Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital hypothyroidism (CH) is the commonest treatable cause of mental retardation. The prevelance is 1/3000 - 1/4000 live births worldwide. The importance of CH is that, the longer the diagnosis of CH is delayed, the higher the risk of mental retardation and neurologic sequale; such as poor motor coordination, ataxia, spastic diplegia, muscular hypotonia, strabismus, learning disability and diminished attention span. The most common cause of permenant CH is thyroid dysgenesis (85-90%) in which the transcription factors TTF1,TTF2 and PAX8 would appear to be obvious candidate genes in the aetiology. Especially cardiac defects and some other birth defects are described in patients with CH. Inborn errors of thyroid hormonogenesis are responsible for 10-15% of CH cases and usually have autosomal recessive inheritance, consistent with a single gene mutation. Transient CH is very common in prematures with an estimate of 10% of CH babies identified on newborn screening, or 1 in 40,000 neonates. CH neonates are usually symptom-free and the most encountered symptoms are prolonged jaundice, large fontanelles and umbilical hernia. In general, the extent of clinical findings depends on the cause, severity and duration of hypothyroidism. An elevated TSH>20 microm Iu/L and a decreased concentration of T4 confirms the diagnosis of CH. Infants with permanant abnormalities of thyroid function mostly have a serum TSH concentration > 50 microm Iu/L. Ultrasonography, thyroid scintigraphy, bone x ray of the knee and serum thyroglobulin concentration are the other essentials after diagnosis to clarify the status of the thyroid and the severity of hypothyroidism. The higher doses of 10- 15 microm g/kg/day and the commencement of treatment before 2 weeks gave rise to better long term outcome of CH patients. In the follow up of the patients noncompliance is the most important problem and serum freeT4 or T4 and TSH should be obtained at each visit to adjust the doses of L-thyroxine. Still a small number of patients with severe hypothyroidism in utero or reflected by clinical signs and symptoms extremely low T4 levels and delayed bone age may have intellectual deficits despite normal intelligence.
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PMID:Congenital hypothyroidism clinical aspects and late consequences. 1644 57

Patients with acquired adult-onset strabismus mainly present with binocular diplopia. Although cranial nerve palsies are reportedly the most common cause of binocular diplopia in adults, thyroid disease can also cause diplopia. In patients with thyroid-associated ophthalmopathy, upper lid retraction and proptosis are the most common initial findings, but diplopia could be the first manifestation. So far, there has been little information on the diagnostic value of thyroid autoantibodies in patients with strabismus. Therefore, we examined adults with acquired binocular diplopia from 2008 to 2016 and evaluated the presence of thyroid autoantibodies and the relationship between thyroid autoantibody status and clinical characteristics in adults with acquired binocular diplopia. Thyroid autoantibody tests were performed for all patients, unless other causes of diplopia were identified. Fifty one (39%) of 132 patients were positive for thyroid autoantibodies. In the thyroid autoantibody-positive (TAb+) group, microsomal autoantibodies, thyroid-stimulating hormone receptor antibodies, thyroglobulin antibodies, and thyroid-stimulating antibodies were observed in 30, 27, 12, and 7 patients, respectively. The vertical deviation and grade of duction limitation were greater in the TAb+ group. The presence of ocular torsion was 15.5% and 39.5% in the TAb- and TAb+ groups, respectively. Thyroid autoantibody evaluation may be helpful in adults with idiopathic acquired binocular diplopia.
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PMID:Thyroid autoantibodies in adults with acquired binocular diplopia of unknown origin. 3221 13