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Hypothyroid congenital

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https://www.readbyqxmd.com/read/28523428/the-potential-role-of-kr%C3%A3-ppel-like-zinc-finger-protein-glis3-in-genetic-diseases-and-cancers
#1
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/28515030/congenital-central-hypothyroidism-caused-by-a-novel-tsh-beta-subunit-gene-mutation-c-94g-a-in-two-siblings
#2
Bayram Özhan, Özlem Boz Anlaş, Bilge Sarıtepe, Burcu Albuz, Nur Gündüz Semerci
Congenital central hypothyroidism (C-CH) is a very rare disease. Alterations in genes included in pituitary development, mutations of the immunoglobulin superfamily member 1 (IGSF1) and transducin β-like protein 1(TBL1X ) can result in C-CH with multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone receptor or TSH-beta (TSHB) gene are responsible for isolated congenital central hypothyroidism. In this paper, we present 2 patients from the same Turkish family with a novel mutation of TSHB...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28508616/ultrasound-elastography-in-pediatric-congenital-hypothyroid-patients
#3
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
#4
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
#5
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
#6
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
#7
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...
April 25, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28444304/a-frequent-oligogenic-involvement-in-congenital-hypothyroidism
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28414800/semantic-prioritization-of-novel-causative-genomic-variants
#11
Imane Boudellioua, Rozaimi B Mahamad Razali, Maxat Kulmanov, Yasmeen Hashish, Vladimir B Bajic, Eva Goncalves-Serra, Nadia Schoenmakers, Georgios V Gkoutos, Paul N Schofield, Robert Hoehndorf
Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets...
April 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28412200/three-year-follow-up-of-children-with-abnormal-newborn-screening-results-for-congenital-hypothyroidism
#12
Min-Jae Kang, Hye-Rim Chung, Yeon-Joung Oh, Young-Suk Shim, Seung Yang, Il-Tae Hwang
BACKGROUND: To analyze predictive factors suggesting transient congenital hypothyroidism (TCH) compared to permanent congenital hypothyroidism (PCH) or transient thyroid function test (TFT) abnormalities among children who had positive screening results at our centers over the past decade. METHODS: A retrospective chart review of 105 subjects who presented elevated TSH levels on a newborn screening test (NST) was done. TCH was defined when a trial-off therapy was successful, and PCH was defined when a trial failed or when the subject was kept on medication beyond 3 years of age...
March 27, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28398607/wagr-syndrome-and-congenital-hypothyroidism-in-a-child-with-a-mosaic-11p13-deletion
#13
Minh Tuan Huynh, Elise Boudry-Labis, Bénédicte Duban, Joris Andrieux, Cong Toai Tran, Heidi Tampere, Delphine Ceraso, Sylvie Manouvrier, Gérard Tachdjian, Catherine Roche-Lestienne, Catherine Vincent-Delorme
Wilm's tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome, a rare genetic disorder, is caused by the loss of 11p13 region including PAX6 and WT1. We report novel findings in a 28-month-old boy with aniridia, Wilm's tumor, congenital hypothyroidism, and sublingual thyroid ectopia. He was found to have a mosaic 5.28 Mb interstitial deletion of chromosome 11p13 deleting PAX6 and WT1. In order to clarify the mechanism underlying his thyroid dysgenesis, sequence analysis of candidate thyroid developmental genes was performed...
April 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28368265/neurodevelopmental-outcome-of-children-with-congenital-hypothyroidism-diagnosed-in-a-national-screening-program-in-turkey
#14
Bahar Toklu Baysal, Bora Baysal, Ferah Genel, Baris Erdur, Erhan Ozbek, Korcan Demir, Behzat Ozkan
OBJECTIVE: To study the factors affecting a neurodevelopmental status of children with congenital hypothyroidism, diagnosed on national screening program. METHODS: The study was performed in the Pediatric Endocrinology Department of Dr. Behcet Uz Children's Hospital between May 2012 and May 2013. Children with congenital hypothyroidism, aged between 24 and 36 months, diagnosed by national screening program were included in the study group. Healthy subjects at the same age group consisted of the control group...
