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"Congenital hypothyroidism"

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https://www.readbyqxmd.com/read/28634271/development-of-the-thyroid-gland
#1
REVIEW
Mikael Nilsson, Henrik Fagman
Thyroid hormones are crucial for organismal development and homeostasis. In humans, untreated congenital hypothyroidism due to thyroid agenesis inevitably leads to cretinism, which comprises irreversible brain dysfunction and dwarfism. Elucidating how the thyroid gland - the only source of thyroid hormones in the body - develops is thus key for understanding and treating thyroid dysgenesis, and for generating thyroid cells in vitro that might be used for cell-based therapies. Here, we review the principal mechanisms involved in thyroid organogenesis and functional differentiation, highlighting how the thyroid forerunner evolved from the endostyle in protochordates to the endocrine gland found in vertebrates...
June 15, 2017: Development
https://www.readbyqxmd.com/read/28633507/digenic-duox1-and-duox2-mutations-in-cases-with-congenital-hypothyroidism
#2
Zehra Aycan, Hakan Cangul, Marina Muzza, Veysel N Bas, Laura Fugazzola, V Krishna Chatterjee, Luca Persani, Nadia Schoenmakers
Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the TPO-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic Congenital Hypothyroidism (CH) which may be phenotypically heterogeneous, leading to the hypothesis that CH severity may be influenced by environmental factors (eg dietary iodine) and oligogenic modifiers (eg variants in the homologous NADPH-oxidase DUOX1). However, loss of function mutations in DUOX1 have not hitherto been described and its role in thyroid biology remains undefined...
June 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28626131/homozygous-duoxa2-mutation-p-tyr138-in-a-girl-with-congenital-hypothyroidism-and-her-apparently-unaffected-brother-case-report-and-review-of-the-literature
#3
Chiho Sugisawa, Shinji Higuchi, Masaki Takagi, Yukihiro Hasegawa, Matsuo Taniyama, Kiyomi Abe, Tomonobu Hasegawa, Satoshi Narumi
Mutations in DUOXA2, encoding dual oxidase maturation factor 2, is a rare genetic cause of congenital hypothyroidism. Only four biallelic DUOXA2 mutation carriers have been described to date. This study was conducted to report the clinical and genetic findings of a DUOXA2 mutation-carrying family, and to review the previously reported cases. The proband was a 4-year-old girl, who was diagnosed as having congenital hypothyroidism in the frame of newborn screening. She had a high serum TSH level (138 mU/L) and a low free T4 level (0...
June 16, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28620499/intrauterine-death-following-intraamniotic-triiodothyronine-and-thyroxine-therapy-for-fetal-goitrous-hypothyroidism-associated-with-polyhydramnios-and-caused-by-a-thyroglobulin-mutation
#4
Pradeep Vasudevan, Corrina Powell, Adeline K Nicholas, Ian Scudamore, James Greening, Soo-Mi Park, Nadia Schoenmakers
In the absence of maternal thyroid disease or iodine deficiency, fetal goitre is rare and usually attributable to dyshormonogenesis, for which genetic ascertainment is not always undertaken in the UK. Mechanical complications include tracheal and oesophageal compression with resultant polyhydramnios, malpresentation at delivery and neonatal respiratory distress. We report an Indian kindred in which the proband (first-born son) had congenital hypothyroidism (CH) without obvious neonatal goitre. His mother's second pregnancy was complicated by fetal hypothyroid goitre and polyhydramnios, prompting amniotic fluid drainage and intraamniotic therapy (with liothyronine, T3 and levothyroxine, T4)...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28600385/trends-in-scottish-newborn-screening-programme-for-congenital-hypothyroidism-1980-2014-strategies-for-reducing-age-at-notification-after-initial-and-repeat-sampling
#5
Chourouk Mansour, Yasmine Ouarezki, Jeremy Jones, Moira Fitch, Sarah Smith, Avril Mason, Malcolm Donaldson
OBJECTIVES: To determine ages at first capillary sampling and notification and age at notification after second sampling in Scottish newborns referred with elevated thyroid-stimulating hormone (TSH). SUBJECTS AND METHODS: Referrals between 1980 and 2014 inclusive were grouped into seven 5-year blocks and analysed according to agreed standards. RESULTS: Of 2 116 132 newborn infants screened, 919 were referred with capillary TSH elevation ≥8 mU/L of whom 624 had definite (606) or probable (18) congenital hypothyroidism...
