Full Text Journal Articles in
Journal J Pediatr Endocrinol Metab

Advertisement

Find full text journal articles






Challenges of following patients with inherited metabolic diseases during the COVID-19 outbreak. A cross-sectional online survey study.

Ece Oge Enver, Duhan Hopurcuoglu, Seffa Ahmadzada, Tanyel Zubarioglu, Ayşe Cigdem Aktuglu Zeybek, Ertugrul Kiykim,

Background There has been a recent worldwide outbreak of coronavirus disease (COVID-19). Most of the health system capacity has been directed to COVID-19 patients, and routine outpatient clinics have been suspended. Chronic disease patients, such as inherited metabolic disorders (IMD), have had trouble accessing healthcare services. Methods An online cross-sectional ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Papillary thyroid carcinoma in children with Hashimoto's thyroiditis - a review of the literature between 2000 and 2020.

Maria Lucia Sur, Remus Gaga, Călin Lazăr, Cecilia Lazea, Cornel Aldea, Daniel Sur,

Objectives Thyroid cancer is the most common pediatric endocrine neoplasm representing 3% of all malignancies in children. Hashimoto's thyroiditis (HT) is also a common disorder in the pediatric age range. Patients with HT frequently develop enlarged thyroid with nodules. We aimed to provide a literature review on the frequency of ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Advertisement

Longitudinal 15-year follow-up of women with former early puberty: abnormal metabolic profiles not associated with earlier age at onset of puberty, but associated with obesity.

Somchit Jaruratanasirikul, Pitchaya Satitpatanapan, Hutcha Sriplung,

Background In 2011, we described 104 girls who were diagnosed as early puberty (EP) during 2003-2005. In 2019-2020, the former EP women had been followed up 14 years after attaining their final height. Objective To determine the reproductive function and metabolic profiles of former EP women. Study design Fifty-seven former ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.

Pavlos Fanis, Vassos Neocleous, Konstantina Kosta, Aristea Karipiadou, Michaela F Hartmann, Stefan A Wudy, Nikolaos Karantaglis, Dimitrios T Papadimitriou, Nicos Skordis, Georgios Tsikopoulos, Leonidas A Phylactou, Emmanouil Roilides, Maria Papagianni,

Objectives 3β-Hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare type of congenital adrenal hyperplasia caused by recessive loss-of-function mutations in HSD3B2 gene. Case presentation We report an 8.5-year-old, 46XY, Roma boy with advanced adrenarche signs born to consanguineous parents. He was born at term with ambiguous genitalia. At 15 days of age, ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Ectopic ACTH production by thymic and appendiceal neuroendocrine tumors - two case reports.

Elżbieta Moszczyńska, Katarzyna Pasternak-Pietrzak, Monika Prokop-Piotrkowska, Anna Śliwińska, Sylwia Szymańska, Mieczysław Szalecki,

Background Ectopic adrenocorticotropic syndrome (EAS) causes approximately 10-18% of cases of Cushing's syndrome (CS) in adults, while in children it occurs much less frequently. What is new? We present a long-term follow-up (8 and 13 years) of the only two cases of rare neuroendocrine tumors in 30 years of a ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Impact of growth hormone treatment on scoliosis development and progression: analysis of 1128 patients with idiopathic short stature.

Se-Jun Park, Keun-Ho Lee, Chong-Suh Lee, Ki-Tack Kim, Jun Hyuk Jang, Dae Hun Shin, Min Sun Kim, Jiyeon Kim, Sung Yoon Cho, Dong-Kyu Jin,

Objectives The purpose of this study was to evaluate the impact of recombinant human growth hormone (rhGH) on the development and progression of scoliosis in patients with idiopathic short stature (ISS). Methods Patients with ISS who underwent rhGH treatment from 1997 to 2017 and were followed up for scoliosis screening ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



The utility of 68Ga-DOTATATE PET/CT in localizing primary/metastatic pheochromocytoma and paraganglioma in children and adolescents - a single-center experience.

Sanjeet Kumar Jaiswal, Vijaya Sarathi, Gaurav Malhotra, Priya Hira, Ravikumar Shah, Virendra A Patil, Abhay Dalvi, Gagan Prakash, Anurag R Lila, Nalini S Shah, Tushar Bandgar,

Objectives Pediatric pheochromocytoma and paraganglioma (PPGL) are rare tumors with limited data on the diagnostic performance of 68Ga-DOTA(0)-Tyr(3)-octreotate positron emission tomography-computed tomography (68Ga-DOTATATE PET/CT). We have described our experience of 68Ga-DOTATATE PET/CT in overall and von Hippel Lindau (VHL)-associated pediatric PPGL and compared its sensitivity with that of 131I-meta-iodobenzyl-guanidine (131I-MIBG), ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation.

