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congenital hypothyroidism consequences

Laura Calzà, Vito A Baldassarro, Mercedes Fernandez, Alessandro Giuliani, Luca Lorenzini, Luciana Giardino
The role of thyroid hormone (TH) on brain development, and particularly in myelination, is well known since many decades, as testified by the severe structural and functional consequences of congenital hypothyroidism. This role during development, the consideration that the early TH supplementation restores myelination capability, and the fact the cell responsible for developmental myelination and remyelination is the same, i.e., the oligodendrocyte precursor cell (OPC), claimed the attempt to improve myelin repair in the adulthood via TH supplementation...
2018: Vitamins and Hormones
L Harder, S Dudazy-Gralla, H Müller-Fielitz, J Hjerling Leffler, B Vennström, H Heuer, J Mittag
Thyroid hormone (TH) is crucial for brain development and function. This becomes most evident in untreated congenital hypothyroidism, leading to irreversible mental retardation. Likewise, maternal hypothyroxinaemia, a lack of TH during pregnancy, is associated with neurological dysfunction in the offspring, such as autism and reduced intellectual capacity. In the brain, TH acts mainly through TH receptor α1 (TRα1). Consequently, mice heterozygous for a dominant-negative mutation in TRα1 display profound neuroanatomical abnormalities including deranged development of parvalbumin neurones...
March 2018: Journal of Neuroendocrinology
Hong Soon Kang, Dhirendra Kumar, Grace Liao, Kristin Lichti-Kaiser, Kevin Gerrish, Xiao-Hui Liao, Samuel Refetoff, Raja Jothi, Anton M Jetten
Deficiency in Krüppel-like zinc finger transcription factor GLI-similar 3 (GLIS3) in humans is associated with the development of congenital hypothyroidism. However, the functions of GLIS3 in the thyroid gland and the mechanism by which GLIS3 dysfunction causes hypothyroidism are unknown. In the current study, we demonstrate that GLIS3 acts downstream of thyroid-stimulating hormone (TSH) and TSH receptor (TSHR) and is indispensable for TSH/TSHR-mediated proliferation of thyroid follicular cells and biosynthesis of thyroid hormone...
December 1, 2017: Journal of Clinical Investigation
Christine E Cherella, Ari J Wassner
Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks posed by mild congenital hypothyroidism, highlighting the need for additional research to further define what risks these patients face and whether they are likely to benefit from treatment...
2017: International Journal of Pediatric Endocrinology
Jakub Kornacki, Jana Skrzypczak
In this review article we describe the ante- and perinatal management of fetal neck tumors. Although there are rare congenital anomalies, the clinical consequences for the fetus may be fatal and include airways obstruction, heart insufficiency, pulmonary hypoplasia and cosmetic effect. The right management allows to decrease the fetal and neonatal mortality and morbidity associated with the disease. It includes intrauterine therapy in some cases, mostly in a goitrus hypothyroidism of the fetus, but firstly, an assessment of the fetal airways patency with a subsequent, eventual Ex-Utero Intrapartum Treatment (EXIT)...
2017: Ginekologia Polska
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
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...
August 2017: Paediatric Drugs
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...
2017: Hormone Research in Pædiatrics
Federica Marelli, Silvia Carra, Giuditta Rurale, Franco Cotelli, Luca Persani
BACKGROUND: Heterozygous mutations in the thyroid hormone receptor alpha (THRA) gene cause resistance to thyroid hormone alpha (RTHα), a disease characterized by variable manifestations reminiscent of untreated congenital hypothyroidism but a raised triiodothyronine/thyroxine ratio and normal thyrotropin levels. It was recently described that zebrafish embryos expressing a dominant negative (DN) form of thraa recapitulate the key features of RTHα, and that zebrafish and human receptors are functionally interchangeable...
February 2017: Thyroid: Official Journal of the American Thyroid Association
Veronica Aiceles, Flavia Gombar, Cristiane da Fonte Ramos
The goal of this study was to evaluate the influence of hypothyroidism induced by MMI, during gestation (G) or gestation plus lactation (GL) on testis and its relation with leptin in rats. Six to eight pups were killed at 90 days of age. For statistical analysis One-way ANOVA followed by the Holm-Sìdak post hoc test was used. Hypothyroidism resulted in a significant reduction in LH, FSH and testosterone and an increase in leptin serum levels (p < 0.04). There was a significant decrease in StAR, AR, FSHR, LHR, pSTAT3 and SOCS3 (p < 0...
