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Medulloblastoma in a child with osteoma cutis – a rare association due to loss of GNAS expression J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-03-26 Jananie Suntharesan, Ekaterina Lyulcheva-Bennett, Rachel Hart, Barry Pizer, James Hayden, Renuka Ramakrishnan
Objectives Inactivating GNAS mutations result in varied phenotypes depending on parental origin. Maternally inherited mutations typically lead to hormone resistance and Albright's hereditary osteodystrophy (AHO), characterised by short stature, round facies, brachydactyly and subcutaneous ossifications. Paternal inheritance presents with features of AHO or ectopic ossification without hormone resistance
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Surgical treatment of secondary hyperparathyroidism in children with chronic kidney disease. Experience in 19 patients J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-03-22 Silvia Mercedes Gil, Mariana Aziz, Valeria De Dona, Laura Lopez, Maria Florencia Soto, Victor Ayarzabal, Marta Adragna, Alicia Belgorosky, Marta Ciaccio, Gisela Viterbo
Objectives Secondary hyperparathyroidism (sHPT) is an important contributor to bone disease and cardiovascular calcifications in children with chronic kidney disease (CKD). When conservative measures are ineffective, parathyroidectomy is indicated. The aim of our study was to evaluate the efficacy and safety of subtotal parathyroidectomy (sPTX) in pediatric and adolescent patients, and to provide a
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Early change of retinal nerve fiber layer in children with type 1 diabetes mellitus in northern China J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-03-15 Dejing Wu, Rongxiu Zheng, Xuan Kan, Liping Hao, Ying Wei, Jie Cao
Objectives This study aimed to identify discrepancies in the retinal nerve fiber layer (RNFL) between type 1 diabetes mellitus (T1DM) children without retinopathy and healthy subjects in northern China. Methods This was a cross-sectional hospital-based study carried out from Jan 2019 until Jul 2021 at the department of pediatrics in Tianjin medical university general hospital. Children with T1DM but
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Investigating the connection among thyroid function, sensitivity to thyroid hormones, and metabolic syndrome in euthyroid children and adolescents affected by type 1 diabetes J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-03-11 Valeria Calcaterra, Chiara Mameli, Maddalena Macedoni, Annalisa De Silvestri, Laura Sgambetterra, Federico Nosenzo, Francesca Chiara Redaelli, Agnese Petitti, Alessandra Bosetti, Gianvincenzo Zuccotti
Objectives A connection between thyroid hormones (THs) and diverse metabolic pathways has been reported. We evaluated thyroid function and tissue sensitivity to THs in children and adolescents with T1D in comparison to euthyroid controls. Additionally, we investigate whether a relationship exists between sensitivity indices and metabolic parameters. Methods A retrospective analysis was conducted on
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Ectopic lingual thyroid with subclinical hypothyroidism in children J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-03-11 Se Jin An, Min Hyung Cho, Young Suk Shim, Hae Sang Lee, Jin Soon Hwang
Objectives Lingual thyroid is a rare condition that affects approximately 1 in 100,000 individuals. Although it is usually detected in the pediatric population through newborn screening tests or evaluation of congenital hypothyroidism, there are cases in which it remains undetected until adulthood or until symptoms arise because of glandular enlargement. The possible symptoms of lingual thyroid include
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Evaluation of copeptin in children after stimulation with clonidine or L-Dopa J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-03-11 Aristeidis Giannakopoulos, Dimitra Kritikou, Dionisios Chrysis
Objectives Arginine-stimulated serum copeptin has been proposed as a new method to diagnose arginine vasopressin (AVP) deficiency in children and adolescents. Herein we investigated the secretagogic potential of clonidine or L-Dopa on the copeptin serum levels in children. Methods Eight stimulation tests (4 with clonidine and 4 with L-Dopa) were performed in eight children (5 boys and 3 girls) with
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Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-03-11 Nimisha S. Dange, Nikhil Shah, Chirantap Oza, Jyoti Sharma, Jyoti Singhal, Sushil Yewale, Shruti Mondkar, Shriniwas Ambike, Vaman Khadilkar, Anuradha V. Khadilkar
Objectives Wolfram syndrome is characterised by insulin-dependent diabetes (IDDM), diabetes insipidus (DI), optic atrophy, sensorineural deafness and neurocognitive disorders. The DIDMOAD acronym has been recently modified to DIDMOAUD suggesting the rising awareness of the prevalence of urinary tract dysfunction (UD). End stage renal disease is the commonest cause of mortality in Wolfram syndrome.
