4,357 results match your criteria Journal of Pediatric Endocrinology and Metabolism[Journal]


Clinical utility of stimulation tests in infants with suspected adrenal insufficiency (AI).

J Pediatr Endocrinol Metab 2019 Apr 22. Epub 2019 Apr 22.

Hassenfeld Childrens' Hospital, Division of Pediatric Endocrinology and Diabetes, New York University School of Medicine, 135 E 31st street, L-2, New York 10016-6402, NY, USA.

Diagnosis of adrenal insufficiency (AI) in infants can be difficult. While a low random cortisol can signal AI, often confirmatory tests are required when clinical suspicion is strong but the cortisol levels are equivocal. Several studies have demonstrated that in sick preterm infants, there is relative adrenal insufficiency (RAI) defined as an inadequate cortisol production relative to the degree of stress or illness, a condition which can last for several weeks, while in term infants the adrenal axis is mature at birth (Bagnoli F, Mori A, Fommei C, Coriolani G, Badii S, et al. Read More

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http://dx.doi.org/10.1515/jpem-2019-0025DOI Listing

Effect of metformin on clinical and biochemical hyperandrogenism in adolescent girls with type 1 diabetes.

J Pediatr Endocrinol Metab 2019 Apr 22. Epub 2019 Apr 22.

Department of Pediatric Endocrinology, DEMPU, Cairo University, Cairo, Egypt.

Background Hyperandrogenism with or without polycystic ovarian syndrome is seen in adolescents with type 1 diabetes (T1D), especially those with suboptimal control. Objective To assess the effect of metformin on hyperandrogenism and ovarian function in adolescents with T1D. Methods This prospective study included 28 T1D females showing signs of hyperandrogenism. Read More

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http://dx.doi.org/10.1515/jpem-2018-0430DOI Listing

Growth failure in infancy and early adiposity rebound.

J Pediatr Endocrinol Metab 2019 Apr 5. Epub 2019 Apr 5.

Department of Pediatrics, Dokkyo Medical University School of Medicine, Mibu, Tochigi-ken, Japan.

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http://dx.doi.org/10.1515/jpem-2018-0526DOI Listing

The importance of anthropological methods in the diagnosis of rare diseases.

J Pediatr Endocrinol Metab 2019 Apr;32(4):311-320

Department of Pediatric, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.

Most of inborn errors of metabolism (IEMs) and rare endocrine-metabolic diseases (REMD) are rare diseases. According to the European Commission on Public Health, a rare disease is defined, based on its prevalence, as one affecting one in 2000 people. Many IEMs affect body stature, cause craniofacial abnormalities, and disturb the developmental process. Read More

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http://dx.doi.org/10.1515/jpem-2018-0433DOI Listing

Analysis of diabetes-associated autoantibodies in children and adolescents with autoimmune thyroid diseases.

J Pediatr Endocrinol Metab 2019 Apr;32(4):355-361

Department of Pediatrics, Endocrinology and Diabetes with a Cardiology Unit, Medical University of Białystok, ul. Waszyngtona 17, Białystok 15-274, Poland.

Background Zinc transporter 8 autoantibodies (ZnT8Abs) together with glutamic acid decarboxylase autoantibodies (GADAbs), insulinoma antigen 2 autoantibodies (IA-2Abs) and insulin autoantibodies (IAbs) are markers of type 1 diabetes mellitus (T1DM). We studied the prevalence of ZnT8Ab in children with autoimmune thyroid diseases (AITDs) to assess the association of AITDs and T1DM at the serological level. Methods The study groups consisted of 44 children with Graves' disease (GD), 65 children with Hashimoto's thyroiditis (HT), 199 children with T1DM with or without AITDs and 58 control children. Read More

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http://dx.doi.org/10.1515/jpem-2018-0367DOI Listing
April 2019
1 Read

A case report and literature review of monoallelic mutation of GHR.

