Journal of Pediatric Endocrinology & Metabolism

Article	Citations
Early-onset growth hormone treatment in Prader–Willi syndrome attenuates transition to severe obesity	30
Rickets in proximal renal tubular acidosis: a case series of six distinct etiologies	26
An endocrine perspective on menstrual suppression for adolescents: achieving good suppression while optimizing bone health	25
Frontmatter	18
The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome	17
Evaluation of endocrinological involvement and metabolic status in patients with Gaucher disease Type 1 and Fabry disease under enzyme replacement therapy	16
Pattern of presentation of paediatric endocrine disorders in a Nigerian tertiary institution: an 11-year survey	16
Diabetic ketoacidosis masquerading behind alkalemia an undiagnosed or missed variant of diabetic ketoacidosis	15
Ectopic parathyroid hormone as a rare aetiology of hypercalcemia with rhabdomyosarcoma: a new treatment strategy with zoledronic acid and Denosumab	15
Hypoparathyroidism and medium-chain Acyl-CoA dehydrogenase deficiency, an unusual association	14
Selecting optimal progestational agents either alone or in combination in common pediatric endocrine settings: challenges of unmet needs	14
Evaluation of the systemic-immune inflammation index (SII) and systemic immune-inflammation response index (SIRI) in children with type 1 diabetes mellitus and its relationship with cumulative glycemi	14
Myoinositol or D-chiro-inositol for PCOS symptoms in adolescents: a narrative review	13
Optimal timing of repeat thyroid fine-needle aspiration biopsy	13
Questioning the adequacy of standardized vitamin D supplementation protocol in very low birth weight infants: a prospective cohort study	13
Urinary phthalate concentrations are associated with total fat mass in Thai children	13
Retrospective evaluation of patients diagnosed with central precocious puberty who reached the final height	12
Combined diagnostic value of insulin-like growth factor-1, insulin-like growth factor binding protein-3, and baseline luteinizing hormone levels for central precocious puberty in girls	12
Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease	11
Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy	11
Relationship between urinary sodium excretion and bone mineral density in pediatrics: population-based study from KNHANES V 2010–2011	10
Depression, anxiety, eating problems, and diabulimia risk in adolescents with type 1 diabetes: a case–control study	10
Acquired idiopathic isolated ACTH deficiency with associated autoimmune thyroiditis in pediatrics: case report and review of the literature	10
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population	10
Comparison of regular with NPH insulin vs. premix insulin in children and adolescents with type 1 diabetes in a resources-limited setting: a retrospective data analysis	10

Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene	9
Benefits of metformin add-on insulin therapy (MAIT) for HbA1c and lipid profile in adolescents with type 1 diabetes mellitus: preliminary report from a double-blinded, placebo-controlled, randomized c	9
Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance	9
Frontmatter	9
Evaluation of the resilience of the girls with central precocious puberty treated with gonadotropin-releasing hormone analog	9
Increased anxiety symptoms in pediatric type 1 diabetes during the acute phase of COVID-19 lockdown	8
Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K)	8
Clinical profile and aetiologies of delayed puberty: a 15 years’ experience from a tertiary centre in Sudan	8
Allergic reactions to enzyme replacement therapy in children with lysosomal storage diseases and their management	8
Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene	8
A new onset drug induced diabetes mellitus presenting with diabetic ketoacidosis in a child undergoing treatment for B cell acute lymphoblastic leukemia. A case report and review of literature	8
Management of perinatal HPP during critical illness/ECMO	8
Excessive weight gain among preschool children during the COVID-19 lockdown in China: a retrospective observational study	8
Does cystatin C have an immunomodulatory role in Hashimoto’s thyroiditis?	8
Early pregnancy exposure of maternal triglyceride levels and its effects on birth weight	8
Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up	8
Hsa_circ_0002473 inhibits GH3 cell proliferation and GH secretion as a competitive endogenous RNA for has-miR-4645-3p	8
Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities	8
Two families, two pathways: a case series of 46, XY DSD with 17α-hydroxylase deficiency and isolated 17,20-lyase deficiency due to novel CYB5A variant	8
The diagnostic utility of bioelectrical impedance analysis in distinguishing precocious puberty from premature thelarche	8