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Ovarian reserve and fertility parameters in post-pubertal females with congenital adrenal hyperplasia: a case-control study J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-03-09 Marwa Nawar, Marwa Sayed Mohammad, Asmaa Shabaan, Heba Elsedfy
Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by impaired activity of the enzyme required for cortisol and aldosterone production, resulting in increased adrenal androgen synthesis. Factors affecting fertility in CAH patients include ambiguous genitalia and their complications, excessive androgen secretion, adrenal progesterone hypersecretion, and
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Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-03-06 Raiz Ahmad Misgar, Ankit Chhabra, Ajaz Qadir, Sidharth Arora, Arshad Iqbal Wani, Mir Iftikhar Bashir, Shariq Rashid Masoodi
Objectives The genetic causes of pituitary stalk interruption syndrome (PSIS) remain elusive in 95 % of cases. The roundabout receptor-1 gene (ROBO1) plays critical roles in axonal guidance and cell migration. Recently, mutations in the ROBO1 gene have been reported patients with PSIS. Case presentation We report a 2.9-year-old boy with PSIS who presented with combined pituitary hormone deficiency
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New data supporting that early diagnosis and treatment are possible and necessary in intracellular cobalamin depletion: the case of transcobalamin II deficiency J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-03-04 Bindi Verónica, Carolina Crespo, Noelia Lochner, Estefanía Rossetti, Cecilia Tagliavini, Carolina Bouso, Hernan Eiroa
Objectives Transcobalamin II (TC) promotes the cellular uptake of cobalamin (Cbl) through receptor-mediated endocytosis of the TC-cbl complex in peripheral tissues. TC deficiency is a rare disorder that causes intracellular Cbl depletion. It presents in early infancy with a failure to thrive, diarrhea, anemia, agammaglobulinemia, and pancytopenia. Data from five TC-deficient patients including clinical
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Growth hormone treatment in children with short stature: impact of the diagnosis on parents J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-29 Stefanie Witt, Janika Bloemeke, Monika Bullinger, Helmuth-Günther Dörr, Neuza Silva, Julia Hannah Quitmann
Objectives This prospective multicenter study aimed (1) to examine changes in parent-reported health-related quality of life (HRQOL) of children with short stature and the effects of the children’s condition on parents themselves within the first year of human growth hormone (hGH) treatment and (2) to predict effects on parents based on main and interaction effects of children’s HRQOL and increase
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An infant developing hypercalcemia and hypophosphatemia due to the use of exclusively almond milk J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-28 Mostafa Salama, Peter J. Tebben, Alaa Al Nofal
Objective Plant-based milk alternatives are increasingly utilized in children with cow milk allergy, lactose intolerance, and personal preference. However, notable differences exist in mineral content between cow milk and plant-based alternatives. Almond milk, in particular, varies in mineral and caloric content across different brands. This case report highlights a toddler who developed hypercalcemia
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Decline in case rates of youth onset type 2 diabetes in year three of the COVID-19 pandemic J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-27 Ahlee Kim, David Geller, Hyojin Min, Brian Miyazaki, Jennifer Raymond, Alaina P. Vidmar, Rachel Zipursky, Lily C. Chao
Objectives To determine changes in case rates of youth onset type 2 diabetes in the three years following the COVID-19 pandemic. Methods A single-center, retrospective medical record review was conducted for patients newly diagnosed with T2D between 3/1/18 and 2/28/23 at a pediatric tertiary care center. The number of patients referred to CHLA with a T2D diagnosis date between 3/1/2020 and 2/28/2023
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Association of hepatokines with markers of endothelial dysfunction and vascular reactivity in obese adolescents J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-26 David Stein, Daniela Ovadia, Stuart Katz, Preneet Cheema Brar
Objectives Obesity-induced insulin resistance (IR) is known to influence hepatic cytokines (hepatokines), including fibroblast growth factor (FGF-21), fetuin-A, and chemerin. This study aimed to investigate the association between hepatokines and markers of endothelial dysfunction and vascular reactivity in obese adolescents. Methods A total of 45 obese adolescents were categorized into three groups
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Evaluation of cardiac electrophysiological features in patients with premature adrenarche J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-22 Kerem Ertaş, Özlem Gül, Ruken Yıldırım, Şervan Özalkak