J Pediatr Endocrinol Metab 2019 Apr;32(4):415-419

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Background Monoallelic mutations of GHR have been described in idiopathic short stature (ISS), although the significance of these remain unclear. We report a case of ISS with novel monoallelic S219L mutation of GHR and discuss the possible significance of monoallelic GHR mutation in ISS. Case presentation The proband, a 13. Read More

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http://dx.doi.org/10.1515/jpem-2018-0365DOI Listing
April 2019
5 Reads

Classical galactosemia patients can achieve high IQ scores.

J Pediatr Endocrinol Metab 2019 Apr;32(4):399-401

Institute of Child Health, Inborn Errors of Metabolism, Aghia Sophia Children's Hospital, Athens, Greece.

Very recently, it was reported that a patient with classical galactosemia and a very high intelligence quotient (IQ) score obtained a university degree. In the present study, two siblings with classical galactosemia (homozygous for Q188R mutation) received upper normal IQ scores when tested with psychometric tools. Additionally, the same IQ scores were determined in their healthy brother when tested at the same age. Read More

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http://dx.doi.org/10.1515/jpem-2018-0515DOI Listing
April 2019
2 Reads

Atypical presentation of Leydig cell tumour in three prepubertal patients: diagnosis, treatment and outcomes.

J Pediatr Endocrinol Metab 2019 Apr;32(4):369-374

Department of Paediatric Surgery, Section of Paediatric Urology, Hospital Materno-Infantil Teresa Herrera, Complexo Hospitalario Universitario de A Coruña (CHUAC), A Coruña, Spain.

Background Testicular tumours are uncommon in children, accounting for only 1% of all childhood tumours. Prepubertal Leydig cell tumours actively secrete testosterone and as a result, patients typically present with isosexual precocious pseudopuberty, this being the first cause of consultation. We present three cases of Leydig cell tumours in prepubertal patients with an atypical presentation. 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-2018-0467DOI Listing
April 2019
8 Reads

Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.

J Pediatr Endocrinol Metab 2019 Apr;32(4):391-397

Department of Endocrinology and Metabolism, Seth G S Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.

Background Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing's syndrome (CS) in childhood. We describe a case series of patients presenting at our centre along with a review of the literature. Methods A retrospective analysis of six index cases and one family were done for demographic features, hormonal profile, imaging findings, genetic mutation status, histopathologic findings and follow-up details. Read More

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http://dx.doi.org/10.1515/jpem-2018-0413DOI Listing
April 2019
1 Read

PON1 arylesterase activity, HDL functionality and their correlation in malnourished children.

J Pediatr Endocrinol Metab 2019 Apr;32(4):321-326

Department of Biochemistry, S.R.T.R. Government Medical College, Ambajogai, Maharashtra, India.

Background The study was done to assess high-density lipoprotein (HDL) functionality and to correlate this with paraoxonase 1 (PON1) activity in malnourished children. It aimed to find the effect of malnutrition on changes in PON1 activity, HDL functionality, lipid profile and lipid hydroperoxide formation. Methods This case control study included 30 malnourished children (up to age 5 years) and 30 healthy controls in the paediatric inpatient department of SRTR Government Medical College Ambajogai, India. Read More

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http://dx.doi.org/10.1515/jpem-2018-0327DOI Listing

Endocrine consequences of neuroblastoma treatment in children: 20 years' experience of a single center.

J Pediatr Endocrinol Metab 2019 Apr;32(4):347-354

Division of Pediatric Endocrinology, University Department of Pediatrics, CHU Liège, Liège, Belgium.

Background Neuroblastoma (NBL) is a child neoplasia affecting extracranial tissue of neuroectodermal origin. It accounts for 10% of solid malignancies in children and is characterized by a survival rate approaching 70%, confronting physicians with the emergence of an adult survivor population who have been previously exposed to surgery, cytotoxic drugs, radiation therapy or metaiodobenzylguanidine (MIBG) therapy. All these treatments potentially affect the endocrine system. Read More

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http://dx.doi.org/10.1515/jpem-2018-0273DOI Listing
April 2019
1 Read

Sex assignment practice in disorders of sexual differentiation: survey results from paediatric endocrinologists in the Arab region.

