias, Grupo de Ofidismo, Escuela de Microbiología, Universidad de Antioquia UdeA, Calle 70 No. 52-21, Medellín, Colombia.

Background Abdominal obesity (AO) is linked to inflammation and insulin resistance (IR). However, there is limited information on whether preschoolers with AO present these risk factors. We evaluated the association between AO and cardiovascular risk factors in preschoolers. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0140DOI Listing
November 2018
3 Reads

The prevalence and volumetry of pituitary cysts in children with growth hormone deficiency and idiopathic short stature.

J Pediatr Endocrinol Metab 2018 Nov;31(11):1267-1271

Department of Pediatrics, Division of Pediatric Endocrinology, New York Medical College, Valhalla, NY, USA.

Background Pituitary cysts have been speculated to cause endocrinopathies. We sought to describe the prevalence and volumetry of pituitary cysts in patients with growth hormone deficiency (GHD) and idiopathic short stature (ISS). Methods Six hundred and eighteen children evaluated for growth failure at the Division of Pediatric Endocrinology at New York Medical College between the years 2002 and 2012, who underwent GH stimulation testing and had a brain magnetic resonance imaging (MRI) prior to initiating GH treatment were randomly selected to be a part of this study. Read More

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
Publisher Site
http://dx.doi.org/10.1515/jpem-2017-0437DOI Listing
November 2018
11 Reads