Objectives This study aimed to analyze the cardiac effects of hyperandrogenism in premature adrenarche (PA) and evaluate the risk of arrhythmia development. Methods Fifty patients with PA and 50 healthy children from a pediatric endocrinology outpatient clinic were included in the study. The patients underwent echocardiography and electrocardiographic evaluations. Conventional echocardiography, tissue
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A pilot study proposing an algorithm for pubertal induction in cerebral palsy J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-20 Anne Trinh, Angelina Lim, Phillip Wong, Justin Brown, Janne Pitkin, Beverley Wollenhoven, Peter Ebeling, Peter Fuller, Frances Milat, Margaret Zacharin
Objectives To explore delayed puberty in cerebral palsy (CP) and to test the acceptability of an interventional puberty induction algorithm. Methods A two phase cohort study in children and adolescents diagnosed with CP who have delayed puberty. Phase 1: Retrospective review of clinical records and interviews with patients who have been treated with sex-steroids and Phase 2: Prospective interventional
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Thyroid volume in Turkish school-age children living in an iodine-sufficient region J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-17 Reyhan Deveci Sevim, Mustafa Gök, Sercan Öztürk, Özge Çevik, Ömer Erdoğan, Sebla Güneş, Tolga Ünüvar, Ahmet Anık
Objectives We aimed to obtain local normative data on thyroid volume evaluated by ultrasonography and iodine status by measuring urine iodine levels in school-age children living in Aydın province. Methods In this cross-sectional study, a sample comprising 1,553 cases was meticulously selected from a total cohort of 170,461 children aged 6–17, drawn from 21 distinct educational institutions located
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Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-14 Mónica Expósito Raspeño, Verónica Sánchez Escudero, Guiomar Pérez de Nanclares Leal, María Ortiz Santamaría, Rosa Sánchez-Dehesa Sáez, Beatriz García Cuartero, Amparo González Vergaz
Objectives Pseudohypoparathyroidism type 1A (PHP1A) encompasses the association of resistance to multiple hormones, features of Albright hereditary osteodystrophy and decreased Gsα activity. Little is known about the early signs of PHP1A, with a delay in diagnosis. We report two PHP1A cases and their clinical and biochemical findings during a 20-year follow-up. Case presentation Clinical suspicion
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Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-14 Gülreyhan Sonuç Kartal, Merve Koç Yekedüz, Engin Köse, Fatma Tuba Eminoğlu
Objectives Primary Coenzyme Q10 Deficiency-7 (OMIM 616276) results from bi-allelic pathogenic variants in the COQ4 gene. Common clinical findings include hypotonia, seizures, respiratory distress, and cardiomyopathy. In this report, we present two patients diagnosed with Primary Coenzyme Q10 Deficiency-7 along with a review of previously published cases, with the aim being to provide a better understanding
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Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-14 Ayşenur Engin Erdal, Burak Yürek, Oya Kıreker Köylü, Ahmet Cevdet Ceylan, Ayşegül Neşe Çıtak Kurt, Çiğdem Seher Kasapkara
Objectives The fatty acid 2-hydroxylase gene (FA2H) compound heterozygous or homozygous variants that cause spastic paraplegia type 35 (SPG35) (OMIM # 612319) are autosomal recessive HSPs. FA2H gene variants in humans have been shown to be associated with not only SPG35 but also leukodystrophy and neurodegeneration with brain iron accumulation. Case presentation A patient with a spastic gait since
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Late diagnosis of the X-linked MCT8 deficiency (Allan–Herndon–Dudley syndrome) in a teenage girl with primary ovarian insufficiency J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-12 Swetha Sriram, Nabiha Shahid, Diana Mysliwiec D, Uta Lichter-Konecki, Svetlana A. Yatsenko, Luigi R. Garibaldi
Objectives To report an unusual case of MCT8 deficiency (Allan–Herndon–Dudley syndrome), an X-linked condition caused by pathogenic variants in the SLC16A2 gene. Defective transport of thyroid hormones (THs) in this condition leads to severe neurodevelopmental impairment in males, while heterozygous females are usually asymptomatic or have mild TH abnormalities. Case presentation A girl with profound
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Predictive factors for lung metastasis in pediatric differentiated thyroid cancer: a clinical prediction study J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-09 Hou-fang Kuang, Wen-liang Lu
Objectives The objective of this study was to develop and evaluate the efficacy of a nomogram for predicting lung metastasis in pediatric differentiated thyroid cancer. Methods The SEER database was utilized to collect a dataset consisting of 1,590 patients who were diagnosed between January 2000 and December 2019. This dataset was subsequently utilized for the purpose of constructing a predictive
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A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-02-04 Yuji Oto, Daiki Suzuki, Tsubasa Morita, Takeshi Inoue, Akihisa Nitta, Nobuyuki Murakami, Yuuka Abe, Yoshinobu Hamada, Tomoyuki Akiyama, Tomoyo Matsubara
