Serum thyroglobulin and thyroid ultrasound studies in infants with congenital hypothyroidism

1985 ◽  
Vol 106 (3) ◽  
pp. 451-453 ◽  
Author(s):  
F. Dammacco ◽  
A. Dammacco ◽  
T. Cavallo ◽  
S. Sansonna ◽  
N. Bafundi ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Thyroid Ultrasound ◽  
Serum Thyroglobulin ◽  
Ultrasound Studies

Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism

2021 ◽  
pp. 1-8
Author(s):  
Niamh McGrath ◽  
Colin Patrick Hawkes ◽  
Stephanie Ryan ◽  
Philip Mayne ◽  
Nuala Murphy
Keyword(s):  
Thyroid Gland ◽  
Congenital Hypothyroidism ◽  
Thyroid Tissue ◽  
Thyroid Stimulating Hormone ◽  
Thyroid Ultrasound ◽  
Free T4 ◽  
Median Serum ◽  
Thyroid Glands ◽  
Rule Out

Scintigraphy using technetium-99m (<sup>99m</sup>Tc) is the gold standard for imaging the thyroid gland in infants with congenital hypothyroidism (CHT) and is the most reliable method of diagnosing an ectopic thyroid gland. One of the limitations of scintigraphy is the possibility that no uptake is detected despite the presence of thyroid tissue, leading to the spurious diagnosis of athyreosis. Thyroid ultrasound is a useful adjunct to detect thyroid tissue in the absence of <sup>99m</sup>Tc uptake. <b><i>Aims:</i></b> We aimed to describe the incidence of sonographically detectable in situ thyroid glands in infants scintigraphically diagnosed with athyreosis using <sup>99m</sup>Tc and to describe the clinical characteristics and natural history in these infants. <b><i>Methods:</i></b> The newborn screening records of all infants diagnosed with CHT between 2007 and 2016 were reviewed. Those diagnosed with CHT and athyreosis confirmed on scintigraphy were invited to attend a thyroid ultrasound. <b><i>Results:</i></b> Of the 488 infants diagnosed with CHT during the study period, 18/73 (24.6%) infants with absent uptake on scintigraphy had thyroid tissue visualised on ultrasound (3 hypoplastic thyroid glands and 15 eutopic glands). The median serum thyroid-stimulating hormone (TSH) concentration at diagnosis was significantly lower than that in infants with confirmed athyreosis (no gland on ultrasound and no uptake on scintigraphy) (74 vs. 270 mU/L), and median free T4 concentration at diagnosis was higher (11.9 vs. 3.9 pmol/L). Six of 10 (60%) infants with no uptake on scintigraphy but a eutopic gland on ultrasound had transient CHT. <b><i>Conclusion:</i></b> Absent uptake on scintigraphy in infants with CHT does not rule out a eutopic gland, especially in infants with less elevated TSH concentrations. Clinically, adding thyroid ultrasound to the diagnostic evaluation of infants who have athyreosis on scintigraphy may avoid committing some infants with presumed athyreosis to lifelong levothyroxine treatment.

The Value of Neonatal Serum Thyroglobulin Determinations in the Follow-up of Patients with Congenital Hypothyroidism

1990 ◽  
Vol 79 (8-9) ◽  
pp. 769-775 ◽  
Author(s):  
A. ILICKI ◽  
U.-B. ERICSSON ◽  
A. LARSSON ◽  
W. MORTENSSON ◽  
J. THORELL
Keyword(s):  
Congenital Hypothyroidism ◽  
Serum Thyroglobulin

The role of serum thyroglobulin concentration and thyroid ultrasound imaging in the detection of iodide transport defects in infants