J Pediatr Endocrinol Metab 2019 Jan;32(1):75-82

Pediatric Endocrinology Department, Al Qassimi Hospital, Sharjah, UAE.

Background Sex assignment is a major issue in disorders of sexual differentiation (DSD). Not all conditions of DSD have clear recommendations on assignment and timing of surgery. Reports about sex assignment practice and the influence of culture and religion in the Arab region are scarce. Read More

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http://dx.doi.org/10.1515/jpem-2018-0323DOI Listing
January 2019
1 Read

No clinical utility of common polymorphisms in IGF1, IRS1, GCKR, PPARG, GCK1 and KCTD1 genes previously associated with insulin resistance in overweight children from Romania and Moldova.

J Pediatr Endocrinol Metab 2019 Jan;32(1):33-39

Center of Genomic Medicine, University of Medicine and Pharmacy "Victor Babes", Timisoara, Romania.

Background Previous genome-wide association studies (GWAS) identified IGF1, IRS1, GCKR, PPARG, GCK1 and KCTD1 as candidate genes for insulin resistance and type 2 diabetes (T2D). We investigated the associations of these previously reported common variants in these genes with insulin resistance in overweight children from Romania and Moldova. Methods Six single nucleotide polymorphisms (SNPs), IGF1 (rs35767), IRS1 (rs2943634), GCKR (rs780094), PPARG (rs1801282), GCK1 (rs1799884) and KCTD15 (rs29941), were genotyped in 100 overweight children along with clinical and metabolic parameters. Read More

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http://dx.doi.org/10.1515/jpem-2018-0288DOI Listing
January 2019
1 Read

Evaluation of long-term follow-up and methimazole therapy outcomes of pediatric Graves' disease: a single-center experience.

J Pediatr Endocrinol Metab 2019 Apr;32(4):341-346

Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Clinic of Pediatric Endocrinology, Altındağ/Ankara, Turkey.

Background The management options for Graves' disease in children are limited and there is controversy regarding optimal treatment. Remission rate with anti-thyroid drug (ATD) treatment in children is said to be lower than in adults. Definitive treatments are effective, but they often result in permanent hypothyroidism. Read More

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http://dx.doi.org/10.1515/jpem-2018-0495DOI Listing
April 2019
8 Reads

Pitfalls in the diagnosis of insulin autoimmune syndrome (Hirata's disease) in a hypoglycemic child: a case report and review of the literature.

J Pediatr Endocrinol Metab 2019 Apr;32(4):421-428

Pediatric Endocrinology Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo/SP, Brazil.

Background Insulin autoimmune syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycemia (HH) not addressed as a potential differential diagnosis in current pediatric guidelines. We present a case of IAS in a child with no previous history of autoimmune disease, no previous intake of triggering medications and absence of genetic predisposition. Case presentation A 6-year-old boy presented with recurrent HH (blood glucose of 26 mg/dL [1. Read More

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http://dx.doi.org/10.1515/jpem-2018-0441DOI Listing
April 2019
2 Reads

Comparing the validity of continuous metabolic syndrome risk scores for predicting pediatric metabolic syndrome: the CASPIAN-V study.

J Pediatr Endocrinol Metab 2019 Apr;32(4):383-389

Child Department of Pediatrics, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran, Phone: +983137925281.

Background The aim of this study was to compare the validity of various approaches to pediatric continuous metabolic syndrome (cMetS) scores including siMS scores (2 waist/height + fasting blood glucose [FBG]/5.6 + triglycerides [TG]/1.7 + systolic blood pressure [BP]/130 + high-density lipoprotein [HDL]/1. Read More

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http://dx.doi.org/10.1515/jpem-2018-0384DOI Listing

Myocardial dysfunction in relation to serum thiamine levels in children with diabetic ketoacidosis.