Activating calcium-sensing receptor gene variants in China: a case report of hypocalcaemia and literature review	7
STX16 exon 5–7 deletion in a patient with pseudohypoparathyroidism type 1B	7
The relationship between alexithymia, health literacy, and diet quality in obese adolescents	7
Children and adolescents with differentiated thyroid cancer from 1998 to 2018: a retrospective analysis	7
Role of the SARS-CoV-2 virus in the appearance of new onset type 1 diabetes mellitus in children in Gran Canaria, Spain	7
Nephrogenic diabetes insipidus: a comprehensive overview	7
Evaluation of children with type 1 diabetes mellitus in terms of overweight/obesity in tertiary care hospital	7
Nitisinone treatment during two pregnancies and breastfeeding in a woman with tyrosinemia type 1 – a case report	7
Predictors of decreased bone mineral density in childhood systemic lupus erythematosus: possible role of osteoprotegerin gene polymorphisms	7
Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita	6
Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants	6
Penile diameter during puberty in boys: a retrospective analysis of longitudinally obtained data	6
Letrozole combined with rhGH treatment increases the adult height of short pubertal boys	6
Timing of onset of menses after GnRH agonist treatment for central precocious puberty	6
Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report	6
Increased lipocalin 2 levels in adolescents with type 2 diabetes mellitus	6
Impacts of the COVID-19 pandemic on the diagnosis of idiopathic central precocious puberty in pediatric females in New York City	6
Pleomorphism of the HPG axis with NR0B1 gene mutation — a case report of longitudinal follow-up of a proband with central precocious puberty	6
Predictive factors for lung metastasis in pediatric differentiated thyroid cancer: a clinical prediction study	6
The N221D variant in PCSK1 is highly prevalent in childhood obesity and can influence the metabolic profile	6
Gonadal changes in children and adolescents with congenital adrenal hyperplasia	5
New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography	5
Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1	5
Cross-sectional analysis: clinical presentation of children with persistently low ALP levels	5
A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review	5
Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management	5
The status and childcare management of overweight and obesity among preschool children in Hangzhou	5
MicroRNA-29a and microRNA-122 expressions and other inflammatory markers among obese children with diabetes	5
Frontmatter	5
The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency	5

Evaluation of a nurse-led counselling intervention on selected outcome variables for parents of children with congenital adrenal hyperplasia	5
The association of grandparental co-residence and dietary knowledge with excess body weight among children aged 7–15 years in China	5
Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation	5
Dramatic response to Evinacumab in a North Indian girl with homozygous familial hypercholesterolemia	5
Peripheral arterial disease among children with type 1 diabetes mellitus in a Nigerian teaching hospital	5
Pediatric adrenal insufficiency: thirty years experience at a Portuguese hospital	5
3-M syndrome – a primordial short stature disorder with novel CUL7 mutation in two Indian patients	5
Congenital hypothyroidism in children with eutopic gland or thyroid hemiagenesis: prognostic factors for transient vs. permanent hypothyroidism	5
The mediating function of obesity on endocrine-disrupting chemicals and insulin resistance in children	5
An 11-year-old girl with Autoimmune Polyglandular Syndrome (APS) type 2: a case report and review of literature	5
Visceral adiposity is related to insulin sensitivity and inflammation in adolescents with obesity and mild sleep disordered breathing	5
Association between maternal and cord blood thyroid hormones, and urine iodine concentration with fetal growth	5
MAN1B1-CDG: novel patients and novel variant	4
Development and assessment of a low-health-literacy, pictographic adrenal insufficiency action plan	4
Performance of glucagon stimulation test in diagnosing central adrenal insufficiency in children when utilising the Roche Elecsys® cortisol II assay: a pilot study	4
New Editor-in-Chief of the Journal of Pediatric Endocrinology and Metabolism	4
Complications of orthopedic treatment in patients diagnosed with X-linked hypophosphatemic rickets	4
Evaluation of the etiological and clinical characteristics of pediatric central diabetes insipidus	4
Frontmatter	4
Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome – neuro-endocrine tumours (ROHHAD-NET): case series and learning points	4