Objectives Hypophosphatasia (HPP) is a rare skeletal dysplasia caused by variants in the alkaline phosphatase (ALPL) gene. More than 400 pathogenic variants of the ALPL gene have been registered in the ALPL gene variant database. Here, we describe the case of a Japanese child with odonto-hypophsphatasia (odonto-HPP) and a novel ALPL variant. Case presentation At the age of 2 years and 1 month, he prematurely
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Review on the screening of urine glucose for early diagnosis of type 2 diabetes mellitus in school children and adolescents with obesity in Hong Kong J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-01-29 Gloria Shir-Wey Pang, Thomas Wai-Hung Chung, Heather Hiu-Ting Choy, Ching-Yin Lee, Joanna Yuet-Ling Tung, Antony Chun-Cheung Fu, Jennifer Wing-Yan Tsang, Ho-Chung Yau, Kiran M. Belaramani, Lap-Ming Wong, Betty Wai-Man But, Jasmine Chi-Kwan Chow, Shirley Man-Yee Wong, Patrick Chi-Hung Cheung, Priscilla Wai-Chee Lo, Kwok-Leung Ng, Sarah Wing-Yiu Poon, Kwong Tat Chan, Angela Mo-Kit Chan, Sammy Wai-Chun
Objectives Obesity and type 2 diabetes mellitus (T2DM) are growing health concerns. Since 2005, Student Health Service (SHS) and Hong Kong Paediatric Society formulated a protocol on urine glucose screening (UGS) for early diagnosis of T2DM in students with obesity in Hong Kong. This study reviews students with T2DM captured by this screening program and compare the data with the Hong Kong Children
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Hypothyroxinemia and weight velocity in preterm infants J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-01-28 Meira Zibitt, Brittany Ange, Zanna Wynter, Cynthia Mundy, Steve Herrmann, Brian K. Stansfield
Objectives Hypothyroxinemia of prematurity (HOP) is characterized by low free thyroxine (FT4) associated with low or normal thyroid stimulating hormone (TSH). The objective of this study is to define FT4 and TSH values in very preterm infants (<32 weeks postmenstrual age, PMA) and correlate hypothyroxinemia and levothyroxine treatment with growth velocity at 28 days and 36 weeks PMA. Methods Preterm
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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 J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-01-28 Preeti Sharma, Varuna Vyas, Siyaram Didel, Kuldeep Singh
Objectives Hyperglycemia is a known side effect of anticancer chemotherapeutic drugs. This entity known as drug-induced diabetes mellitus usually does not present with the development of diabetic ketoacidosis (DKA). We hereby report a case of drug induced diabetes mellitus in a child with acute leukemia presenting with DKA. Case presentation We report a case of a teenage boy diagnosed with B cell acute
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Thyroid hormone resistance and large goiter mimicking infiltrative carcinoma in a pediatric patient J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-01-24 Carly Baxter, Claudia Martinez-Rios, Alexandra Ahmet
Background Resistance to thyroid hormone (RTH) is a genetic condition, caused by mutations in the thyroid hormone receptor gene and characterized by impaired end organ responsiveness to thyroid hormone. Here we describe a novel case of THR associated with large goiter mimicking infiltrative c. Case presentation A 13-year-old male with a hyperthyroid phenotype of RTH diagnosed as a toddler, on methimazole
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Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GNR gene: case report and review of literature J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-01-22 İlknur Sürücü Kara, Engin Köse, Büşranur Çavdarlı, Fatma Tuba Eminoğlu
Objectives Neuronal ceroid lipofuscinosis type 11 (NCL11) is a rare disease that presents with progressive cognitive decline, epilepsy, visual impairment, retinal atrophy, cerebellar ataxia and cerebellar atrophy. We present herein a case of NCL11 in a patient diagnosed with neuromotor developmental delay, epilepsy, bronchiolitis obliterans and hypothyroidism. Case presentation A 4-year-old male patient
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Factors associated with neonatal hyperinsulinemic hypoglycemia, a case-control study J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-01-18 Thanaporn Rattanasakol, Ratchada Kitsommart
Objectives We aimed to identify perinatal risk factors associated with hyperinsulinemic hypoglycemia in neonates. Secondary objectives included an examination of clinical and biochemical characteristics at the time of diagnosis and an exploration of the duration of diazoxide therapy. Methods A case-control study was conducted, involving individual chart reviews of inborn infants diagnosed with hyperinsulinemic
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The effect of gonadotropin-releasing hormone analog treatment on the endocrine system in central precocious puberty patients: a meta-analysis J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-01-18 Na Guo, Fei Zhou, Xiaolan Jiang, Linlin Yang, Huijuan Ma