J Pediatr Endocrinol Metab 2019 Apr;32(4):335-340

Clinical Pathology Department, Faculty of Medicine for Girls, Al-Azhar University, Cairo, Egypt.

Background Thiamine deficiency is commonly reported in patients with diabetes especially during diabetic ketoacidosis (DKA) that could attribute to myocardial dysfunction in those patients. However, there is limited data regarding its relation to myocardial function among those patients. This study aimed to explore the association between myocardial function and serum thiamine levels in children with type 1 diabetes mellitus (DM). Read More

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http://dx.doi.org/10.1515/jpem-2018-0320DOI Listing
April 2019
3 Reads

Prevalence of dyslipidemia and factors affecting dyslipidemia in young adults with type 1 diabetes: evaluation of statin prescribing.

J Pediatr Endocrinol Metab 2019 Apr;32(4):327-334

Department of Adult Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

Background There is limited information about cardiovascular complications among young adults (YA) with type 1 diabetes mellitus (T1DM) who are transitioning from pediatric to adult care. We aimed to study the prevalence and associated factors of dyslipidemia (DLD) and statin treatment in these patients. Methods We recruited 129 YA with T1DM aged 15-25 years. Read More

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http://dx.doi.org/10.1515/jpem-2018-0383DOI Listing
April 2019
2 Reads

Idiopathic gonadotropin-independent precocious puberty - is regular surveillance required?

J Pediatr Endocrinol Metab 2019 Apr;32(4):403-407

Consultant Paediatric Endocrinologist, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.

Context Germ cell tumours (GCTs) secreting β-human chorionic gonadotropin (β-HCG) are a rare cause of gonadotropin-independent precocious puberty (GIPP). Case description A 5.7-year-old boy presented with GIPP. Read More

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http://dx.doi.org/10.1515/jpem-2018-0419DOI Listing
April 2019
1 Read

Adrenal function of extremely premature infants in the first 5 days after birth.

J Pediatr Endocrinol Metab 2019 Apr;32(4):363-367

Department of Women's and Children's Health, Institute of Translational Medicine, University of Liverpool, Liverpool, UK.

Background There is limited data on adrenal function in the early days after birth in extremely premature infants. The relationship between plasma adrenocorticotrophic (ACTH) and cortisol hormone is central to the integrity of the hypothalamic-pituitary-adrenal (HPA) axis yet there are no studies examining this relationship in prematurity. Methods The aim of this study was to examine the relationship between early morning plasma cortisol and ACTH concentrations during the first 5 days after birth in infants born at less than 28 weeks' gestation and to identify any independent factors that determine plasma cortisol levels in these infants during extreme prematurity. Read More

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http://dx.doi.org/10.1515/jpem-2018-0417DOI Listing
April 2019
5 Reads

The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population.

J Pediatr Endocrinol Metab 2019 Apr;32(4):375-382

Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Background Cystinosis is a rare autosomal-recessive disorder caused by a defective transport of cystine across the lysosomal membrane. Previous studies have mapped cystinosis to the CTNS gene which is located on chromosome 17p13, and various CTNS mutations have been identified to correlate them with this disease. Methods We analyzed six patients from five unrelated families who were diagnosed with cystinosis in our hospital. Read More

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http://dx.doi.org/10.1515/jpem-2018-0263DOI Listing
April 2019
8 Reads
0.711 Impact Factor

Improved adherence and growth outcomes with jet-delivered growth hormone.

J Pediatr Endocrinol Metab 2019 Mar;32(3):207-213

London Centre for Paediatric Endocrinology, Great Ormond and University College Hospitals, London, UK.

