Results 151 to 160 of about 208,465 (197)

Two Puzzling Cases of Thyroid Dysgenesis

Hormone Research in Paediatrics, 2009
<i>Background:</i> In the last couple of years, different genes that play major roles in embryonic thyroid development have been identified. Several mutations, e.g., <i>NKX2.1</i>, <i>FOXE1</i> and <i>PAX8</i>, were identified in patients with congenital hypothyroidism due to thyroid dysgenesis.
P, Kuehnen, A, Grueters, H, Krude
openaire   +2 more sources

Familial Forms of Thyroid Dysgenesis

2007
In many instances, the pathophysiology of thyroid dysgenesis (TD) remains as yet unclear and until relatively recently the disorder was usually regarded as occurring in a sporadic manner. However, over the past few years, a small but significant proportion of familial cases has been identified (2%) through the study of subjects with congenital ...
Mireille, Castanet, Michel, Polak, Juliane, Léger   +2 more
openaire   +2 more sources

Thyroid dysgenesis and the dysplasia hypothesis in tuberous sclerosis

American Journal of Medical Genetics, 1993
AbstractThyroid dysfunction is rare in tuberous sclerosis, although papillary adenomas (hamartomas) of the thyroid gland have been reported in a few autopsy cases. We describe a child with tuberous sclrosis and primary congenital hypothyroidism secondary to a dysgenetic thyroid gland. To our knowledge, this association has not been reported previously.
A, Bereket, T A, Wilson
openaire   +2 more sources

Studies on a Case of Cretinism Due to Thyroidal Dysgenesis

The Journal of Clinical Endocrinology & Metabolism, 1963
The authors describe a case of myxedema due to dysgenesis of the thyroid gland, with remaining sublingual thyroid tissue showing a significant I131 uptake. No abnormal iodoproteins were identified in the serum by electrophoretic studies. An incomplete response to desiccated thyroid and an excellent response to l-triiodothyronine were observed.
N, LEON, B L, WAJCHENBERG, R R, PIERONI, A, de CINTRA   +3 more
openaire   +2 more sources

Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis.

Journal of endocrinological investigation, 2011
Congenital hypothyroidism (CH) is a common endocrine disorder with an incidence of 1:3000- 4000 newborns. In 80-85% of cases, CH is caused by defects in thyroid organogenesis, resulting in absent, ectopically located, and/or severely reduced gland, all conditions indicated as "thyroid dysgenesis" (TD).
FERRARA, ALFONSO MASSIMILIANO, ROSSI, GIUSEPPINA, ZAMPELLA, EMILIA, S. Di Candia, V. Pagliara, NETTORE, IMMACOLATA CRISTINA, CAPALBO, DONATELLA, L. De Sanctis, M. Baserga, SALERNO, MARIACAROLINA, FENZI, GIANFRANCO, MACCHIA, PAOLO EMIDIO   +11 more
openaire   +4 more sources

Neuropsychological study in treated thyroid dysgenesis

Pediatric Research, 1978
60 patients aged 3-14 yrs, with hypothyroidism (HY) and athyreosis or ectopic thyroid gland, were examined for neuropsychological defects. They were selected on the basis of the following criteria: definite diagnosis of HY, absence of neonatal anoxia and of any factor predisposing to mental retardation, assessment of bone age (BA) at diagnosis ...
R WOLTER, F VERSTRAETEN, M VANDERSCHUEREN-LODEWEYCKX, P DE COCK, M CRAEN, P MALVAUX   +5 more
openaire   +1 more source

Thyroid dysgenesis in monozygotic twins: Variants identified by scintigraphy

European Journal of Nuclear Medicine, 1985
The unusual occurrence of neonatal hypothyroidism in monozygotic twins is reported. Scintigraphy demonstrated that permanent hypothyroidism in one resulted from an ectopic suprahyoid thyroid, while in the other, the transient hypothyroid state was associated with thyroid hemiagenesis.
R, McLean, N, Howard, I P, Murray
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DYSGENESIS OF THE THYROID GLAND AS A CAUSE OF CRETINISM AND JUVENILE MYXEDEMA

The Journal of Clinical Endocrinology & Metabolism, 1955
IN 1888 the Committee appointed by the Clinical Society of London (1) to study myxedema concluded that the disease described under the name of myxedema, as observed in adults, was practically the same disease as that named sporadic cretinism when affecting children.
E M, McGIRR, J H, HUTCHISON
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Circulating thyroid hormones in thyroid dysgenesis

1983
info:eu-repo/semantics ...
Verelst, Jean, Delange, François, Bourdoux, Pierre, Vu, C.Q., Ermans, André Marie   +4 more
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Screening of Parents and Siblings of Patients with Thyroid Dysgenesis by Thyroid Function Tests and Ultrasound

Hormone Research in Paediatrics, 2008
<i>Aims:</i> To investigate the frequency of thyroid dysgenesis (TD) in first-degree relatives of TD cases. <i>Methods:</i> 244 first-degree relatives of 82 TD cases were screened by thyroid ultrasound (USG), T₄, fT₄ and TSH.
Elif, Karakoc, Serap, Turan, Ihsan, Akpinar, Pinar, Isguven, Erdal, Adal, Goncagül, Haklar, Fuat, Dede, Abdullah, Bereket   +7 more
openaire   +3 more sources