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International Journal of Neonatal... Jun 2021Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan,... (Review)
Review
Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan, newborn screening programs for CH were introduced in 1979, and the clinical guidelines for newborn screening of CH were developed in 1998, revised in 2014, and are currently undergoing further revision. Newborn screening strategies are designed to detect the elevated levels of thyroid stimulating hormone (TSH) in most areas of Japan, although TSH and free thyroxine (FT4) are often measured simultaneously in some areas. Since 1987, in order not to observe the delayed rise in TSH, additional rescreening of premature neonates and low birth weight infants (<2000 g) at four weeks of life or when their body weight reaches 2500 g has been recommended, despite a normal initial newborn screening. Recently, the actual incidence of CH has doubled to approximately 1:2500 in Japan as in other countries. This increasing incidence is speculated to be mainly due to an increase in the number of mildly affected patients detected by the generalized lowering of TSH screening cutoffs and an increase in the number of preterm or low birth weight neonates at a higher risk of having CH than term infants.
PubMed: 34203169
DOI: 10.3390/ijns7030034 -
Turkish Journal of Surgery 2018The thyroid is an endocrine gland composed of two lobes connected by the isthmus tissue. Thyroid isthmus agenesis is a rare condition, and only a few cases have been...
The thyroid is an endocrine gland composed of two lobes connected by the isthmus tissue. Thyroid isthmus agenesis is a rare condition, and only a few cases have been reported in the literature. Here, we discuss the case of a 56-year-old female patient in whom agenesis of the thyroid isthmus was discovered incidentally during surgery for a multinodular goitre. When agenesis of the isthmus is found, associated thyroid lobe agenesis and the presence of ectopic thyroid tissue must be considered. In addition, associated autoimmune thyroid nodule, thyroiditis, primary thyroid carcinoma, metastasis, and amyloidosis must be considered in the differential diagnosis. Preoperative awareness of potential agenesis of the isthmus and its associated thyroid anomalies in patients with planned thyroid surgery will significantly contribute to safety during surgical procedures and result in fewer surgery-related complications.
PubMed: 29756110
DOI: 10.5152/UCD.2015.3069 -
Endocrine Journal Jan 2023Genetic factors are involved in the etiology of most diseases, but prior to 2000, the methods for identifying such factors were very limited. Genome-wide association... (Review)
Review
Genetic factors are involved in the etiology of most diseases, but prior to 2000, the methods for identifying such factors were very limited. Genome-wide association study (GWAS), developed in the 2000s, is an analytical method that can be applied to most diseases, including endocrine disorders. GWAS has provided a wealth of information on disease risks and the molecular pathogenesis of many human diseases. This review summarizes key findings from GWAS for thyroid physiology and diseases, and illustrates how GWAS is a powerful research tool to elucidate the molecular mechanisms of the diseases.
Topics: Humans; Genome-Wide Association Study; Thyroid Gland; Thyroid Function Tests; Polymorphism, Single Nucleotide; Genetic Predisposition to Disease
PubMed: 36477371
DOI: 10.1507/endocrj.EJ22-0503 -
Frontiers in Neuroscience 2021Thyroid hormones play an important role in brain development, and thyroid hormone insufficiency during the perinatal period results in severe developmental delays.... (Review)
Review
Thyroid hormones play an important role in brain development, and thyroid hormone insufficiency during the perinatal period results in severe developmental delays. Perinatal thyroid hormone deficiency is clinically known as congenital hypothyroidism, which is caused by dysgenesis of the thyroid gland or low iodine intake. If the disorder is not diagnosed or not treated early, the neuronal architecture is perturbed by thyroid hormone insufficiency, and neuropathological findings, such as abnormal synapse formation, defects in neuronal migration, and impairment of myelination, are observed in the brains of such patients. Furthermore, the expression of psychiatric disorder-related molecules, especially parvalbumin, is significantly decreased by thyroid hormone insufficiency during the perinatal period. Animal experiments using hypothyroidism models display decreased parvalbumin expression and abnormal brain architecture, and these experimental results show reproducibility and stability. These basic studies reinforce the results of epidemiological studies, suggesting the relevance of thyroid dysfunction in psychiatric disorders. In this review, we discuss the disruption of brain function associated with congenital hypothyroidism from the perspective of basic and clinical research.