Background We previously reported improved persistence and adherence to daily recombinant growth hormone (rGH) in children using jet transjection delivery compared to using needle-based devices. This study examines the relationship between improved adherence and medium-term growth outcomes in children receiving jet-delivered rGH (JrGH) at a single centre. Methods This was a retrospective longitudinal follow-up study of children (<16 years) treated with daily JrGH (somatropin; Ferring Pharmaceuticals) in the form of Zomacton® with the Zomajet® device. Read More

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http://dx.doi.org/10.1515/jpem-2018-0067DOI Listing

Growth hormone deficiency in children with antenatal Bartter syndrome.

J Pediatr Endocrinol Metab 2019 Mar;32(3):225-231

Pediatric Nephrology Unit, Ha' Emek Medical Center, Afula, Israel.

Background Bartter syndrome is a group of rare autosomal-recessive renal disorders characterized by hypokalemic hypochloremic metabolic alkalosis associated with severe growth failure; the exact causes for growth retardation are unclear. GH deficiency (GHD) has been reported in a few cases of Bartter syndrome. The aim of our study was to determine the prevalence of GHD in children with antenatal Bartter syndrome and to assess their response to GH therapy. Read More

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http://dx.doi.org/10.1515/jpem-2018-0188DOI Listing
March 2019
1 Read

Adiposity and adipocytokines: the moderator role of cardiorespiratory fitness and pubertal stage in girls.

J Pediatr Endocrinol Metab 2019 Mar;32(3):239-246

Project Sport Brazil (PROESP-Br), Post Graduation Program in Human Movement Sciences, School of Physical Education, Physiotherapy and Dance, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.

Background Cardiorespiratory fitness (CRF) and pubertal stages have been related to many health outcomes, including obesity and adipocytokines. Thus, the present study aimed to analyze the moderator role of CRF and pubertal stage in the relationship between adiposity and adipocytokines in girls. Method This cross-sectional study was performed with 42 pre-pubertal girls aged from 7 to 11 years and 54 post-pubertal girls aged from 13 to 17 years. Read More

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http://dx.doi.org/10.1515/jpem-2018-0407DOI Listing
March 2019
1 Read

Studying the effect of large neutral amino acid supplements on oxidative stress in phenylketonuric patients.

J Pediatr Endocrinol Metab 2019 Mar;32(3):269-274

Division of Physiology, Harran University, Sanlıurfa, Turkey.

Background Oxidative stress may be one of the causes responsible for mental retardation in phenylketonuria (PKU) patients. Phenylalanine (Phe) reduces antioxidant defense and promotes oxidative stress by causing increase in reactive oxygen-nitrogen species. Our study aimed to investigate the effect of different treatments (amino acid mixture/large neutral amino acid [LNAA] supplements) on oxidative stress which are applied to late-diagnosed patients. Read More

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http://dx.doi.org/10.1515/jpem-2018-0454DOI Listing
March 2019
6 Reads

A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing.

J Pediatr Endocrinol Metab 2019 Mar;32(3):253-258

Newborn Screening Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang District, Beijing, China.

Background A provisionary screening programme for 21-hydroxylase deficiency (21-OHD) was initiated in Beijing in 2014. The aim of this study was to investigate the incidence and the associated clinical characteristics of neonatal congenital adrenal hyperplasia (CAH) in Beijing and to provide evidence-based guidance for its application in CAH screening. Methods Live birth newborns (n=44,360) were screened for CAH in Beijing from July 2014 to April 2018. 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-2018-0342DOI Listing
March 2019
7 Reads

Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature.

J Pediatr Endocrinol Metab 2019 Mar;32(3):259-267

Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University Hospital Heidelberg, Heidelberg, Germany.

Background 11β-hydroxylase deficiency (11βOHD) is a rare disease representing the second most common cause of congenital adrenal hyperplasia (CAH) (5-8%) with an incidence of about 1:100,000. In contrast to 21-hydroxylase deficiency (21OHD), 11βOHD is not included in neonatal screening programmes. The objective of this study was to demonstrate the typical features of male patients with 11βOHD. Read More

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http://dx.doi.org/10.1515/jpem-2018-0298DOI Listing

Serum omentin-1 levels in obese children.

