Results 11 to 20 of about 208,465 (197)

RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS

Euromediterranean Biomedical Journal, 2018
Refetoff Syndrome is a rare disorder characterized by resistance to thyroid hormone (RTH). The coexistence of RTH and thyroid dysgenesis is a rare event. Up to now, only four cases of ectopic gland and RTH have been reported.
Maria Scavone
doaj   +2 more sources

Molecular defects in thyroid dysgenesis [PDF]

Clinical Genetics, 2019
AbstractCongenital hypothyroidism (CH) is a neonatal endocrine disorder that might occur as itself or be associated to congenital extra‐thyroidal defects. About 85% of affected subjects experience thyroid dysgenesis (TD), characterized by defect in thyroid gland development. In vivo experiments on null mice paved the way for the identification of genes
Mio C., Grani G., Durante C., Damante G.
openaire   +4 more sources

Study of molecular basis of thyroid dysgenesis

Клиническая и экспериментальная тиреоидология, 2018
Congenital hypothyroidism is a heterogeneous group of diseases, which is manifested by loss of function of the thyroid gland that affects infants from birth. 8085% of cases are due to different types of thyroid dysgenesis.
Nina A. Makretskaya, Olga B. Bezlepkina, Anna A. Kolodkina, Alexey V. Kiyaev, Evgeny V. Vasilyev, Vasily M. Petrov, Olga A. Chikulaeva, Oleg A. Malievsky, Ivan I. Dedov, Anatoliy N. Tyulpakov   +9 more
doaj   +3 more sources

Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy [PDF]

European Journal of Endocrinology, 2012
ObjectivesWe aimed to investigate the reliability of thyroid ultrasonography (US) and scintigraphy in determining the type of thyroid dysgenesis (TD).MethodsThe study included 82 children (8.0±5.6 years) with a diagnosis of TD by thyroid scintigraphy with 99mTc and/or US. The patients were re-evaluated 6.0±5.1 years after the diagnosis.
Elif, Karakoc-Aydiner, Serap, Turan, Ihsan, Akpinar, Fuat, Dede, Pinar, Isguven, Erdal, Adal, Tulay, Guran, Teoman, Akcay, Abdullah, Bereket   +8 more
core   +5 more sources

A mouse model for hereditary thyroid dysgenesis and cleft palate

Nature Genetics, 1998
Alteration of thyroid gland morphogenesis (thyroid dysgenesis) is a frequent human malformation. Among the one in three to four thousand newborns in which congenital hypothyroidism is detected, 80% have either an ectopic, small and sublingual thyroid, or have no thyroid tissue.
De Felice M., Ovitt C., Biffali E., Rodriguez-Mallon A., Arra C., Anastassiadis K., Macchia P. E., Mattei M. -G., Mariano A., Scholer H., Macchia V., Di Lauro R.   +11 more
openaire   +5 more sources

The molecular causes of thyroid dysgenesis: a systematic review.

Journal of endocrinological investigation, 2013
Congenital hypothyroidism (CH) is a frequent disease occurring with an incidence of about 1/2500 newborns/year. In 80-85% of the cases CH is caused by alterations in thyroid morphogenesis, generally indicated by the term "thyroid dysgenesis" (TD). TD is generally a sporadic disease, but in about 5% of the cases a genetic origin has been demonstrated ...
NETTORE, IMMACOLATA CRISTINA, Cacace V, DE FUSCO, CAROLINA, COLAO, ANNAMARIA, MACCHIA, PAOLO EMIDIO   +4 more
openaire   +5 more sources

NEUROPSYCHOLOGICAL STUDY IN TREATED THYROID DYSGENESIS

Acta Paediatrica, 1979
Abstract. Wolter, R., Noël, P., De Cock, P., Craen, M., Ernould, Ch., Malvaux, P., Verstraeten, F., Simons, J., Mertens, S., Van Broeck, N. and Vanderschueren‐Lodeweyckx, M. (Departments of Paediatrics, Universities of Brussels, Leuven, Ghent, Liège and Louvain, Belgium). Neuropsychological study in treated thyroid dysgenesis.
R, Wolter, P, Noël, P, De Cock, M, Craen, C, Ernould, P, Malvaux, F, Verstaeten, J, Simons, S, Mertens, N, Van Broeck, M, Vanderschueren-Lodeweyckx   +10 more
core   +5 more sources

Possible Non-Mendelian Mechanisms of Thyroid Dysgenesis

, 2007
Most research on the molecular mechanisms of thyroid dysgenesis over the past decade has focussed on the Mendelian mechanisms that may account for the few (5%) cases in which there is an affected relative. This chapter first reviews methodological issues in the imaging techniques used to classify thyroid dysgenesis into its various forms (ectopic ...
Deladoëy, Johnny, Vassart, Gilbert, Van Vliet, G.   +2 more
openaire   +4 more sources

Mechanisms of Thyroid Development and Dysgenesis

, 2013
Thyroid dysgenesis is the most common cause of congenital hypothyroidism that affects 1 in 3000 newborns. Although a number of pathogenetic mutations in thyroid developmental genes have been identified, the molecular mechanism of disease is unknown in ...
Mikael Nilsson, Henrik Fagman
openaire   +2 more sources

The c.63A>G polymorphism in the NKX2.5 gene is associated with thyroid hypoplasia in children with thyroid dysgenesis

Archives of Endocrinology and Metabolism, 2015
Objective To search for genetic alteration in NKX2.5 gene in patients presenting both congenital heart disease (CHD) and TD. Subjects and methods Individual phenotypes were carefully analyzed in 86 children with thyroid dysgenesis (TD) using thyroid ...
Taise Lima de Oliveira Cerqueira, Yanne Ramos, Giorgia Strappa, Daniel San Martin, Mariana Jesus, Jailciele Gonzaga, Paulo Ferreira, Anabel Costa, Vladimir Fernandes, Tatiana Amorim, Ana Marice Ladeia, Helton Ramos   +11 more
doaj   +2 more sources