1991 ◽  
Vol 124 (4) ◽  
pp. 405-410 ◽  
Author(s):  
Thomas Vulsma ◽  
Johan A. Rammeloo ◽  
Margareth H. Gons ◽  
Jan J. M. de Vijlder
Keyword(s):  
Ultrasound Imaging ◽  
Neonatal Screening ◽  
Ultrasound Image ◽  
High Serum ◽  
Thyroid Ultrasound ◽  
Serum Thyroglobulin ◽  
Iodide Transport ◽  
Thyroid Screening ◽  
Transport Defect ◽  
Neonatal Thyroid Screening

Abstract. When discovered by neonatal screening, a thyroid dyshormonogenesis is usually not recognized as a goitre. Especially a total iodide transport defect can easily be misclassified as thyroid agenesis, since radionuclide imaging cannot visualize the thyroid. We present the only iodide transport defect ever discovered in the Netherlands, the 35th reported in the literature, and the first one found exclusively as a result of neonatal screening. We demonstrate that iodide transport defects, in common with organification and deiodinase defects, can be distinguished from thyroid dysgenesis by demonstrating a normal or enlarged thyroid ultrasound image, and especially by measuring very high serum thyroglobulin levels (above 1000 pmol/l). In the presented case, an iodide-123 saliva-to-serum ratio near unity completed the etiologic classification. Measurement of serum thyroglobulin levels, in combination with thyroid ultrasound imaging, will improve the early identification of hereditary types of congenital hypothyroidism, and especially iodide transport defects, in patients found by neonatal thyroid screening.

Contribution of thyroid ultrasound and serum calcitonin to the diagnosis of congenital hypothyroidism

1990 ◽  
Vol 13 (2) ◽  
pp. 103-109 ◽  
Author(s):  
J. P. Chanoine ◽  
V. Toppet ◽  
J. J. Body ◽  
G. Van Vliet ◽  
R. Lagasse ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Thyroid Ultrasound ◽  
Serum Calcitonin

scholarly journals Thyroglobulin Gene Mutation with Cold Nodule on Thyroid Scintigraphy

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Toshio Kahara ◽  
Noboru Igarashi ◽  
Akira Hishinuma ◽  
Yuko Nakanishi ◽  
Akio Uchiyama ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Gene Mutation ◽  
Congenital Hypothyroidism ◽  
Elevated Serum ◽  
Gene Mutations ◽  
Thyroid Scintigraphy ◽  
Serum Thyroglobulin ◽  
Hyperplastic Nodule ◽  
Thyroglobulin Gene ◽  
Cold Nodule

Thyroglobulin gene mutation is a rare cause of congenital hypothyroidism, but thyroglobulin gene mutations are thought to be associated with thyroid cancer development. A 21-year-old Japanese man treated with levothyroxine for congenital hypothyroidism had an enlarged thyroid gland with undetectable serum thyroglobulin despite elevated serum TSH level. The patient was diagnosed with thyroglobulin gene mutation, with compound heterozygosity for Gly304Cys missense mutation and Arg432X nonsense mutation. Ultrasonography showed a hypovascular large tumor in the left lobe that appeared as a cold nodule on thyroid scintigraphy. He underwent total thyroidectomy, but pathological study did not reveal findings of thyroid carcinoma, but rather a hyperplastic nodule with hemorrhage. Strong cytoplasmic thyroglobulin immunostaining was observed, but sodium iodide symporter immunostaining was hardly detected in the hyperplastic nodule. The clinical characteristics of patients with thyroglobulin gene mutations are diverse, and some patients are diagnosed by chance on examination of goiter in adults. The presence of thyroid tumors that appear as cold nodules on thyroid scintigraphy should consider the potential for thyroid carcinoma, if the patient has relatively low serum thyroglobulin concentration in relation to the degree of TSH without thyroglobulin autoantibody.