March 29, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28359061/intrafamilial-phenotypic-variability-and-consequences-of-non-compliance-with-treatment-in-congenital-adrenal-hyperplasia-and-congenital-hypothyroidism-within-a-single-family%C3%A2
#15
Nicola Improda, Caroline Ponmani, Nadia Schoenmakers, Senthil Senniappan, Abigail Atterbury, Angela Barnicoat, Krishna Chatterjee, Mehul T Dattani
BACKGROUND: Coexistence of congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH) due to TG mutation in the same non-consanguineous family is rare. CASE SERIES: We report 4 siblings born to unrelated parents, the father being an asymptomatic carrier of homozygous p.V281L and heterozygous p.I172N CYP21A2 mutations. Sibling 1 had salt-wasting CAH (CYP21A2 genotype Intron 2 splice/p.I172N and p.V281L). She also had CH (TG genotype p.R296/ p.T1416Rfs*30) and learning difficulties...
March 30, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28358714/effects-of-l-thyroxine-treatment-on-heart-functions-in-infants-with-congenital-hypothyroidism
#16
Alev Arslan, Veysel Nijat Baş, Salih Uytun, Hatice Gamze Poyrazoğlu
BACKGROUND: Impaired heart functions in newborns with hypothyroidism should be reversed by levothyroxine substitution therapy. The aim of the study was to investigate heart functions with congenital hypothroidism (CH) in newborns and changes after levothyroxine substitution therapy, measured with tissue Doppler echocardiography and conventional echocardiography. METHODS: The study included 30 neonates with CH and 34 healthy controls. Echocardiography were performed at baseline, 2nd week and 6th month of therapy...
March 30, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28356101/erratum-to-reference-intervals-for-thyroid-stimulating-hormone-and-free-thyroxine-derived-from-neonates-undergoing-routine-screening-for-congenital-hypothyroidism-at-a-university-teaching-hospital-in-nairobi-kenya-a-cross-sectional-study
#17
Geoffrey Omuse, Ali Kassim, Francis Kiigu, Syeda Ra'ana Hussain, Mary Limbe
No abstract text is available yet for this article.
March 29, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28350538/possible-effects-of-neonatal-vitamin-b12-status-on-tsh-screening-program-a-cross-sectional-study-from-turkey
#18
Zerrin Onal, Seda Balkaya, Atilla Ersen, Neval Mutlu, Hasan Onal, Erdal Adal
BACKGROUND: In this study we evaluated whether vitamin B12 deficiency affects neonatal screening (NS) for congenital hypothyroidism (CH). METHODS: A cross-sectional study conducted from 2010 to 2011. A total of 10,740 infants were born in our hospital in this period. Thyroid-stimulating hormone (TSH) was tested for NS and neonates with abnormal screening results (TSH>20 mIU/L) were re-examined. Two hundred and twenty-nine re-called subjects (re-call rate 2.3%) were compared to 77 randomly selected newborns with normal TSH screening among these term newborns in terms of serum TSH, free T4, vitamin B12 and homocysteine status...
March 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28337809/expanded-newborn-screening-program-in-saudi-arabia-incidence-of-screened-disorders
#19
Majid Alfadhel, Ali Al Othaim, Saif Al Saif, Fuad El Mutairi, Moeenaldeen Alsayed, Zuhair Rahbeeni, Hamad Alzaidan, Mohammed Alowain, Zuhair Al-Hassnan, Mohamad Saeedi, Saeed Aljohery, Ali Alasmari, Eissa Faqeih, Mansour Alwakeel, Maher AlMashary, Sulaiman Almohameed, Mohammed Alzahrani, Abeer Migdad, Osama Y Al-Dirbashi, Mohamed Rashed, Mohamed Alamoudi, Minnie Jacob, Lujane Alahaidib, Fahd El-Badaoui, Amal Saadallah, Ayman Alsulaiman, Wafaa Eyaid, Ali Al-Odaib
AIM: To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. METHODS: A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders...
March 24, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28328531/provider-variability-in-the-initial-diagnosis-and-treatment-of-congenital-hypothyroidism
#20
Luke Cielonko, Tyler Hamby, John S Dallas, Luke Hamilton, Don P Wilson
BACKGROUND: Early diagnosis and expeditious treatment of newborns with congenital hypothyroidism (CH) is necessary to avoid mental retardation. METHODS: A survey of 44 practitioners in the southern US was conducted to better understand common practices regarding neonatal CH and the findings were compared with current guidelines in the US and Europe. RESULTS: Responses indicated some consensus that 10-15 μg of thyroid hormone/kg/day was the appropriate dosage...
March 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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