June 9, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28588801/interstitial-lung-disease-of-infancy-caused-by-a-new-nkx2-1-mutation
#6
Khalid H Safi, John A Bernat, Catherine E Keegan, Ayesha Ahmad, Marc B Hershenson, Manuel Arteta
Patients with personal or family history of congenital hypothyroidism, and/or neurological findings that also have chronic respiratory symptoms may have a mutation in the NKX2.1 gene as the unifying cause of their disease. Brain-lung-thyroid disease is the ensuing condition, which although rare, needs to be part of the differential diagnosis.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28561265/mild-tsh-resistance-clinical-and-hormonal-features-in-childhood-and-adulthood
#7
Maria Cristina Vigone, Marianna Di Frenna, Fabiana Guizzardi, Giulia Gelmini, Tiziana de Filippis, Stefano Mora, Silvana Caiulo, Micol Sonnino, Marco Bonomi, Luca Persani, Giovanna Weber
OBJECTIVE: Mutations in TSH receptor (TSHR) are associated with TSH resistance, a genetic defect characterized by a heterogeneous phenotype ranging from severe hypothyroidism to subclinical hypothyroidism (SCH). We assessed the clinical and hormonal pattern of TSHR variants in a series of pediatric patients, and the long-term outcome of growth, biochemical measurements of metabolism and neuropsychological functions in TSHR mutations carriers. DESIGN: Observational, retrospective study...
May 31, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28549061/central-hypothyroidism-a-neglected-thyroid-disorder
#8
REVIEW
Paolo Beck-Peccoz, Giulia Rodari, Claudia Giavoli, Andrea Lania
Central hypothyroidism is a rare and heterogeneous disorder that is characterized by a defect in thyroid hormone secretion in an otherwise normal thyroid gland due to insufficient stimulation by TSH. The disease results from the abnormal function of the pituitary gland, the hypothalamus, or both. Moreover, central hypothyroidism can be isolated or combined with other pituitary hormone deficiencies, which are mostly acquired and are rarely congenital. The clinical manifestations of central hypothyroidism are usually milder than those observed in primary hypothyroidism...
May 26, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28546969/modification-of-infant-hypothyroidism-and-phenylketonuria-screening-program-using-electronic-tools
#9
Behjat Taheri, Asefeh Haddadpoor, Mahmood Mirkhalafzadeh, Fariba Mazroei, Pezhman Aghdak, Mehran Nasri, Gholamreza Bahrami
BACKGROUND: Congenital hypothyroidism and phenylketonuria (PKU) are the most common cause for preventable mental retardation in infants worldwide. Timely diagnosis and treatment of these disorders can have lasting effects on the mental development of newborns. However, there are several problems at different stages of screening programs that along with imposing heavy costs can reduce the precision of the screening, increasing the chance of undiagnosed cases which in turn can have damaging consequences for the society...
2017: Journal of Education and Health Promotion
https://www.readbyqxmd.com/read/28541007/compound-heterozygous-mutations-in-the-duox2-duoxa2-genes-cause-congenital-hypothyroidism
#10
Xiao Zheng, Shao Gang Ma, Man Li Guo, Ya Li Qiu, Liu Xue Yang
The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygous mutations in the DUOX2 and DUOXA2 genes. The two sisters with GCH were diagnosed with CH at neonatal screening and were enrolled in this study. The DUOX2, DUOXA2, and thyroid peroxidase (TPO) genes were considered for genetic defects screening. Family members of the patients and normal controls were also enrolled and evaluated...