PubMed: 34955723
DOI: 10.3389/fnins.2021.772382 -
Anesthesiology Nov 2017
Topics: Adult; Airway Obstruction; Bronchoscopy; Female; Humans; Lingual Thyroid
PubMed: 28617707
DOI: 10.1097/ALN.0000000000001743 -
Frontiers in Endocrinology 2022The ongoing COVID-19 pandemic calls for extensive research on various medical topics. Since the beginning of the pandemic, multiple studies investigated the impact of...
The ongoing COVID-19 pandemic calls for extensive research on various medical topics. Since the beginning of the pandemic, multiple studies investigated the impact of SARS CoV-2 on thyroid function. However, crucial data, such as trend progression over time or influence of commonly used drugs, might still be missing. We checked the thyroid function in 174 patients with PCR-confirmed COVID-19. Our research covered three separate time points of hospitalization (days 1, 4, and 10). We did not exclude patients treated with glucocorticoids but, instead, compared them with patients not treated with steroids. We correlated the results of thyroid function tests with markers of systemic inflammation. We checked if abnormal thyroid function can predict unfavorable outcomes defined as combined primary endpoint and/or secondary endpoints; the combined primary endpoint was the occurrence of death, mechanical ventilation, non-invasive ventilation, vasopressor infusion, or prolonged hospital stay, and the secondary endpoint was any of the listed events. In general, 80.46% of evaluated patients displayed abnormalities in thyroid function tests over at least one time point throughout the observation. We noticed a high prevalence of features typical for thyroid dysfunction in non-thyroidal illness (NTI). Free triiodothyronine (fT3) concentration was significantly lower in the group requiring glucocorticoids. Patients displaying abnormal thyroid function were statistically more likely to meet the predefined combined primary endpoint. We found that fT3 measured at admission could be perceived as an independent predictor of endpoint completion for all analyzed groups. Thyroid involvement is common in COVID-19. Our study supports the idea of thyroid function abnormalities being important clinical tools and allowing early recognition of possible detrimental outcomes of the disease.
Topics: COVID-19; Glucocorticoids; Humans; Pandemics; Thyroid Diseases; Thyroid Dysgenesis; Thyroid Function Tests; COVID-19 Drug Treatment
PubMed: 35966079
DOI: 10.3389/fendo.2022.939842 -
Boletin Medico Del Hospital Infantil de... 2015Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important....
Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH.
PubMed: 29425994
DOI: 10.1016/j.bmhimx.2015.05.001 -
Thyroid Research 2015Rare diseases are usually defined as entities affecting less than 1 person per 2,000. About 7,000 different rare entities are distinguished and, among them, rare...
Rare diseases are usually defined as entities affecting less than 1 person per 2,000. About 7,000 different rare entities are distinguished and, among them, rare diseases of the thyroid gland. Although not frequent, they can be found in the everyday practice of endocrinologists and should be considered in differential diagnosis. Rare non-neoplastic thyroid diseases will be discussed. Congenital hypothyroidism's frequency is relatively high and its early treatment is of vital importance for neonatal psychomotor development; CH is caused primarily by thyroid dysgenesis (85%) or dyshormonogenesis (10-15%), although secondary defects - hypothalamic and pituitary - can also be found; up to 40% of cases diagnosed on neonatal screening are transient. Inherited abnormalities of thyroid hormone binding proteins (TBG, TBP and albumin) include alterations in their concentration or affinity for iodothyronines, this leads to laboratory test abnormalities, although usually with normal free hormones and clinical euthyroidism. Thyroid hormone resistance is most commonly found in THRB gene mutations and more rarely in THRA mutations; in some cases both genes are unchanged (non-TR RTH). Recently the term 'reduced sensitivity to thyroid hormones' was introduced, which encompass not only iodothyronine receptor defects but also their defective transmembrane transport or metabolism. Rare causes of hyperthyroidism are: activating mutations in TSHR or GNAS genes, pituitary adenomas, differentiated thyroid cancer or gestational trophoblastic disease; congenital hyperthyroidism cases are also seen, although less frequently than CH. Like other organs and tissues, the thyroid can be affected by different inflammatory and infectious processes, including tuberculosis and sarcoidosis. In most of the rare thyroid diseases genetic factors play a key role, many of them can be classified as monogenic disorders. Although there are still some limitations, progress has been made in our understanding of rare thyroid diseases etiopathogenesis, and, thanks to these studies, also in our understanding of how normal thyroid gland functions.