Chronotype, sleep, and glycemic control in children and adolescents with type 1 diabetes: a case-control study	4
DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report	4
Short- to medium-term follow-up of normoponderal children and adolescents with subclinical hypothyroidism: a retrospective study of the last 15 years	4
Efficacy and safety of leuprorelin 3-month depot (11.25 mg) for idiopathic central precocious puberty treatment of Chinese girls: a single-center retrospective study	4
Premature ovarian insufficiency in pediatric cancer patients: a 10 year Rady Children’s Hospital experience	4
Physical activity and vitamin D in children: a review of impacts on bone health and fitness	4
Frontmatter	4
Frontmatter	4
Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing	4
The effect of the COVID-19 pandemic on metabolic control in children with type 1 diabetes: a single-center experience	4
Incidence and associated risk factors of congenital hypothyroidism among newborns in Hainan, China: a retrospective study	4
Long-term effectiveness and safety of long-acting growth hormone preparation in children with growth hormone deficiency	4
Very severe hypertriglyceridemia complicating pediatric acute lymphoblastic leukemia treatment: a call for management guidelines	4
Applicability of the External Genitalia Score (EGS) in Indian neonates and children up to 2 years of age	4
Pubertal disorders in juvenile idiopathic arthritis: a systemic review	4
Thyroid – what is a healthy thyroid function test?	4
The prevalence of hypertension and elevated blood pressure and its correlation with overweight/obesity among students aged 6–17 years in Suzhou	4
Coexistence of SRY, DHX37 and POR gene variants in a patient with 46,XY disorder of sex development	4
Effects of the COVID-19 pandemic on the incidence of central precocious puberty; a narrative review	3
Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency	3
Accelerated pubertal onset in short children with delayed bone age	3
Association of muscle mass and fat mass on low-density-lipoprotein cholesterol and triglyceride plasma concentration in children and adolescents	3
Clinical manifestations and molecular genetics of seven patients with Niemann–Pick type-C: a case series with a novel variant	3
Efficacy of aromatase inhibitor therapy in a case with large cell calcifying Sertoli cell tumour-associated prepubertal gynaecomastia	3
Screening for hypophosphatasia: does biochemistry lead the way?	3
Evaluation of serum telomerase activity in normal-weight young girls with polycystic ovary syndrome and its relation to metabolic parameters	3
Extremely and very preterm children who were born appropriate for gestational age show no differences in cortisol concentrations or diurnal rhythms compared to full-term children	3
Through the eyes of the parents: a transdiagnostic psychiatric perspective for children with differences of sexual development	3
Association of hepatokines with markers of endothelial dysfunction and vascular reactivity in obese adolescents	3
Thyroid abscess associated with transient hyperthyroidism in an adolescent girl: a rare case report and review of the literature	3
The usefulness of copeptin for the diagnosis of nephrogenic diabetes insipidus in infancy: a case report	3
Assessing the efficacy of a hybrid closed loop system in a racial-ethnic minority cohort of children and adolescents with type 1 diabetes	3
Rare case of ACTH-independent Cushing syndrome: diagnostic challenges and management	3
Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country	3
Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation	3
Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities	3
Graves’ disease after COVID mRNA vaccination for the first time diagnosed in adolescence-case report. Cause and effect relationship or simple coincidence?	3
Adiposity rebound in very-low-birth-weight infants	3
A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta	3
A case report of a young boy with low renin and high aldosterone levels induced by Liddle syndrome who was previously misdiagnosed with primary aldosteronism	3
Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia	3
Adjustment of octreotide dose given via insulin pump based on continuous glucose monitoring (CGM) in a child with congenital hyperinsulinism	3
Bioinformatics analysis explores key pathways and hub genes in central precocious puberty	3
Pseudohypoaldosteronism associated with hypertrophic cardiomyopathy, hypertension and thrombocytosis due to mutation in the ELAC2 gene: a case report	3
The relationship between metabolic syndrome criteria and pentraxin-3 levels in children	3
An infant developing hypercalcemia and hypophosphatemia due to the use of exclusively almond milk	3
