The Key Role of Newborn Thyroid Scintigraphy With Isotopic Iodide (123I) in Defining and Managing Congenital Hypothyroidism

PEDIATRICS ◽  
2004 ◽  
Vol 114 (6) ◽  
pp. e683-e688 ◽  
Author(s):  
E. J. Schoen ◽  
W. Clapp ◽  
T. T. To ◽  
B. H. Fireman
Keyword(s):  
Congenital Hypothyroidism ◽  
Thyroid Scintigraphy

scholarly journals Thyroid scintigraphy differentiates subtypes of congenital hypothyroidism

2019 ◽  
Vol 106 (1) ◽  
pp. 77-79 ◽  
Author(s):  
Chris Worth ◽  
Beverly Hird ◽  
Lesley Tetlow ◽  
Neville Wright ◽  
Leena Patel ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Thyroid Stimulating Hormone ◽  
Dried Blood Spot ◽  
Thyroid Scintigraphy ◽  
Tertiary Centre ◽  
Blood Spot ◽  
Expected Proportion

IntroductionUK screening for congenital hypothyroidism (CH) is based on dried blood spot Thyroid Stimulating Hormone (TSH). Scintigraphy may identify CH subtypes classified as dysplasia, gland in situ (GIS) and ectopia, but is not performed in all centres. We retrospectively investigated the role of scintigraphy to identify CH subtypes in a single tertiary centre cohort.MethodsBabies who screened positive for CH between 2007 and 2017 were studied (n=418 of 534 783). Scintigraphy outcomes were correlated with TSH and levothyroxine dose. GIS patients were analysed for 3-year outcomes.Results303 patients started levothyroxine. Scintigraphy demonstrated three subtypes: GIS (n=139, 46%) ectopia (n=84, 28%) and dysplasia (n=80, 26%). Three-year follow up demonstrated permanence in 54% of 37 GIS cases.DiscussionThyroid scintigraphy differentiates subtypes of CH and suggests a higher than expected proportion of patients with GIS and ectopia. CH is permanent in half of those with GIS.

Congenital hypothyroidism in a Turkish family: the role of immunoglobulins blocking the trophic effects of TSH and maternal-foetal relationship

1986 ◽  
Vol 111 (1) ◽  
pp. 44-53 ◽  
Author(s):  
R. D. van der Gaag ◽  
H. Frisch ◽  
M. Weissel ◽  
G. Wick ◽  
H. A. Drexhage
Keyword(s):  
Congenital Hypothyroidism ◽  
Thyroid Autoimmunity ◽  
Thyroid Tissue ◽  
Mild Form ◽  
Juvenile Form ◽  
Turkish Family ◽  
Blocking Antibodies ◽  
Thyroid Microsomal Antibodies ◽  
Trophic Action

Abstract. A Turkish family with frequent intermarriages is described, in which two siblings were born with persistent forms of congenital hypothyroidism, in the elder child concomitant with absent radioactive thyroid imaging. The mother was clinically euthyroid throughout the period of observation, but showed in addition to thyroid microsomal antibodies, high levels of immunoglobulins blocking the trophic action of TSH. These maternal growth blocking antibodies were transiently present in the youngest of the siblings (from birth to 2 months of age). She had a relatively mild form of congenital hypothyroidism (T3: 33 μg/100 ml; T4: 3.9 μg/100 ml). The older sibling, with proven non-functioning thyroid tissue (negative thyroidscan, T4: 0.4 μg/100 ml) produced the growth-blocking immunoglobulins herself and may thus represent a juvenile form of thyroid autoimmunity with a very early onset. An aunt and uncle of the children, both hypothyroid since birth, were at the age of 19 and 18 years weakly positive for growth blocking immunoglobulins. This study indicates that familial forms of congenital hypothyroidism are probably complex and may be brought about by maternal to foetal passage of thyroid reactive autoantibodies, but also by the inheritance of a trait for thyroid autoimmunity. In some cases these two mechanisms might act in conjunction.

scholarly journals Role of Tc-99m pertechnetate thyroid scintigraphy in evaluation of lingual and midline neck swellings

2018 ◽  
Vol 6 (3) ◽  
pp. 842
Author(s):  
Bhairavi Mohit Bhatt ◽  
Shwetal Uday Pawar ◽  
Anuja Anand ◽  
Mangala Kedar Ghorpade ◽  
Suruchi Suresh Shetye
Keyword(s):  
Thyroid Tissue ◽  
Thyroglossal Duct Cyst ◽  
Neck Swelling ◽  
Thyroid Scintigraphy ◽  
Thyroglossal Cyst ◽  
Duct Cyst ◽  
Thyroglossal Duct ◽  
Technetium 99M ◽  
Ectopic Tissue

