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Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-23 Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, Özge Köprülü, Beyhan Özkaya, Gülçin Arslan, Özlem Nalbantoğlu, Filiz Hazan, Behzat Özkan
Objectives Nuclear receptor subfamily 5 group A member 1 (NR5A1) is a transcription factor critical for the development of various organs. Pathogenic variants in NR5A1 are associated with a spectrum of disorders of sex development (DSD). Case report A 15-month-old baby, raised as a girl, was referred for genital swelling and ambiguous genitalia. Born to healthy consanguineous parents, the baby had
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Prenatal presentation of a hyperfunctioning thyroid nodule J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-22 Marinda G. Scrushy, Christopher Liu, Ximena Lopez, Diana Diesen
Objectives Fetal and neonatal hyperthyroidism are most commonly seen in patients whose mothers have Graves’ disease. Rarely, it can be caused by non-autoimmune conditions. As these conditions are rare, the workup and treatment is not uniform and can lead to persistent symptoms and long-term negative health effects. Case presentation This report describes a patient with congenital hyperthyroidism from
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Examination of quality of life and psychiatric symptoms in childhood Graves’ disease J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-22 Gözde Yazkan Akgül, Özge Köprülü
Objectives The aim of our study is to examine the emotional, behavioral problems, and psychiatric symptoms of children diagnosed with Graves’ disease (GD), to assess their quality of life, and to compare with control group. Methods The research was planned as a cross-sectional study and included 16 patients with GD (13 female and three male) and 29 healthy children for control group (19 female and
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Trajectory of the body mass index of children and adolescents attending a reference mental health center J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-18 Juliana Echeveste-Navarrete, Patricia Zavaleta-Ramírez, Maria Fernanda Castilla-Peon
Objectives The primary objective was to describe the standardized body mass index (z-BMI) trajectory of children and adolescents admitted to a psychiatric reference center in Mexico City according to their diagnosis and medication use. The secondary objective was to compare z-BMI between antipsychotic users and non-users. Methods This is a retrospective cohort study. The psychiatric diagnosis, prescribed
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Growth after pediatric kidney transplantation: a 25-year study in a pediatric kidney transplant center J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-17 Ana Raquel Claro, Ana Rita Oliveira, Filipa Durão, Patrícia Costa Reis, Ana Rita Sandes, Carla Pereira, José Esteves da Silva
Objectives Growth failure is one of the major complications of pediatric chronic kidney disease. Even after a kidney transplant (KT), up to 50 % of patients fail to achieve the expected final height. This study aimed to assess longitudinal growth after KT and identify factors influencing it. Methods A retrospective observational study was performed. We reviewed the clinical records of all patients
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Implementation of the Mind Youth Questionnaire (MY-Q) for routine health-related quality of life screening of adolescents with type 1 diabetes in a large tertiary care center J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-17 Aleksandra Stojanova, Mary-Ann Harrison, Nicholas Mitsakakis, Zoyah Thawer, Nardin Kirolos, Liz Stevens, Jolianne Paul, Christine Richardson, Caroline Zuijdwijk, Ellen B. Goldbloom, Sarah Lawrence, Marie-Eve Robinson, Alexandra Ahmet
Objectives Prevalence of diabetes distress and mental health comorbidities among adolescents with type 1 diabetes (T1D) is high. Despite recommendations for routine psychosocial risk assessment, there is little guidance for their implementation. This study aims to describe the implementation and baseline outcomes of the Mind Youth Questionnaire (MY-Q), a validated psychosocial screening tool for health-related
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A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-17 Sabire Gokalp, Asli Inci, Ayse Kilic, Ekin Ozsaydi, Ayse Nur Altun, Fevzi Demir, Filiz Basak Ergin, Mehmet Nuri Ozbek, Ilyas Okur, Fatih Ezgu, Leyla Tumer
Objectives The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported
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Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-16 Ayse Kilic, Merve Emecen Sanli, Ekin Ozsaydı Aktasoglu, Sabire Gokalp, Gürsel Biberoğlu, Aslı Inci, Ilyas Okur, Fatih Suheyl Ezgu, Leyla Tumer
Objectives Gaucher Disease (GD) is a lysosomal storage disease caused by glucocerebrosidase (GCase) enzyme deficiency. Gaucher cells transformed from the macrophages by progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, and other organs. The accumulation of substrate causes inflammation, compromised cellular homeostasis, and disturbed autophagy. It has been hypothesized