Dyshormonogenesis seems to be more frequent in a group of Cameroonian children with congenital hypothyroidism

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Suzanne Ngo Um Sap ◽  
Paul Koki ◽  
Felicité Nguefack Dongmo ◽  
Louis De Djob ◽  
Annie Tedga ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Pediatric Patients ◽  
Clinical Signs ◽  
Thyroid Stimulating Hormone ◽  
Psychomotor Development ◽  
Thyroid Ultrasound ◽  
Endocrine Disorder ◽  
Psychomotor Delay ◽  
Normal Gland ◽  
Sub Saharan

AbstractCongenital hypothyroidism is a main congenital endocrine disorder, affecting 1 in 4000 births. It is not well described in sub-Saharan countries, and to draw attention to that issue, we decided to describe affected pediatric patients. We retrospectively analyzed the records of eight patients over a period of 6 years. We analyzed clinical sings of hypothyroidism and psychomotor development; hormonal assays and thyroid ultrasound were performed. We included four boys and four girls aged from 3 to 84 months at diagnosis with a median thyroid-stimulating hormone (TSH) level of 156.5 mUI/L. All except one present with a moderate psychomotor delay. Other clinical signs were classical for hypothyroidism. Thyroid ultrasound performed showed a goiter in half of patients, a normal gland in three of them and a hypoplasic gland in the last one, consonant with dyshormonogenesis. We therefore concluded that dyshormonogenesis seems to be more frequent in our context, and this raised the issue of neonatal screening of hypothyroidism in Africa.

Congenital Hypothyroidism: 8-Year Experience Using 2 Newborn Screens in Alabama

2019 ◽  
Vol 91 (5) ◽  
pp. 319-328 ◽  
Author(s):  
Leslie Pitts ◽  
Winston McCormick ◽  
Gail J. Mick
Keyword(s):  
Congenital Hypothyroidism ◽  
Congenital Heart ◽  
Thyroid Dysfunction ◽  
Thyroid Ultrasound ◽  
Central Hypothyroidism ◽  
Thyroid Dysgenesis ◽  
Newborn Screen ◽  
Screen Approach ◽  
Clinically Significant

Background/Aims: Newborn screening protocols for congenital hypothyroidism (CH) vary as to whether a TSH or T4 algorithm or some combination is performed. We aimed to determine the 3-year clinical outcome of infants diagnosed with CH and screen-positive for CH using a 2-screen protocol that measures both T4 and TSH on all specimens. Methods: Retrospective analysis of patients with CH who were detected by first (NBS1) or second (NBS2) newborn screen in Alabama (2009–2016) and followed at our university-based practice. Clinical follow-up established the final diagnoses in 146 patients, including a subset of 72 patients with eutopic glands. Results: 168 patients were studied: 139 (83%) were detected by NBS1 and 29 (17%) by NBS2. Screening T4 concentrations were 45% reduced in NBS2 compared to NBS1 (p= 0.0002). Thyroid dysgenesis was present in 55% of NBS1 patients while all in NBS2 were eutopic. Follow-up of 146 patients confirmed permanent CH in 92 patients in NBS1 (75%) and 5 in NBS2 (20%). Hispanic infants were only detected by NBS1, and 93% had permanent CH. Transient CH was associated with congenital heart disease. In patients with eutopic, permanent CH, dyshormonogenesis was confirmed in 23% of NBS1 patients and 40% of NBS2. One case of central CH was detected by each screen. Conclusions: This 8-year, retrospective study buttresses the importance of a 2-screen approach for CH by identifying 5 infants with clinically significant permanent thyroid dysfunction including dyshormonogenesis and central hypothyroidism. It is the first 2-screen study to incorporate thyroid ultrasound. Disconcertingly, 4 of 5 second-screen infants with permanent CH had no risk factors for CH, and these infants would otherwise not have been detected.

scholarly journals Thyroid Nodules in the Follow-Up of Irradiated Individuals: Comparison of Thyroid Ultrasound with Scanning and Palpation1

