Molecular genetic defects in congenital hypothyroidism

Grüters, Annette; Krude, Heiko; Biebermann, Heike

doi:10.1530/eje.0.151u039

Cited by 58 publications

(33 citation statements)

References 36 publications

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“…62 In dyshormonogenesis, concentrations of serum Tg can be low if there is a defect in Tg synthesis or intracellular processing or high if the defect is in other pathways. In an early study of congenital hypothyroidism, no significant differences in serum Tg were found between neonates with thyroid aplasia confirmed by thyroid scintigraphy (range ¼ 15-290 mg/L) and a control group of euthyroid neonates (range ¼ 34-700 mg/L).…”

Section: Other Indications For the Measurement Of Serum Tgmentioning

confidence: 99%

Can we interpret serum thyroglobulin results?

Clark

Franklyn

2012

Ann Clin Biochem

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Thyroglobulin (Tg) is a tumour marker for differentiated thyroid cancer. Interpretation requires a knowledge of the current thyrotropin (TSH) concentration as secretion is TSH-dependent. While a raised serum Tg may be indicative of residual or recurrent thyroid cancer, trauma to the thyroid (e.g. surgical, biopsy or due to radioiodine treatment) also causes an increase. Tg may be measured when TSH is suppressed and also following recombinant TSH (rhTSH) stimulation. Interpretation of results in pregnancy and in children is discussed. Assay bias and interference by endogenous Tg antibodies (Abs) are the main confounders in the interpretation of results. Although there is an international standard for Tg, there are large differences in results and yet there are few assay-specific clinical decision limits. Patients should therefore be monitored with the same assay. Endogenous TgAbs may cause false-negative interference in immunometric assays and may cause false-positive results in radioimmunoassay. Although the measurement of TgAbs has been advocated for predicting interference, it is now clear that interference can still occur when TgAbs have not been detected, the effect being TgAb-assay-specific. Approaches to identifying those samples where there may be interference are discussed. The laboratory should have a protocol for the investigation of possible interferences and data on the bias of the Tg assay that they use. An appreciation of the clinical uses of the service is required as an understanding by endocrinologists, oncologists and endocrine surgeons of the analytical limitations of the service.

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Section: Other Indications For the Measurement Of Serum Tgmentioning

confidence: 99%

Can we interpret serum thyroglobulin results?

Clark

Franklyn

2012

Ann Clin Biochem

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“…Murine Nkx2.5 is expressed in early heart progenitor cells, as well as in thyroid, tongue, stomach and spleen (3,6,7). The NKX2.5 transcription factor is known to be essential for normal heart morphogenesis, myogenesis and function (8,9).…”

Section: Introductionmentioning

confidence: 99%

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

Cerqueira

Ramos

Strappa

et al. 2015

Arch. Endocrinol. Metab.

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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 function tests, scintigraphy, ultrasound and echocardiography. DNA was extracted and NKX2.5 gene coding region was amplified by polymerase chain reaction (PCR) and sequenced. Results: CHD were found in 8.1% of patients with TD. The mutation screening revealed two known polymorphisms in patients with isolated TD or TD associated with CHD. None of them are predicted to result in codon change in conserved domain. The c.63A>G polymorphism was detected in 54/86 patients (49 with isolated TD and 5 with TD combined with CHD). There was a significant association of c.63A>G polymorphism with hypoplasia (p < 0.036). The c.541G>A polymorphism was observed in only one patient with isolated thyroid hypoplasia. Conclusion: NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia. Arch Endocrinol Metab. 2015;59(6):562-7

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“…In the present study, we review interspecies, racial, geographical, and interindividual variation in the thyroid hormone pathways in humans and other animals. The present review focuses on natural and subclinical variation in thyroid hormone physiology and will not cover the genetic basis for congenital hypothyroidism [1,2,3,4,5], congenital hyperthyroidism [6,7], autoimmune diseases [8], and thyroid cancers [9], for which a number of good review articles are already available.…”

Section: Introductionmentioning

confidence: 99%