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A 14-year-old girl with premature ovarian insufficiency but with a positive pregnancy test J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-15 Robbert N. H. Touwslager, C. Michel Zwaan, Boudewijn Bakker, Eef G. W. M. Lentjes, Leendert H. J. Looijenga, Hanneke M. van Santen
Objectives Childhood cancer survivors are at risk for premature ovarian insufficiency, especially after treatment with alkylating agents. The objective of this report is to highlight a case in which this phenomenon caused a false-positive pregnancy test. Case presentation A workup was performed in a 14-year-old girl with a positive pregnancy test. She was diagnosed with stage IV neuroblastoma of the
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Timing of onset of menses after GnRH agonist treatment for central precocious puberty J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-15 Karen O. Klein, Marcela Vargas Trujillo, Sanja Dragnic, Stephen Van Komen, Moming Li, Peter A. Lee
Objectives To understand possible predictors of the onset of menses after gonadotropin-releasing hormone agonist treatment cessation in girls with central precocious puberty (CPP). Methods This exploratory post hoc analysis of a phase 3 and 4 trial of girls with CPP treated with once-monthly intramuscular leuprolide acetate examined onset of menses after treatment completion using a time-to-event analysis
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Incidences of newly diagnosed childhood diabetes and onset severity: a multicenter regional study in Thailand over two decades and during the COVID-19 pandemic J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-14 Pattharaporn Sinthuprasith, Karn Wejaphikul, Dolrutai Puttawong, Hataitip Tang-Ngam, Naphatsorn Sanrattana, Kevalee Unachak, Prapai Dejkhamron
Objectives While global incidence rates (IR) of childhood diabetes are increasing, there is a notable lack of current information on the incidence of childhood-onset diabetes in Thailand. This study aims to illustrate the age-standardized IR and types of childhood diabetes using multicenter regional data in Northern Thailand from 2005 to 2022 and to assess the impact of the COVID-19 pandemic. Methods
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Association between proinflammatory cytokines and arterial stiffness in type 1 diabetic adolescents J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-09 Mónica Reis, Ana Teixeira, Juliana Cardoso, Teresa Borges, Alberto Caldas Afonso, Liane Correia-Costa
Objectives Type 1 diabetes mellitus is considered a state of chronic low-grade inflammation and activation of the innate immune system, which is regulated by several proinflammatory cytokines and other acute-phase reactants. Arterial stiffness, a dynamic property of the vessels evaluated by the determination of pulse wave velocity (PWV), is increased in diabetic patients and is associated with microvascular
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Does an episode of diabetic ketoacidosis affect thyroid function tests in pediatric patients? J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-03 Gülhan Atakul, Huseyin Anıl Korkmaz, Ahmet Gönüllü, Özlem Saraç Sandal, Özge Köprülü, Nilüfer Uyar, Utku Karaaslan, Hurşit Apa, Hasan Ağın, Behzat Özkan
Objectives The aim of our study was to investigate the changes in thyroid hormone levels during and after acute metabolic disorder in patients with diabetic ketoacidosis (DKA). Methods Eighty five patients diagnosed with DKA were included in the study. Patients with control thyroid function test (TFT) values at admission (the first blood sample) and 1 month later were included in the study. Thyroid
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Diurnal 11-ketotestosterone and 17-hydroxyprogesterone saliva profiles in paediatric classical congenital adrenal hyperplasia J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-04-01 Ilja Dubinski, Susanne Bechtold-Dalla Pozza, Martin Bidlingmaier, James Hawley, Brian Keevil, Sonja Kunz, Hannah Franziska Nowotny, Nicole Reisch, Katharina Schiergens, Lea Tschaidse, Heinrich Schmidt
Objectives The most suitable biochemical markers for therapy adjustment in patients with congenital adrenal hyperplasia are controversial. 11-Oxygenated androgens are a promising new approach. The objective of this study was to investigate the diurnal rhythm of 11-ketotestosterone in children and adolescents in saliva and to correlate it with salivary 17-hydroxyprogesterone. Methods Fifty-one samples
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Tackling access and payer barriers for growth hormone therapy in Saudi Arabia: a consensus statement for the Saudi Working Group for Pediatric Endocrinology J Pediatr. Endocrinol. Metab. (IF 1.4) Pub Date : 2024-03-28 Najya Attia, Khairya Moussa, Abdulaziz Altwaim, Abdulmoein Eid Al-Agha, Ashraf A. Amir, Aseel Almuhareb
Prompt diagnosis and early treatment are key goals to optimize the outcomes of children with growth hormone deficiency (GHD) and attain the genetically expected adult height. Nonetheless, several barriers can hinder prompt diagnosis and treatment of GHD, including payer-related issues. In Saudi Arabia, moderate-to-severe short stature was reported in 13.1 and 11.7 % of healthy boys and girls, respectively
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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)