Objectives Gonadotropin-releasing hormone (GnRHa) is the first choice for the treatment of patients with central precocious puberty (CPP). However, the effects of GnRHa on the endocrine system of CPP patients, including insulin sensitivity, lipid level, thyroid function, bone mineral density (BMD), and testosterone (T) level, are currently contradictory. Therefore, the long-term safety of GnRHa therapy
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Validity and reliability of parent assessments of pubertal maturation among adolescent girls in Isfahan, Iran J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-01-10 Nafiseh Mozafarian, Mahin Hashemipour, Mohammad Reza Maracy, Seyed Ali Madineh, Raheleh Farahi, Roya Kelishadi
Objectives The current paper presents the steps considered for validation of a questionnaire for assessment of sexual maturity among Iranian adolescent girls. Methods This cross-sectional study was performed in 2022 in Isfahan, Iran. Based on the Growth and Development Questionnaire that included both the Pubertal Development Scale (PDS) and Sexual Maturation Scale (SMS), two Persian questionnaires
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Evaluation of the role of FTO (rs9939609) and MC4R (rs17782313) gene polymorphisms in type 1 diabetes and their relation to obesity J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-01-10 Youssef M. Mosaad, Mena Morzak, Farha Abd El Aziz El Chennawi, Ashraf A. Elsharkawy, Maha Abdelsalam
Objectives This study aims to explore the effects of fat mass obesity-associated (FTO) (rs9939609) and melanocortin 4 receptor (MC4R) (rs17782313) gene polymorphisms in children with type 1 diabetes (T1D) and their relation to obesity. Methods Fat mass obesity-associated (FTO) (rs9939609) and melanocortin 4 receptor (MC4R) (rs17782313) gene polymorphisms were evaluated in 164 patients and 100 controls
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Artificial intelligence in paediatric endocrinology: conflict or cooperation J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-01-06 Paul Dimitri, Martin O. Savage
Artificial intelligence (AI) in medicine is transforming healthcare by automating system tasks, assisting in diagnostics, predicting patient outcomes and personalising patient care, founded on the ability to analyse vast datasets. In paediatric endocrinology, AI has been developed for diabetes, for insulin dose adjustment, detection of hypoglycaemia and retinopathy screening; bone age assessment and
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From neglect to peril: diabetic ketoacidosis unleashing colonic necrosis and perforation in an adolescent girl with type 1 diabetes mellitus J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-01-03 Mritunjay Kumar, Rini Dixit, Rohit Kapoor, Sunita Singh
Objectives Abdominal pain is a common presentation in patients of diabetic ketoacidosis (DKA). However, this pain generally resolves with resolution of dehydration and acidosis. Persistence of abdominal pain even after resolution of ketosis and acidosis should warrant careful reassessment to find evidence of sepsis and concomitant abdominal pathology. Case presentation We report a rare case of type
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Newborn screening for primary carnitine deficiency using a second-tier genetic test J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-12-30 Yiming Lin, Chunmei Lin, Zhenzhu Zheng, Chenggang Huang, Weilin Peng
Objectives Newborn screening (NBS) for primary carnitine deficiency (PCD) exhibits suboptimal performance. This study proposes a strategy to enhance the efficacy of second-tier genetic screening by adjusting the cutoff value for free carnitine (C0). Methods Between January 2021 and December 2022, we screened 119,898 neonates for inborn metabolic disorders. Neonates with C0 levels below 12 μmol/L were
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Effect of daily zinc supplementation for 12 weeks on serum thyroid auto-antibody levels in children and adolescents with autoimmune thyroiditis – a randomized controlled trial J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-12-28 Ramachandran (Ramge) Sivakumar, Delhikumar Chinnaiah Govindareddy, Jayaprakash Sahoo, Zachariah Bobby, Palanivel Chinnakali
Objectives To assess the effect of daily zinc supplementation for 12 weeks on thyroid auto-antibodies – thyroid peroxidase antibody (TPOAb) and thyroglobulin antibody (TgAb), and oxidative stress in children with autoimmune thyroid disease (AITD) compared to standard therapy. Methods This open-labeled, parallel, randomized controlled trial was done in a tertiary care teaching institute in south India
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Letter to the editor: congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants: a case report with 6 years follow-up J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-12-28 Peipei Hui, Congli Chen, Yanmei Sang
Congenital hyperinsulinism (CHI) with variants in ABCC8 and KCNJ11 is highly correlated with poor responsiveness to diazoxide, a first-line medication of CHI. Currently, there is only one reported case of a patient with CHI due to double heterozygous variants of ABCC8 and KCNJ11. Little is known about the long-term prognosis of the CHI patient with ABCC8 and KCNJ11 double heterozygous variants. Herein