J Pediatr Endocrinol Metab 2019 Mar;32(3):247-251

Department of General Pediatrics Clinic, Istanbul Bagcilar Training and Research Hospital, Istanbul, Turkey.

Background Obesity is an important cause of morbidity, and it has an increasing frequency in childhood. Studies have reported that 33% of adults and 20-27% of children and adolescents are obese. Recently, it has been shown that the prevalence of obesity in the childhood group is higher than the past years. Read More

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http://dx.doi.org/10.1515/jpem-2018-0231DOI Listing
March 2019
1 Read

Evaluating the four most important salivary sex steroids during male puberty: testosterone best characterizes pubertal development.

J Pediatr Endocrinol Metab 2019 Mar;32(3):287-294

Faculty of Medicine, Department of Pediatrics and Adolescence Medicine, University of Freiburg, Freiburg, Germany.

Background During pubertal development in healthy boys, increased levels of different sex steroids occur which are responsible for sexual maturation and physical changes. However, relationships between various sex hormones and pubertal development stages have not been sufficiently studied. Methods The investigation included 165 normal boys (mean age 12. Read More

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http://dx.doi.org/10.1515/jpem-2018-0451DOI Listing
March 2019
1 Read

MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature.

J Pediatr Endocrinol Metab 2019 Apr;32(4):409-413

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

Background Obesity has become one of the greatest health risks worldwide. Recently, there was an explosion of information regarding the role of the central nervous system (CNS) in the development of monogenic and syndromic obesity. Case presentation Over the last decade, terminal and interstitial submicroscopic deletions of copy number variants (CNVs) in 2p25. Read More

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http://dx.doi.org/10.1515/jpem-2018-0505DOI Listing
April 2019
1 Read

The effect of therapy on plasma ghrelin and leptin levels, and appetite in children with iron deficiency anemia.

J Pediatr Endocrinol Metab 2019 Mar;32(3):275-280

Faculty of Medicine, Department of Biochemistry, Atatürk University, Erzurum, Turkey.

Background It is known that iron deficiency anemia effects appetite and growth negatively. The aim of this study was to investigate the effect of iron therapy on appetite, growth and plasma ghrelin and leptin levels in children aged between 12 and 24 months with isolated nutritional iron deficiency anemia. Methods Iron deficiency anemia was diagnosed by clinic and laboratory findings. Read More

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http://dx.doi.org/10.1515/jpem-2018-0352DOI Listing
March 2019
1 Read

Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing.

J Pediatr Endocrinol Metab 2019 Mar;32(3):295-300

Associate Senior Physician and Associate Professor of Department of Neurology and Development, The Seventh Medical Center of PLA General Hospital, Beijing, China.

Background The mutations of thiamine pyrophosphokinase-1 (TPK1) gene have been frequently studied in some patients with thiamine metabolism dysfunction syndrome-5 (THMD5), while TPK1 mutations in Chinese patients have been investigated by only homozygous. A search of the literature on the mutations in the Chinese population currently published revealed that no reports of compound heterozygous mutations were reported. Here, we report a Chinese patient with compound heterozygous TPK1 mutations who underwent magnetic resonance imaging (MRI), whole exome sequencing (WES), molecular diagnosis, bioinformatics analysis, and three-dimensional (3D) protein structure analysis. Read More

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http://dx.doi.org/10.1515/jpem-2018-0363DOI Listing

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

J Pediatr Endocrinol Metab 2019 Mar;32(3):215-224

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
March 2019
5 Reads

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
8 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
2 Reads

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 Mar;32(3):281-285

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

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

J Pediatr Endocrinol Metab 2019 Mar;32(3):301-304

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
March 2019
2 Reads
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 Mar;32(3):305-310

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
March 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
1 Read

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
4 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 Mar;32(3):233-237

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

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
4 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
8 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
10 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
6 Reads

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
2 Reads

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
4 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