July 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28534114/pediatric-hypothyroidism-diagnosis-and-treatment
#11
Ari J Wassner
Thyroid hormone has important physiologic functions in nearly every organ system. The critical role of thyroid hormone in growth and in physical and neurologic development lends particular importance to the prompt diagnosis and appropriate treatment of hypothyroidism in infants and children. Congenital hypothyroidism is common and has potentially devastating neurologic consequences. While the approach to diagnosis and treatment of severe congenital hypothyroidism is well established, data continue to emerge about the genetic causes, clinical significance, and prognosis of the milder forms of congenital hypothyroidism that are increasingly being diagnosed by newborn screening...
May 22, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28523428/the-potential-role-of-kr%C3%A3-ppel-like-zinc-finger-protein-glis3-in-genetic-diseases-and-cancers
#12
REVIEW
Chon-Kit Chou, Chin-Ju Tang, Han-Lin Chou, Chun-Yen Liu, Ming-Chong Ng, Yu-Ting Chang, Shyng-Shiou F Yuan, Eing-Mei Tsai, Chien-Chih Chiu
Gli-similar 3 (Glis3) belongs to a Glis subfamily of Krüppel-like zinc-finger transcription factors characterized to regulate a set of downstream targets essential for cellular functions, including pancreatic development, β-cell maturation and maintenance, and insulin production. Examination of the DNA-binding domain of Glis3 reveals that this domain contains a repeated cysteine 2/histidine 2 (Cys2/His2) zinc-finger motif in the central region where the recognized DNA sequence binds. The loss of the production of pancreatic hormones, such as insulin 1 and 2, is linked to the down-regulation of β cells-related genes and promotes the apoptotic death of β cells found in mutant Glis3...
May 18, 2017: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/28508616/ultrasound-elastography-in-pediatric-congenital-hypothyroid-patients
#13
Mehmet Akif Sarıca, Tahir Dalkıran, Mehmet Sait Menzilcioğlu, Mahmut Duymuş, Nursel Yurttutan
OBJECTIVES: Congenital hypothyroidism (CH) is most frequently encountered in newborns as an endocrine disorder characterized by thyroid hormone deficiency, and is one of the most common reasons for preventable mental retardation. This prospective study was designed to detect the pediatric occurrences of CH followed as euthyroid, with no anomalies detected via US on the gray scale, in comparison with a pediatric group with normal levels. METHODS: A total of 42 apparently healthy children with no thyroid disorder (Group 1) and 54 euthyroid CH (Group 2) using thyroid hormone were included in this study...
September 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28504502/-transient-congenital-hypothyroidism-due-to-biallelic-defects-of-duox2-gene-two-clinical-cases
#14
Rosa E Enacán, María E Masnata, Fiorella Belforte, Patricia Papendieck, María C Olcese, Sofía Siffo, Laura Gruñeiro-Papendieck, Héctor Targovnik, Carina M Rivolta, Ana E Chiesa
Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clínicos Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases Mutations in the DUOX2 gene have been described in transient and permanent congenital hypothyroidism. Two brothers with congenital hypothyroidism detected by neonatal screening with eutopic gland and elevated thyroglobulin are described...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28497359/the-pattern-of-thalamocortical-and-brain-stem-projections-to-the-vibrissae-related-sensory-and-motor-cortices-in-de-whiskered-congenital-hypothyroid-rats
#15
Mohammad Reza Afarinesh, Gila Behzadi
The present study is designed to investigate the plastic organization of the thalamo-cortical (TC) and brain stem afferents of whisker primary sensory (wS1) and motor (wM1) cortical areas in congenital hypothyroid (CH) pups following whisker deprivation (WD) from neonatal to adolescence period. Maternal hypothyroidism was induced by adding propylthiouracil (PTU) to the drinking water from early embryonic day 16 to postnatal day (PND) 60. Pregnant rats were divided into intact and CH groups (n = 8). In each group, the total whiskers of pups (4 of 8) were trimmed continuously from PND 1 to PND 60...