Doris Taha, Amita Adhikari, Leigh Anne Flore,

Objectives Activating germline mutations of the thyroid-stimulating hormone receptor (TSHR) are responsible for a rare form of neonatal nonautoimmune hyperthyroidism (NAH). We report the first case of familial neonatal neonatal nonautoimmune associated with c.1856A>G (p.Asp619Gly) variant in the TSHR gene. Case presentation We describe an eight-year-old African-American female presenting with ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Effectiveness of basal LH in monitoring central precocious puberty treatment in girls.

Valeria Calcaterra, Gianpaolo De Filippo, Riccardo Albertini, Domenico Rendina, Beatrice Messini, Claudio Maria Monti, Elena Bozzola, Alberto Villani, Mauro Bozzola,

Objectives Treatment of central precocious puberty (CPP) is based on administration of GnRH agonists in order to suppress hypothalamic-pituitary-gonadal axis and thus induce the stabilization or regression of pubertal development. Our aim was to determine whether the single basal serum LH and/or FSH concentration could be an effective tool to ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family.

Eleni Z Giannopoulou, Olga Ovcarov, Elisa De Franco, Fabian Kassberger, Susanne Nusser, Marie Celine Otto, Christian Denzer, Martin Wabitsch,

Objectives Neonatal diabetes mellitus (NDM) is a rare monogenic diabetes form, occurring mainly from ATP-binding cassette subfamily C member 8 (ABCC8) and KCNJ11 mutations. ABCC8 mutations have also been found to cause adult-onset diabetes. What is new?: •Novel ABCC8 mutation in an NDM case •Heterogeneous clinical presentation of diabetes and ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Delayed phenylketonuria diagnosis: a challenging case in child psychiatry.

Aspasia E Serdari, Christina Zompola, Athanasios Evangeliou,

Objectives Phenylalanine hydroxylase deficiency is an autosomal recessive inborn error of phenylalanine metabolism. What is new? Εven in cases with negative newborn screening for inborn errors of metabolism, the possibility of a metabolic disorder including PKU should be considered in any child presenting symptoms of developmental disorders. Late diagnosed PKU patients ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey.

Mujgan Ercan, Emiş Deniz Akbulut, Ozlem Oz, Nurgul Ataş, Meryem Karaca, Fatma Meriç Yılmaz,

Background Biotinidase Deficiency (BD) is an autosomal recessive metabolic disorder. However, the relationship between genotype and biochemical phenotype has not been completely elucidated yet. But still, some mutations are accepted to be associated with profound or partial deficiency. We aimed to evaluate the results of biochemical enzyme activity in accordance ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Impact of lockdown for COVID-19 pandemic in Indian children and youth with type 1 diabetes from different socio-economic classes.

Nikhil Shah, Madhura Karguppikar, Shital Bhor, Dipali Ladkat, Vaman Khadilkar, Anuradha Khadilkar,

Objectives In March 2020, lockdown was imposed in India to combat spread of Coronavirus, which was extended till 31st May. Implementation of lockdown and limited outdoor activities resulted in changes in routines of children with diabetes. The aim of this study was to assess the impact of lockdown on glycemic ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



The current review of adolescent obesity: the role of genetic factors.

Birsen Yılmaz, Makbule Gezmen Karadağ,

Obesity, a complex, multi-factor and heterogeneous condition, is thought to result from the interaction of environmental and genetic factors. Considering the result of adolescence obesity in adulthood, the role of genetic factors comes to the fore. Recently, many genome-wide association studies (GWAS) have been conducted and many loci associated with ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Adverse effects of metabolic disorders in childhood on adult reproductive function and fertility in the male.

Isabel Viola Wagner, Elizabeth Oliver, Jörg Dötsch, Olle Söder,

Over the last 50 years, there has been a steady decline in fertility rates in humans, which has occurred in parallel with an increasing incidence of obesity and metabolic disorders. The potential impact of these disorders and plausible mechanisms by which they negatively influence male reproduction are only partly understood ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Serum level of NPTX1 is independent of serum MKRN3 in central precocious puberty.

Hwal Rim Jeong, Jong Seo Yoon, Hye Jin Lee, Yeong Suk Shim, Min Jae Kang, Il Tae Hwang,

Background Makorin ring finger protein 3 (MKRN3) is associated with the initiation of puberty, and loss of function mutation of MKRN3 is the most common genetic cause of central precocious puberty (CPP). A recent study reported that MKRN3 interacts with and suppresses neural pentraxin-1 precursor (NPTX1) activity via polyubiquitination during ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Daily intake of macronutrients and energy in childhood and its association with cardiometabolic risk factors in Colombians.