Background: The ectopic thyroid tissue in thyroglossal cyst or suprahyoid swelling is one of most important differential to be diagnosed. The purpose of this study was to find out role of Technetium-99m Pertechnetate Thyroid Scintigraphy (TS) to detect functioning thyroid tissue in ectopic locations presenting as midline neck swelling.Methods: A retrospective observational study was done where 26 subjects presenting with midline neck swelling were included. These subjects were injected with 1-5MBq/kg of Technetium-99m Pertechnetate to perform the TS. The uptake of tracer in the midline neck swelling and in other ectopic location was assessed. The comparison with Ultrasound (USG) was also done.Results: 12 (46.15%) subjects presented with infra hyoid swelling and rest 14 (53.85%) presented with supra hyoid and submental swelling. 33.3% subjects presenting with thyroglossal duct cyst showed functioning thyroid tissue. Also 4 subjects showed dual functioning ectopic tissue. USG an TS showed concordant results for detecting thyroid tissue in ectopic location (p=0.68). However, TS performed better to detect ectopically located thyroid tissue (p=0.0086).Conclusions: USG and TS showed similar results to detect thyroid tissue in normal location. However, TS is better to detect topically located thyroid tissue. TS adds information of functioning thyroid tissue during workup of midline neck swelling. 

Evaluation of the role of thyroid scintigraphy in the differential diagnosis of thyrotoxicosis

2020 ◽  
Author(s):  
Carolina M. Perdomo ◽  
Marta García‐Goñi ◽  
Lidia Sancho ◽  
José Paricio ◽  
María D. Lozano ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Thyroid Scintigraphy

scholarly journals A Locus on Mouse Chromosome 2 Is Involved in Susceptibility to Congenital Hypothyroidism and Contains an Essential Gene Expressed in Thyroid

Endocrinology ◽  
2010 ◽  
Vol 151 (4) ◽  
pp. 1948-1958 ◽  
Author(s):  
Elena Amendola ◽  
Remo Sanges ◽  
Antonella Galvan ◽  
Nina Dathan ◽  
Giacomo Manenti ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Chromosomal Region ◽  
Essential Gene ◽  
Chromosome 2 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genes Encoding ◽  
Mouse Chromosome 2 ◽  
Essential Function

We report here the mapping of a chromosomal region responsible for strain-specific development of congenital hypothyroidism in mice heterozygous for null mutations in genes encoding Nkx2-1/Titf1 and Pax8. The two strains showing a differential predisposition to congenital hypothyroidism contain several single-nucleotide polymorphisms in this locus, one of which leads to a nonsynonymous amino acid change in a highly conserved region of Dnajc17, a member of the type III heat-shock protein-40 (Hsp40) family. We demonstrate that Dnajc17 is highly expressed in the thyroid bud and had an essential function in development, suggesting an important role of this protein in organogenesis and/or function of the thyroid gland.

scholarly journals Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program

2012 ◽  
Vol 28 (9) ◽  
pp. 1623-1631 ◽  
Author(s):  
Judy Botler ◽  
Luiz Antonio Bastos Camacho ◽  
Marly Marques da Cruz
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Ethnic Composition ◽  
Health Issues ◽  
Newborn Screening Program ◽  
Cell Disease ◽  
Laboratory Methods ◽  
Detection Coverage

In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B) with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007) was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427) and B (1:16,522) might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively). This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.

Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism

2017 ◽  
Vol 30 (8) ◽  
Author(s):  
Mehri Khatami ◽  
Mohammad Mehdi Heidari ◽  
Fatemeh Tabesh ◽  
Mahtab Ordooei ◽  
Zohreh Salehifar
Keyword(s):  
Congenital Hypothyroidism ◽  
Heart Defects ◽  
Primary Hypothyroidism ◽  
Mutational Screening ◽  
Clinical Presentations ◽  
Cardiovascular Defects ◽  
Transcription Activators ◽  
And Migration ◽  
Control Study

AbstractBackground:The embryonic development of the thyroid gland is regulated by the expression of several candidate genes which are related to congenital hypothyroidism. These genes include the numerous critical thyroid transcription factors such as NKX2.1, NKX2.5, FOXE1, and PAX8. The molecular analysis of these loci will be essential to the explanation of the participation of these transcription activators in the etiology of hypothyroidism. Among them, the role of NKX2.5 is important during the early thyroid morphogenesis and in controlling thyroidal cell differentiation and migration. Importantly,Methods:A case-control study was conducted in 65 unrelated patients, diagnosed with primary congenital hypothyroidism and all of them were diagnosed according to the clinical presentations of thyroid hypoplasia and without cardiovascular defects. Mutational screening of the entireResults:We identified two known variations 73C>T (R25C) and 63A>G (E21E) in patients with thyroid hypothyroidism. Both of them are located in conserved region of the gene and previously reported in cases with thyroid dysgenesis and congenital heart defects. There was a significance association between 63A>G variation with primary hypothyroidism (p=0.003).Conclusions:These SNPs are probably related to thyroid hypoplasia because the allele frequency of the 63A>G polymorphism was significantly different in patients and controls and also R25C variation not observed in healthy cases.

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