May 11, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28476227/defects-of-thyroid-hormone-synthesis-and-action
#16
REVIEW
Zeina C Hannoush, Roy E Weiss
Congenital hypothyroidism (CH) is the most common inborn endocrine disorder and causes significant morbidity. To date, we are only aware of the molecular basis responsible for the defects in a small portion of patients with CH. A better understanding of the pathophysiology of these cases at the genetic and molecular basis provides useful information for proper counseling to patients and their families a well as for the development of better targeted therapies. This article provides a succinct outline of the pathophysiology and genetics of the known causes of thyroid dysgenesis, dyshormonogenesis, and syndrome of impaired sensitivity to thyroid hormone...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28455095/next-generation-sequencing-of-nkx2-1-foxe1-pax8-nkx2-5-and-tshr-in-100-chinese-patients-with-congenital-hypothyroidism-and-athyreosis
#17
Fang Wang, Chang Liu, Xiuhua Jia, Xiangju Liu, Yinglei Xu, Shengli Yan, Xuewen Jia, Zuzhou Huang, Shiguo Liu, Maosheng Gu
BACKGROUND: The abnormal expression of certain transcription factors (NKX2.1, FOXE1, NKX2.5, and PAX8) and thyroid stimulating hormone receptor (TSHR) genes has been associated with athyreosis, which is a form of thyroid dysgenesis (TD). We aimed to identify candidate gene mutations in CH patients with athyreosis and to establish the genotype-phenotype correlations in a Chinese population. METHODS: The exons and flanking sequences of NKX2.1, FOXE1, NKX2.5, PAX8, and TSHR were screened by next-generation sequencing and further confirmed by direct Sanger sequencing...
July 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28444304/a-frequent-oligogenic-involvement-in-congenital-hypothyroidism
#18
Tiziana de Filippis, Giulia Gelmini, Elvezia Paraboschi, Maria Cristina Vigone, Marianna Di Frenna, Federica Marelli, Marco Bonomi, Alessandra Cassio, Daniela Larizza, Mirella Moro, Giorgio Radetti, Mariacarolina Salerno, Diego Ardissino, Giovanna Weber, Davide Gentilini, Fabiana Guizzardi, Stefano Duga, Luca Persani
Congenital Hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in < 10% of the investigated patients. Here, we characterize the involvement of 11 candidate genes through a systematic Next Generation Sequencing (NGS) analysis. The NGS was performed in 177 unrelated CH patients (94 gland-in-situ; 83 dysgenesis) and in 3,538 control subjects...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28428677/hypothyroidism-in-pediatric-population-bosnian-and-herzegovinian-situation
#19
Edo Hasanbegovic, Snijezana Hasanbegovic, Edin Begic
INTRODUCTION: Thyroid gland diseases in children are in second place by frequency among all endocrine disorders. When interpreting the results of the thyroid function assessment it should be taken into account the significant differences in the concentrations of TSH, thyroid hormones, thyroid binding proteins and calcitonin among children of different ages. GOAL: To present the age and sex structure of the patients diagnosed with hypothyroidism, evaluate diagnostic methods for making diagnosis, evaluation of etiology of hypothyroidism, with special review of the therapeutic modality...
February 2017: Medical Archives
https://www.readbyqxmd.com/read/28419241/central-hypothyroidism-due-to-a-trhr-mutation-causing-impaired-ligand-affinity-and-transactivation-of-gq
#20
Marta García, Jesús González de Buitrago, Mireia Jiménez-Rosés, Leonardo Pardo, Patricia M Hinkle, José C Moreno
Context: Central congenital hypothyroidism (CCH) is an underdiagnosed disorder characterized by deficient production and bioactivity of TSH leading to low thyroid hormone synthesis. TRH receptor (TRHR) defects are rare recessive disorders usually associated with incidentally identified CCH and short stature in childhood. Objectives: Clinical and genetic characterization of a consanguineous family of Roma origin with central hypothyroidism and identification of underlying molecular mechanisms...
April 17, 2017: Journal of Clinical Endocrinology and Metabolism
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