PubMed: 25908941
DOI: 10.1186/s13044-015-0017-3 -
International Journal of Surgery... 2014Ectopic thyroid tissue remains a rare developmental abnormality involving defective or aberrant embryogenesis of the thyroid gland during its passage from the floor of... (Review)
Review
Ectopic thyroid tissue remains a rare developmental abnormality involving defective or aberrant embryogenesis of the thyroid gland during its passage from the floor of the primitive foregut to its usual final position in pre-tracheal region of the neck. Its specific prevalence accounts about 1 case per 100.000-300.000 persons and one in 4.000-8.000 patients with thyroid disease show this condition. The cause of this defect is not fully known. Despite genetic factors have been associated with thyroid gland morphogenesis and differentiation, just recently some mutation has been associated with human thyroid ectopy. Lingual region in the most common site of thyroid ectopy but ectopic thyroid tissue were found in other head and neck locations. Nevertheless, aberrant ectopic thyroid tissue has been found in other places distant from the neck region. Ectopic tissue is affected by different pathological changes that occur in the normal eutopic thyroid. Patients may present insidiously or as an emergency. Diagnostic management of thyroid ectopy is performed by radionuclide thyroid imaging, ultrasonography, CT scan, MRI, biopsy and thyroid function tests. Asymptomatic euthyroid patients with ectopic thyroid do not usually require therapy but are kept under observation. For those with symptoms, treatment depends on size of the gland, nature of symptoms, thyroid function status and histological findings. Surgical excision is often required as treatment for this condition.
Topics: Genetic Predisposition to Disease; Head; Humans; Neck; Thyroid Dysgenesis; Thyroid Gland
PubMed: 24887357
DOI: 10.1016/j.ijsu.2014.05.076 -
Annals of Pediatric Endocrinology &... Mar 2021Thyroid dysgenesis is one of the most common causes of permanent congenital hypothyroidism. Thyroid ultrasonography or scan is used to detect thyroid dysgenesis. We...
PURPOSE
Thyroid dysgenesis is one of the most common causes of permanent congenital hypothyroidism. Thyroid ultrasonography or scan is used to detect thyroid dysgenesis. We analyzed the sensitivity and specificity of thyroid ultrasonography and scan in diagnosing thyroid dysgenesis to determine the clinical utility of each thyroid imaging method.
METHODS
Sixty-one patients younger than 7 years of age were investigated via thyroid scan. Nineteen patients who were initially interpreted as having thyroid dysgenesis, such as ectopia, hemiagenesis, or aplasia, by thyroid scan were included in the study. Clinical characteristics and findings of a thyroid imaging study were reviewed.
RESULTS
Initially, thyroid scan results were interpreted as ectopia (n=9), hemiagenesis (n=1), and nonvisualization (n=9). In contrast, the results of thyroid ultrasonography were normal thyroid gland (n=5), ectopia (n=6), and hypoplasia (n=8). After reviewing the results of both studies, final imaging diagnoses were as follows: normal thyroid gland (n=5), hemiagenesis (n=1), ectopia (n=9) including 2 dual ectopy, hypoplasia (n=3), and aplasia (n=1). Thyroid ultrasonography showed higher sensitivity and specificity in detecting presence of normal thyroid gland. Thyroid scan was better to detect ectopia. Among 8 patients who were initially interpreted as having hypoplasia by ultrasonography, 4 were confirmed as ectopia and one as aplasia.
CONCLUSION
This study showed that thyroid ultrasonography is useful as the first-line imaging study to detect normal-sized eutopic thyroid gland. Thyroid scan should be performed to investigate the presence of ectopia if hypoplasia or aplasia is suspected by ultrasonography.
PubMed: 33819958
DOI: 10.6065/apem.2040120.060