January 5, 2017: Molecular and Cellular Endocrinology
I Khan, O E Okosieme, J H Lazarus
Thyroid dysfunction is common in pregnancy and has adverse fetal and maternal health consequences. A number of challenges in the management of gestational thyroid dysfunction remain unresolved including uncertainties in optimal thresholds for correction of hypothyroidism and strategies for pharmacological management of hyperthyroidism. Areas covered: We addressed key challenges and areas of uncertainty in the management of thyroid dysfunction in pregnancy. Expert commentary: Gestational thyroid hormone reference intervals vary according to population ethnicity, iodine nutrition, and assay method and each population should derive trimester specific reference intervals for use in pregnancy...
January 2017: Expert Review of Clinical Pharmacology
Charlotte A Heinen, Monique Losekoot, Yu Sun, Peter J Watson, Louise Fairall, Sjoerd D Joustra, Nitash Zwaveling-Soonawala, Wilma Oostdijk, Erica L T van den Akker, Mariëlle Alders, Gijs W E Santen, Rick R van Rijn, Wouter A Dreschler, Olga V Surovtseva, Nienke R Biermasz, Raoul C Hennekam, Jan M Wit, John W R Schwabe, Anita Boelen, Eric Fliers, A S Paul van Trotsenburg
CONTEXT: Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained. We identified a missense mutation in the transducin β-like protein 1, X-linked (TBL1X) gene in three relatives diagnosed with isolated CeH. TBL1X is part of the thyroid hormone receptor-corepressor complex. OBJECTIVE: The objectives of the study were the identification of TBL1X mutations in patients with unexplained isolated CeH, Sanger sequencing of relatives of affected individuals, and clinical and biochemical characterization; in vitro investigation of functional consequences of mutations; and mRNA expression in, and immunostaining of, human hypothalami and pituitary glands...
December 2016: Journal of Clinical Endocrinology and Metabolism
Jacoba J Bongers-Schokking, Wilma C M Resing, Wilma Oostdijk, Yolanda B de Rijke, Sabine M P F de Muinck Keizer-Schrama
BACKGROUND: In congenital hypothyroidism (CH), age-specific reference ranges (asRR) for fT4 and thyrotropine (TSH) are usually used to signal over/under-treatment. We compared the consequences of individual fT4 steady-state concentrations (SSC's) and asRR regarding over-treatment signaling and intelligence quotient at 11 y (IQ11) and the effect of early over-treatment with high L-T4 dosages on IQ11. METHODS: Sixty-one patients (27 severe, 34 mild CH) were psychologically tested at 1...
December 2016: Pediatric Research
Gunnar Kleinau, Laura Kalveram, Josef Köhrle, Mariusz Szkudlinski, Lutz Schomburg, Heike Biebermann, Annette Grüters-Kieslich
Naturally occurring thyrotropin (TSH) mutations are rare, which is also the case for the homologous heterodimeric glycoprotein hormones (GPHs) follitropin (FSH), lutropin (LH), and choriogonadotropin (CG). Patients with TSH-inactivating mutations present with central congenital hypothyroidism. Here, we summarize insights into the most frequent loss-of-function β-subunit of TSH mutation C105Vfs114X, which is associated with isolated TSH deficiency. This review will address the following question. What is currently known on the molecular background of this TSH variant on a protein level? It has not yet been clarified how C105Vfs114X causes early symptoms in affected patients, which are comparably severe to those observed in newborns lacking any functional thyroid tissue (athyreosis)...
September 2016: Molecular Endocrinology
Veronica Aiceles, Cristiane da Fonte Ramos
Hypothyroidism is a condition in which the serum levels of thyroid hormones are below that necessary to carry out physiological functions in the body. Hypothyroidism is related to obesity as an increase in body weight gain is seen in hypothyroid patients. Moreover, an inverse correlation between free thyroxine values and body mass index has been reported. Leptin, a polypeptide hormone produced by adipocytes, was originally thought to be an antiobesity hormone due its anorexic effects on hypothalamic appetite regulation...