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Lack of association between month of birth and risk of developing type 1 diabetes in Brazil: a 40-year analysis J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-12-28 João Vitor Mota Lanzarin, Luís Expedito Sabage, Marina Donda Louro, Rodrigo Lima de Meo Martins, Jair Licio Ferreira Santos, Lenita Zajdenverg, Carlos Antonio Negrato
Objectives Seasonal environment at birth may influence diabetes incidence in later life. We sought evidence for this effect and analyzed the association between the month of birth and the risk of developing type 1 diabetes mellitus (T1DM). Methods This was a cohort study carried out with 814 patients diagnosed with T1DM in the region of Bauru – São Paulo State, Brazil, receiving medical care in a private
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Unusual onset of Graves’ disease associated with thymic hyperplasia in a 5-year-old girl with congenital bilateral clinical anophthalmia: diagnostic and therapeutic challenges J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-12-26 Rania Ben Rabeh, Ahmed Bouzidi, Rim Hamdi, Nada Missaoui, Olfa Bouyahia, Sonia Mazigh, Samir Boukthir
Objectives Graves’ disease (GD) is a rare auto-immune disorder in pediatric population. The association between GD and thymic hyperplasia was rarely reported in children. Diagnosis and management of GD are challenging in children. Case presentation This report presents the case of a 5-year-old girl with a personal history of asthma and congenital bilateral isolated clinical anophthalmia who presented
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Correlation between serum vitamin D level and uterine volume in girls with idiopathic central precocious puberty J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-12-20 Jun Sun, Wei Wang, Ya Xiao, Niu-niu Cao, Yi-fan Wang, Hong-ru Zhang, Shu-qin Jiang
Objectives Investigate serum vitamin D (vit D) levels’ relation to uterine volume in idiopathic central precocious puberty (ICPP) girls and compare findings with normal peers. Methods Analyzed 278 ICPP cases from January 2017 to September 2022 alongside 239 normally developing girls. Collected clinical data and lab markers and performed subgroup analysis based on vit D levels. Correlation and regression
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Myoinositol or D-chiro-inositol for PCOS symptoms in adolescents: a narrative review J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-12-20 Bibi Zeyah Fatemah Sairally, Rima K. Dhillon-Smith, Geetu Jethwani, Pallavi Latthe
Introduction Polycystic ovary syndrome (PCOS) treatment in adolescents currently focuses on lifestyle interventions, with pharmacological treatment options often limited to hormonal contraceptives. Several of these carry broad side-effect profiles and are not always accepted by young girls. There is growing interest in non-hormonal therapies for PCOS. We aimed to collate the evidence on the use of
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Effects of the COVID-19 pandemic on the incidence of central precocious puberty; a narrative review J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-12-14 Rebecca B. Hoskyns, Sasha R. Howard
Central precocious puberty (CPP) is the premature activation of the hypothalamus–pituitary–gonadal axis, resulting in the early development of secondary sexual characteristics. CPP classically occurs before the age of 8 years in girls and 9 years in boys. The aetiology of this precocious onset of puberty is governed by complex mechanistic interactions between genetic and environmental factors. The
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Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-12-13 John Odom, Carlos A. Bacino, Lefkothea P. Karaviti, Weimin Bi, Alfonso Hoyos-Martinez
Objectives Pseudohypoparathyroidism (PHP1B) is most commonly caused by epigenetic defects resulting in loss of methylation at the GNAS locus, although deletions of STX16 leading to GNAS methylation abnormalities have been previously reported. The phenotype of this disorder is variable and can include hormonal resistances and severe infantile obesity with hyperphagia. A possible time relationship between
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Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in TRPM6 gene J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-12-12 İpek Dokurel Çetin, Hamide Betül Gerik-Çelebi, Meliha Demiral, Orkun Çetin
Objectives Hereditary hypomagnesemia with secondary hypocalcemia (HSH), which results from variations in the transient receptor potential melastatin 6 (TRPM6) genes, is a rare hereditary cause of extremely low serum magnesium levels. We describe an infant with triggered seizures due to hypomagnesemia and a novel mutation in TRPM6 gene was identified. Case presentation A 10-month-old boy presented with
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Gender-related differences in cardiometabolic risk factors and oxidative stress among prepubertal children with obesity J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-12-06 Nelson Godinho, Manuela Morato, António Albino-Teixeira, Alberto Caldas Afonso, Teresa Sousa, Liane Correia-Costa