1997 ◽  
Vol 82 (12) ◽  
pp. 4020-4027 ◽  
Author(s):  
Arthur B. Schneider ◽  
Carlos Bekerman ◽  
Joel Leland ◽  
Jeffrey Rosengarten ◽  
Hyewon Hyun ◽  
...  
Keyword(s):  
Physical Examination ◽  
Thyroid Nodules ◽  
False Negative ◽  
Thyroid Ultrasound ◽  
Thyroid Ultrasonography ◽  
Serum Thyroglobulin ◽  
Neck Irradiation ◽  
A Prospective Study

In 1974 we began a prospective study of a cohort of 4296 individuals exposed to therapeutic head and neck irradiation during childhood for benign conditions. To define the role of thyroid ultrasonography in following irradiated individuals, we studied a subgroup of 54 individuals. They all had been screened between 1974–1976 and had normal thyroid scans and no palpable nodules at that time. Thyroid ultrasonography, thyroid scanning, physical examination, and serum thyroglobulin measurements were performed. One or more discrete ultrasound-detected nodules were present in 47 of 54 (87%) subjects. There were a total of 157 nodules, 40 of which were 1.0 cm or larger in largest dimension. These 40 nodules occurred in 28 (52%) of the subjects. Thirty (75%) of these 1.0-cm or larger nodules matched discrete areas of diminished uptake on corresponding thyroid scans. The 10 that did not match (false negative scans for ≥1.0-cm nodules) were the only nodules of this size in 7 subjects. Of 11 nodules 1.5 cm or larger, only 5 were palpable. Serum thyroglobulin correlated to the number (P = 0.04; r2 = 0.10), but not the volume of the thyroid nodules (P = 0.07; r2 = 0.08). We conclude that thyroid nodules are continuing to occur and are exceedingly common in this irradiated cohort of individuals. The results confirm that thyroid ultrasonography is more sensitive than physical examination and scanning. However, thyroid ultrasound is so sensitive and nodules so prevalent that great caution is needed in interpreting the results.

Serum thyroglobulin reference values according to NACB criteria in healthy subjects with normal thyroid ultrasound

2012 ◽  
Vol 50 (5) ◽  
Author(s):  
Luca Giovanella ◽  
Mauro Imperiali ◽  
Anna Ferrari ◽  
Alessia Palumbo ◽  
Lino Furlani ◽  
...  
Keyword(s):  
Reference Values ◽  
Healthy Subjects ◽  
Reference Interval ◽  
Reference Population ◽  
Specific Reference ◽  
Logarithmic Scale ◽  
Reference Ranges ◽  
Thyroid Ultrasound ◽  
Serum Thyroglobulin ◽  
Automated Platform

AbstractThe present study was undertaken to establish serum thyroglobulin (Tg) normal reference values in a large group of healthy subjects.Four hundred and thirty-eight non-smoking healthy subjects were selected to assess the Tg reference values (209 males, 229 non-pregnant females, age 34.7±13.1 years). Inclusion criteria were: no personal or familial history of thyroid disease, thyrotropin levels from 0.5 to 2.00 mUI/L, negative thyroperoxidase and thyroglobulin antibodies. In addition, the patients had a normal size thyroid (females ≤18 mL, males ≤25 mL) without nodules on the thyroid ultrasound (TUS). According to National Academy of Clinical Biochemistry (NACB) criteria the Tg results were transformed to a logarithmic scale and reference ranges were calculated as mean±2 SD.Serum Tg was measured on the Beckman Coulter UniCel DxI 800 automated platform by the simultaneous 1-step immunoenzymatic Access Thyroglobulin assay (Beckmann-Coulter SA, Nyon, Switzerland). Serum Tg levels were higher in females than in males (p=0.0022). Accordingly, gender-specific reference values were calculated (i.e., males: 1.40–29.2 ng/mL; females: 1.50–38.5 ng/mL).To the best of the authors’ knowledge, the first reference interval study for Tg that integrates NACB criteria and TUS assessment for the selection of the reference population is provided here.

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