Lack of association between month of birth and risk of developing type 1 diabetes in Brazil: a 40-year analysis	3
Weight changes of children in 1 year during COVID-19 pandemic	3
Disorders of sex development – biologic, genetic, cultural, societal, and psychologic diversity of the human nature	3
A novel useful marker in the early discrimination of transient hyperthyrotropinemia/hypothyroxinemia and congenital hypothyroidism in preterm infants: thyroid-stimulating hormone/free thyroxine ratio	3
Safety and user experience with off-label use of a flash glucose monitor (FreeStyle Libre® 1) among very young children with type 1 diabetes mellitus	3
Perceptions and use of complementary and alternative medicine in patients with precocious puberty	3
The presentation of congenital adrenal hyperplasia in an unscreened population	3
The relationship between estrogen and subsequent growth restriction among adolescents with heavy menstrual bleeding at menarche	3
Prevalence of nonalcoholic fatty liver disease increased with type 2 diabetes mellitus in overweight/obese youth with polycystic ovary syndrome	3
A 10-year retrospective single-center study of alpha-fetoprotein and beta-human chorionic gonadotropin in Romanian children with (para)gonadal tumors and cysts	3
Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report	3
Pediatric adrenocortical tumors cohort characteristics and long-term follow-up at a single Argentinian tertiary center	3
ALG11-CDG: novel variant and review of the literature	3
Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother	3

Psychological and behavioral assessments in girls with idiopathic central precocious puberty	3
Investigation of the relationship between serum sclerostin and dickkopf-1 protein levels with bone turnover in children and adolescents with type-1 diabetes mellitus	3
Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis	2
Urinary iodine and thyroglobulin are useful markers in infants suspected of congenital hypothyroidism based on newborn screening	2
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form	2
The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype	2
Thiamine status during treatment of diabetic ketoacidosis in children – tertiary care centre experience	2
The use of CGM to identify hypoglycemia and glycemic patterns in congenital hyperinsulinism	2
Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement	2
A systematic review and meta-analysis of the self-reported pubertal development scale’s applicability to children	2
Children and adolescents with type 1 diabetes mellitus in Nigeria: clinical characteristics and compliance with care	2
Hormonal therapy for impaired growth due to pediatric-onset inflammatory bowel disease: a systematic review and meta-analysis with trial sequential analysis	2
Severe hypophosphataemia can be an early sign of osteopetrorickets: a case report	2
Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of ARG1 (p.Lys41Thrfs∗2)	2
Do body esteem and quality of life scores change with puberty signs or precocious puberty treatment?	2
Diabetic ketoacidosis in youth with diabetes mellitus during the COVID-19 pandemic	2
Urinary biomarkers NG AL and beta-2 microglobulin in children with type 1 diabetes mellitus	2
Adiponectin–leptin ratio as a marker of cardio-metabolic risk in Indian children and youth with type 1 diabetes	2
Evaluation of the growth and nutritional status of preschool children: a pilot study in the cold area of China	2
A novel variant of the STAR gene: nonclassical presentation from Turkey	2
An open-label extension of a phase 2 dose-finding study of once-weekly somatrogon vs. once-daily Genotropin in children with short stature due to growth hormone deficiency: results following 5 years o	2
Evaluating a standardized protocol for the management of diabetes insipidus in pediatric neurosurgical patients	2
Clinical and genetic insights into congenital lipoid adrenal hyperplasia: a case series from a tertiary care center in North India	2
Frontmatter	2
The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group	2
Prevalence of nephropathy in Indian children and youth with type 1 diabetes mellitus	2
Moderating effect of bone maturation on the relationship between body fat and insulin resistance	2
Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors	2
Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation	2
Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye	2
From neglect to peril: diabetic ketoacidosis unleashing colonic necrosis and perforation in an adolescent girl with type 1 diabetes mellitus	2
Effect of COVID-19 pandemic on presentation and referral patterns of newly diagnosed children with type 1 diabetes in a developing country	2
No pubertal growth spurt, rapid bone maturation, and menarche post GnRHa treatment in girls with precocious puberty	2
Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children	2
Blood pressure in girls with central precocious puberty receiving GnRH analogue therapy	2
Assessment of diabetes-specific knowledge and its determinants among children with type 1 diabetes mellitus and their primary caregivers: Experience from a tertiary care center in North India	2
Oral glucose tolerance test curve shape in Mexican children and adolescents with and without obesity	2
A very rare cause of hypertrygliseridemia in infancy: a novel mutation in glycerol-3-phosphate dehydrogenase 1 (GPD1) gene	2
Mild phenotype in two siblings with a missense GHR variant	2
Development of a disease diagnostic model to predict the occurrence of central precocious puberty of female	2
Is oxytocin related to psychiatric symptoms in adolescents with obesity?	2
Comment on “Diagnostic utility of the average peak LH levels measured during GnRH stimulation test”	2
Recurrence and survival for patients with thyroid carcinoma in the pediatric age group in the Emirate of Abu Dhabi: retrospective analysis of a multicentre cohort	2
High serum neurotensin level in obese adolescents is not associated with metabolic parameters, hyperphagia or food preference	2
Predictive value of WHO vs. IAP BMI charts for identification of metabolic risk in Indian children and adolescents	2
Evaluation of cardiac electrophysiological features in patients with premature adrenarche	2
Pediatric Graves’ disease in Argentina: analyzing treatment strategies and outcomes	2
Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus	2
Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review	2
NPR2 gene variants in familial short stature: a single-center study	2
Association between partial remission phase in type 1 diabetes and vitamin D receptor Fok1 rs2228570 polymorphism	2
A case of severe systemic type 1 pseudohypoaldosteronism with 10 years of evolution	2
Genomic landscape of sporadic pediatric differentiated thyroid cancers: a systematic review and meta-analysis	2
Effects of vitamin D supplementation on glycemic control of children and adolescents with type 1 diabetes mellitus: a systematic review	2
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG	2
The transfer of care experience in young adults with type 1 diabetes	2
Predictive value of 6 h postoperative parathyroid hormone level on permanent hypoparathyroidism in pediatric total thyroidectomy: a pilot study	2
Psychiatric behavioral effect and characteristics of type 2 diabetes mellitus on Japanese patients with Prader-Willi syndrome: a preliminary retrospective study	2
A case of monogenic diabetes mellitus caused by a novel heterozygous RFX6 nonsense mutation in a 14-year-old girl	2
The effect of gonadotropin-releasing hormone analog treatment on the endocrine system in central precocious puberty patients: a meta-analysis	2
Artificial Intelligence (AI) in pediatric endocrinology	2
Differences in the proportion of Croatian adolescents with abnormal individual metabolic syndrome components adjusted to gender and different criterion for individual metabolic syndrome component	2
Clinical profile and management challenges of disorders of sex development in Africa: a systematic review	2
Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy	2
Examination of quality of life and psychiatric symptoms in childhood Graves’ disease	2
Reply to: The relationship between estrogen and subsequent growth restriction among adolescents with heavy menstrual bleeding at menarche	2
A 7-year-old boy with central diabetes insipidus presenting with thickened pituitary stalk and anti-rabphilin-3A antibody positivity	2
Predictive factors of catch-up growth in term, small for gestational age infants: a two-year prospective observational study in Algeria	2
Frontmatter	2
Anti-SARS-CoV-2 antibodies in new-onset type 1 diabetes in children during pandemic in Belgium	2
An unusual presentation of primary adrenal insufficiency with new onset type 1 diabetes: case report and review of the literature	2
A preliminary study on the relationship between environmental endocrine disruptors and precocious puberty in girls	2
BETAMETHASONE cream to treat diapers rash causing Cushing syndrome	2
Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management	2
Comparing adolescent self staging of pubertal development with hormone biomarkers	2
A recent update on childhood obesity: aetiology, treatment and complications	2
Advantages of monitoring rT3 and dividing LT3 dose in the treatment of consumptive hypothyroidism associated with infantile hepatic hemangioma	2
Correspondence on “Obesity after the Covid-19 pandemic”	2
Copeptin levels in hospitalized infants and children with suspected vasopressin-dependent disorders: a case series	2
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns	2