January 2016: Hormone Molecular Biology and Clinical Investigation
Mohemmed Ajij, Shambhavi, Bijoy Patra, Ankur Singh, Seema Kapoor
BACKGROUND: Pendred syndrome is a rare autosomal recessive condition, characterized by functional impairment of thyroid gland and sensorineural hearing loss. The syndrome presents in patients with homozygous or compound heterozygous mutation. The presentation in the form of neck mass in a newborn is rare. CASE CHARACTERISTICS: A 1 month old baby presented to us with neck mass, which was found to be an enlarged thyroid gland. Thyroid function tests were consistent with hypothyroidism...
August 2016: Journal of Tropical Pediatrics
José Ferreira Gomes Neto, Edward Araujo Júnior, Jesus Irajacy Fernandes Costa, Daniel Aguiar Dias, Lindemberg Barbosa Aguiar, Francisco Herlânio Costa Carvalho
Congenital goiter is considered a rare occurrence, and may be related to hypothyroidism, hyperthyroidism, or euthyroidism. In this report, we describe a case of fetal goiter identified in the 34th gestational week in a 41-year-old secundigravida with normal thyroid functions. A conservative approach was followed; the fetal goiter was monitored via ultrasound, which suggested this was a case of hyperthyroidism. After the birth, tests indicated that the newborn was euthyroidic. Consequently, a more detailed study using non-invasive procedures was deemed necessary to discover the precise cause of the fetal goiter during the gestational period...
January 2016: Obstetrics & Gynecology Science
Fiorella S Belforte, Cintia E Citterio, Graciela Testa, María Cecilia Olcese, Gabriela Sobrero, Mirta B Miras, Héctor M Targovnik, Carina M Rivolta
Iodide Organification defects (IOD) represent 10% of cases of congenital hypothyroidism (CH) being the main genes affected that of TPO (thyroid peroxidase) and DUOX2 (dual oxidasa 2). From a patient with clinical and biochemical criteria suggestive with CH associated with IOD, TPO and DUOX2 genes were analyzed by means of PCR-Single Strand Conformation Polymorphism analysis and sequencing. A novel heterozygous compound to the mutations c.2335-1G>C (paternal mutation, intron 17) and c.3264_3267delCAGC (maternal mutation, exon 24) was identified in the DUOX2 gene...
January 5, 2016: Molecular and Cellular Endocrinology
Esther Schrapers, Laura C Tegtmeyer, Gunter Simic-Schleicher, Volker Debus, Janine Reunert, Sebastian Balbach, Karin Klingel, Ingrid Du Chesne, Anja Seelhöfer, Manfred Fobker, Thorsten Marquardt, Stephan Rust
Phosphoglucomutase 1 deficiency has recently been reported as a novel disease that belongs to two different classes of metabolic disorders, congenital disorders of glycosylation (CDG) and glycogen storage diseases.This paper focuses on previously reported siblings with short stature, hypothyroidism, increased transaminases, and, in one of them, dilated cardiomyopathy (DCM). An intronic point mutation in the PGM1-gene (c.1145-222 G>T) leads to a complex alternative splicing pattern and to almost complete absence of PGM1 activity...
2016: JIMD Reports
Stuart K Shapira, Cynthia F Hinton, Patrice K Held, Elizabeth Jones, W Harry Hannon, Jelili Ojodu
Routine second screening of most newborns at 8-14 days of life for a panel of newborn conditions occurs in 12 U.S. states, while newborns in the other states typically undergo only a single routine newborn screen. The study objective was to evaluate screening consequences for primary congenital hypothyroidism (CH) in one- and two-screen states according to laboratory practices and medical or biochemical characteristics of screen-positive cases. Individual-level medical and biochemical data were retrospectively collected and analyzed for 2251 primary CH cases in one-screen (CA, WI) and two-screen (AL, DE, MD, OR, TX) states...
November 2015: Molecular Genetics and Metabolism
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