Objectives Gender-related differences in oxidative stress, nitric oxide bioavailability, and cardiometabolic risk factors were examined in a cross-sectional study involving 313 prepubertal children (8–9 years old) from the generation XXI birth-cohort. Methods Anthropometric measurements, cardiometabolic variables, and redox markers were assessed, including plasma and urinary isoprostanes (P-Isop, U-Isop)
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Diagnostic model based on multiple factors for girls with central precocious puberty J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-12-04 Ziqin Liu, Qinwei Song
Objectives The GnRH stimulation test has been used as the gold standard for the diagnosis of central precocious puberty (CPP), but it has some practical barriers. This study intends to build a diagnostic model of CPP in girls based on the population in northern China. Methods A total of 163 girls with precocious puberty (PP) were included from December 2018 to December 2019. Multifactor logistic regression
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Letrozole combined with rhGH treatment increases the adult height of short pubertal boys J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-29 Mingming He, Yanhong Zhang, Qianqian Zhao, Dongye He, Yanying Li, Mei Zhang, Bo Ban
Objectives This study was performed to investigate the effectiveness of the combination of letrozole and recombinant human growth hormone (rhGH) to improve the predicted adult height (PAH) and final adult height (FAH) of Chinese short pubertal boys. Methods In total, 171 Chinese short pubertal boys were recruited for this study. 96 of them received letrozole (2.5 mg/d) combined with rhGH (33.3–66.6
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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 J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-28 Najla Ben Ghashir, Abdulghani Elomami, Reham Al Masoud, Vito Carlo Alberto Caponio, Eiman Al Seddeeqi
Objectives Pediatric thyroid cancer represents 2.3 % of thyroid cancers, and its long-term outcome data are sparse. There have not been studies in the UAE delineating its epidemiology, clinical and histological characteristics, and follow-up outcomes. We aimed to evaluate the clinical–pathological behavior, recurrence and survival rates in pediatrics with all types of thyroid cancer in the UAE. Methods
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Ambulatory blood pressure monitorisation in children with recombinant growth hormone treatment J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-27 Emel Hatun Aytaç KAPLAN, Zümrüt Kocabey Sütçü, Eren Soyaltın, Hasan Onal
Objectives It is safe to use recombinant growth hormone in children. Studies have shown it to be effective and safe, except for a few side effects in the short and long term after treatment. The present study investigated the presence of hypertension in pediatric patients receiving growth hormone treatment using 24 h ambulatory blood pressure monitoring (ABPM). Methods This study is a single-center
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Longitudinal assessment of auxological parameters, adult height outcome and its determinants in leuprolide-treated Indian girls with idiopathic central precocious puberty J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-27 Shruti Mondkar, Vaman Khadilkar, Sushil Yewale, Nimisha Dange, Chidvilas More, Anuradha Khadilkar
Objectives To assess auxological parameters, adult height outcome and its determinants in Indian girls with idiopathic central precocious puberty (iCPP) treated with gonadotropin-releasing hormone analogues (GnRHa). Methods Retrospective study. Inclusion: data on girls with iCPP from initiation to stopping GnRHa (n=179). Exclusion: boys, peripheral, organic central precocity. Results Mean age of starting
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Hypothalamic-pituitary dysfunction in Sturge–Weber syndrome: case report and review of the literature J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-25 Somar A. Hadid, Laila Noor, Tamar Baer, Ronald I. Jacobson, Erika Brutsaert
Objectives Sturge–Weber syndrome (SWS) is a rare neurocutaneous disorder that is characterized by a segmental dermatomal facial port-wine stain birthmark and is frequently accompanied by ipsilateral brain and eye abnormalities. We present a case of a patient with SWS who exhibited hypogonadotropic hypogonadism, growth hormone (GH) deficiency, and central hypothyroidism at the age of 20 despite the
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Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-24 Sasha R. Howard, Richard Quinton
Patients with congenital hypogonadism will encounter many health care professionals during their lives managing their health needs; from antenatal and infantile periods, through childhood and adolescence, into adult life and then old age. The pubertal transition from childhood to adult life raises particular challenges for diagnosis, therapy and psychological support, and patients encounter many pitfalls
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Very elevated serum copeptin concentrations occur in a subset of healthy children in the minutes after phlebotomy J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-22 Shruti Sastry, Christine A. March, Michael J. McPhaul, Luigi R. Garibaldi