Lyda Z Rojas, Edna M Gamboa-Delgado, Doris C Quintero-Lesmes,

Objectives Determine the intake and percentage of adequacy of macronutrients and their association with cardiovascular risk factors in a sample of Colombian schoolchildren. Methods Cross-sectional study nested in a prospective population-based cohort in schoolchildren between 6 and 10 years of age; cardiovascular risk markers and anthropometric measures were measured. Macronutrient intake ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Training using a simulation-based workshop reduces inaccuracies in estimations of testicular volume.

Jessica N Craig, Megan R Sharman, Ciara G Fitzgerald, Dominic Wigg, Beth S Williams, Ellen E Wilkinson, Neil P Wright, Joe Langley, Charlotte J Elder,

Objectives Measuring testicular volume (TV) by orchidometer is routine in the clinic when staging male puberty. We have developed a simulation model for TV estimation and investigated whether training medical students, using a workshop with simulation models, could improve the accuracy and reliability of TV estimation. Methods All participating medical ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis.

Tamara Žigman, Katarina Šikić, Danijela Petković Ramadža, Johannes Mayr, Saskia Wortmann, Holger Prokisch, Dorotea Ninković, Daniel Dilber, Dalibor Šarić, Filip Rubić, Slobodan Galić, Jasna Slaviček, Dražen Belina, Ksenija Fumić, Ivo Barić,

Objectives Hyperammonemia in a newborn is a serious condition, which requires prompt intervention as it can lead to severe neurological impairment and death if left untreated. The most common causes of hyperammonemia in a newborn are acute liver failure and inherited metabolic disorders. Several mitochondrial disorders have been described as ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



New onset diabetes with diabetic ketoacidosis in a child with multisystem inflammatory syndrome due to COVID-19.

Monica N Naguib, Jennifer K Raymond, Alaina P Vidmar,

Introduction Multisystem inflammatory syndrome in children (MIS-C) is a unique clinical complication of SARS-CoV-2 infection observed in pediatric patients. COVID-19 is emerging as a potential trigger for the development of diabetes in children. Here, we report a patient presenting with MIS-C and new onset diabetes, and discuss the implication and ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Differentiating syndrome of inappropriate ADH, reset osmostat, cerebral/renal salt wasting using fractional urate excretion.

Farahnak Assadi, Mojgan Mazaheri,

Objectives Clinical and laboratory data of reset osmostat (RO) and cerebral/renal salt wasting (C/RSW) mimic syndrome of inappropriate antidiuretic hormone (SIADH) and can pose diagnostic challenges because of significant overlapping between clinical and laboratory findings. Failure to correctly diagnose hyponatremia may result in increased mortality risk, longer hospital stay, and is ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Diabetes distress in Indian children with type 1 diabetes mellitus and their mothers.

Nirali N Lohiya, Neha A Kajale, Nikhil N Lohiya, Vaman V Khadilkar, Ketan Gondhalekar, Anuradha Khadilkar,

Background Children and their mothers, who are usually the primary caregivers, are likely to be distressed due to type 1 diabetes (T1DM). Objectives (1) To assess diabetes-specific distress (DD) perceived by children and adolescents with T1DM and their mothers and association of distress between children and mothers. (2) To study ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience.

Tanyel Zubarioglu, Elif Dede, Humeyra Cigdem, Ertugrul Kiykim, Mehmet S Cansever, Cigdem Aktuglu-Zeybek,

Objectives Accurate management of metabolic decompensation in maple syrup urine disease (MSUD) has a crucial role, as acute attacks can cause neurological sequels and can be life threatening. Here, we aimed to evaluate effect of sodium phenylbutyrate (NaPBA) in acute management of MSUD attacks. Methods Episodes with an initial plasma ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Growth in achondroplasia, from birth to adulthood, analysed by the JPA-2 model.

Mariana Del Pino, Virginia Fano, Paula Adamo,

Objectives In general population, there are three phases in the human growth curve: infancy, childhood and puberty, with different main factors involved in their regulation and mathematical models to fit them. Achondroplasia children experience a fast decreasing growth during infancy and an "adolescent growth spurt"; however, there are no longitudinal ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Evolution of Hashimoto thyroiditis in children with type 1 diabetes mellitus (TIDM).

Feneli Karachaliou, Nikitas Skarakis, Evangelia Bountouvi, Theodora Spyropoulou, Eleni Tsintzou, Aristofania Simatou, Vassiliki Papaevangelou,

Objectives Treatment of children with Hashimoto thyroiditis (HT) and particularly of those with coexistent diabetes mellitus type 1 (TIDM) and normal/mildly elevated serum TSH is controversial. The aim of the study was to evaluate the natural course of HT in children with TIDM compared with children with no other coexistent ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Advertisement

Disclaimer
1.1744 s