Objectives Although AVP and its surrogate, copeptin, are mainly regulated by osmotic and volume stimuli, their secretion is also elicited by stress and growth hormone (GH) stimulating agents. The aim of this report is to describe unusual patterns of copeptin response in a subset of children undergoing GH stimulation tests (GH-ST). Methods We conducted a secondary analysis of a cohort of 93 healthy
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The use of CGM to identify hypoglycemia and glycemic patterns in congenital hyperinsulinism J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-21 Martin Gariepy, Niyoosha Yoosefi, Carolina Silva, Jean-Pierre Chanoine, Fatema S. Abdulhussein
Objectives Unrecognized hypoglycemia, especially in the neonatal population, is a significant cause of morbidity and poor neurologic outcomes. Children with congenital hyperinsulinism (HI) are at risk of hypoglycemia and point of care testing (POCT) is the standard of care. Studies have shown that continuous glucose monitoring (CGM) improves glycemic control and reduces the frequency of hypoglycemia
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Alpha-mannosidosis: a case with novel ultrastructural and light microscopy findings J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-18 Matthew Leong, Bindu Sathi, Amy Davis, Syed Hamid, Sandy Wu, Jeremy Woods, Sandhya Kharbanda, Xiaomo Li, Jean Hou
Objectives Alpha-mannosidosis is a rare genetic lysosomal storage condition leading to the systemic buildup of oligomannoside. Clinical presentation and associated conditions, as well as the full extent of histopathologic changes associated with this disease process, are not fully understood. Case presentation We present the case of an 8-year-1-month old patient with persistent anemia and who was initially
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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 J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-17 Siqi Huang, Lina Zhang, Chenchen Gao, Hui Ou, Lele Hou, Zulin Liu, Dilong Wang, Yingying Xu, Liyang Liang, Zhe Meng
Objectives This study aimed to evaluate the efficacy and safety of 3-month leuprorelin acetate (3-month LA, 11.25 mg) for the treatment of idiopathic central precocious puberty (ICPP) in Chinese girls. Methods We conducted a single-center retrospective study in China on 28 girls with ICPP who received at least one year of 3-month LA treatment. Data from anthropometry, biochemistry, bone age (BA), and
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MicroRNA-29a and microRNA-122 expressions and other inflammatory markers among obese children with diabetes J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-15 Nervana M. K. Bayoumy, Mohamed M. El-Shabrawi, Wafaa Elsayed, Hagar A. Kamal, Asmaa K. abdelmaogood, Shymaa Ahmed-Maher, Hamdy H. Omar, Ahmed Abdel-Rahman
Objectives This study was conducted to study the expression of both microRNA-29a and microRNA-122, and serum levels of sestrin-2, interleukin-6 (IL-6), and other inflammatory markers among obese children with/and without diabetes mellitus. Methods One hundred obese children with diabetes in addition to 100 age- and sex-matched obese children without diabetes, and 100 age- and sex-matched apparently
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Health related quality of life is associated with gastroesophageal reflux symptoms in overweight children J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-09 Zita Andrásdi, Katalin E. Müller, Zsuzsanna Gaál, Éva Nemes, Enikő Felszeghy
Objectives The association between obesity and gastroesophageal reflux disease (GERD) is well-established in adults; however, data in pediatric population is scarce. Our study aimed to assess the association between GERD and health-related quality of life (HRQoL) in overweight children. Methods From April to August of 2020, we included children aged 7–18 years who attended the Endocrinological Outpatient
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Features of liver injury in 138 Chinese patients with NICCD J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-08 MinYan Jiang, MinZhi Peng, ZhiKun Lu, YongXian Shao, ZongCai Liu, XiuZhen Li, YunTing Lin, Li Liu, Wen Zhang, YanNa Cai
Objectives To find biochemical and molecular markers can assist in identifying serious liver damage of NICCD patients. Methods 138 patients under 13 days to 1.1 year old diagnosed of NICCD in our center from 2004 to 2020. Base on the abnormal liver laboratory tests, we divided 138 patients into three groups: acute liver failure (ALF), liver dysfunction, and non-liver dysfunction groups, then compared
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Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2023-11-05 Havva Yazıcı, Gunes Ak, Merve Yoldas Çelik, Fehime Erdem, Ayse Yuksel Yanbolu, Esra Er, Ayse Ergül Bozacı, Merve Saka Güvenç, Ayca Aykut, Asude Durmaz, Ebru Canda, Sema Kalkan Uçar, Mahmut Çoker
Objectives Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation. Three clinical phenotypes, lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form, have been described in CPT II deficiency. The myopathic form is usually mild and can manifest from infancy to adulthood, characterised by recurrent rhabdomyolysis