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Jia Huang,1,2,* Haiyan Wu,2,* Guiqiang Zhao,3 Yan Ma,1 Yunping An,4 Li Sun,5 Fuye Li,1 Shengling Wang2 1Department of Public Health, Xinjiang Medical University, Urumqi, Xinjiang, 830054, People’s Republic of China; 2Division of Endemic Disease Prevention, Xinjiang Uygur Autonomous Region Center for Disease Control and Prevention, Urumqi, Xinjiang, 830002, People’s Republic of China; 3Infection Management Department, Affiliated Hospital of Traditional Chinese Medicine of Xinjiang Medical University, Urumqi, Xinjiang, 830000, People’s Republic of China; 4Kashgar District Center for Disease Control and Prevention, Kashgar, Xinjiang, 844000, People’s Republic of China; 5Ingisha County Center for Disease Control and Prevention, Kashgar, Xinjiang, 844500, People’s Republic of China*These authors contributed equally to this workCorrespondence: Shengling Wang, Department of Division of Endemic Disease Prevention, Center for Disease Control and Prevention of Xinjiang Uighur Autonomous Region, No. 380 of Jianquan Road, Urumqi, Xinjiang, 830002, People’s Republic of China, Tel +86-18599067010, Fax +86-991-2614020, Email shenglingwangwshl@126.com Fuye Li, Department of Public Health, Xinjiang Medical University, No. 393 Xinyi Road, Urumqi, Xinjiang, 830054, People’s Republic of China, Tel +86-18599067010, Fax +86-991-2614020, Email lifuyebgf@outlook.comBackground: Cretinism is a subtype of congenital hypothyroidism, an endocrine disorder resulting from inadequate thyroid hormone production or receptor deficiency. Genetic abnormalities play a major role in the development of thyroid dysfunction.Methods: We recruited 183 participants with cretinism and 119 healthy participants from the Xinjiang Uyghur Autonomous Region and randomly selected 29 tag single nucleotide polymorphisms (tSNPs) in TSHB, PAX8, TPO, NKX2-5, and TSHR in all participants. We compared genotype and allele frequencies between cases and controls utilizing the chi-squared test, logistic regression analysis, and haplotype analysis.Results: Using the chi-squared test, a single SNP was found to be associated with cretinism (recessive model: rs3754363, OR = 0.46, 95% CI = 0.27– 0.80, P = 0.00519; genotype model: P = 0.01677). We stratified neurological, myxedematous, and mixed type and determined that another SNP was associated with a higher risk when comparing myxedematous type to the neurological type (rs2277923).Conclusion: rs3754363 has a statistically significant protective effect on people with cretinism, while rs2277923 may play a greater role in promoting the development of neurocretinism.Keywords: chi-squared test, cretinism, NKX2-5, SNPs

Iodine is an essential component of the hormones produced by the thyroid gland and is, therefore, essential for mammalian life. A landmark trial in the early 20th century definitively demonstrated that iodine supplementation could prevent what was then known as "endemic goiter." Subsequent studies over the next decades demonstrated that iodine deficiency causes a spectrum of disease, including not just goiter, but also cretinism, intellectual impairment, and adverse obstetric outcomes. Salt iodization, first used in Switzerland and the United States in the1920s, has become the mainstay of iodine deficiency prevention efforts. The dramatic reduction in the global prevalence of iodine deficiency disorders (IDD) over the past 30 years represents an outstanding and under-recognized public health achievement. This narrative review provides an overview of critical scientific discoveries and advances in public health nutrition related to the prevention of IDD in the United States and worldwide. This review was written to commemorate the centennial of the founding of the American Thyroid Association. [ABSTRACT FROM AUTHOR]

A genetic deficiency of the solute carrier monocarboxylate transporter 8 (MCT8), termed Allan–Herndon–Dudley syndrome, is an important cause of X-linked intellectual and motor disability. MCT8 transports thyroid hormones across cell membranes. While thyroid hormone analogues improve peripheral changes of MCT8 deficiency, no treatment of the neurological symptoms is available so far. Therefore, we tested a gene replacement therapy in Mct8 - and Oatp1c1 -deficient mice as a well-established model of the disease. Here, we report that targeting brain endothelial cells for Mct8 expression by intravenously injecting the vector AAV-BR1- Mct8 increased tri-iodothyronine (T3) levels in the brain and ameliorated morphological and functional parameters associated with the disease. Importantly, the therapy resulted in a long-lasting improvement in motor coordination. Thus, the data support the concept that MCT8 mediates the transport of thyroid hormones into the brain and indicate that a readily accessible vascular target can help overcome the consequences of the severe disability associated with MCT8 deficiency. [ABSTRACT FROM AUTHOR]

Pregnancy is a period of increased demands on all organs and systems of the mother’s body, including the thyroid gland (TG). The productivity of the thyroid gland increases by 30–50%. For continuous and sufficient synthesis of thyroid hormones (TG) requires optimal intake of dietary iodine. The need for a microelement increases significantly during pregnancy, due to increased activity of the thyroid gland. Iodine deficiency of mild or moderate degrees leads to insufficient synthesis of thyroid hormones, despite its compensatory increase. Hypothyroidism in women is one of the causes of infertility. Hypothyroidism in pregnant women significantly increases the risk of preterm birth. Iodine deficiency has a serious impact on the intrauterine development of the fetus, because iodine and thyroid hormones (TG) are actively involved in the development of the fetus, the formation of various organs and the development of the brain. In order to prevent the dangerous consequences of iodine deficiency in the Russian Federation, mass prevention is carried out in the form of the use of iodized salt. During the 1st trimester of pregnancy, each woman undergoes a laboratory test of the level of TSH, total T4 and total T3 as a screening in order to correct the hypofunction of the thyroid gland in time. In pregnant women, especially in the first trimester, iodine requirements increase by 50%, which requires not only the mandatory use of iodized salt, but also the appointment of pharmacological preparations of iodine with an accurate dosage. Preventive measures may not be enough, then replacement therapy with levothyroxine is used throughout the pregnancy.

The history of the thyroid dates from 2697 BCE when the "Yellow Emperor" Hung Ti described the use of seaweed to treat goiter. The English name "thyroid" was coined by Thomas Wharton in 1656 from the Greek word for a shield. Bernard Courtois discovered iodine in 1811 when he noted a residual purplish ash while burning seaweed. Robert Graves is known for his classic 1835 report of "palpitations, goiter, and exophthalmos" in three women, but Caleb Parry observed the same clinical features in 1786. The clinical syndrome we now recognize as hypothyroidism was characterized as "myxoedema" in 1878 by William Ord at St. Thomas Hospital. In 1891, George Murray reported that injection of thyroid extract from sheep led to improvement in symptoms in a woman with myxedema. Thomas Kocher, who reported that patients with goiter who underwent complete thyroidectomy developed cachexia strumipriva, was awarded the Nobel Prize in Physiology and Medicine in 1909. Edward Kendall discovered "thyroxin" on Christmas day in 1914. Studies by David Marine that iodine treatment prevented endemic goiter led to salt iodination, which has largely eradicated endemic cretinism. In 1973, Jean Dussault reported detection of congenital hypothyroidism by screening newborn populations. [ABSTRACT FROM AUTHOR]

Background Food fortification is the addition of 1 or more micronutrients to commonly consumed foods and is utilized by many countries as a public health intervention to prevent and control micronutrient deficiencies. As iodine deficiency was a major public health issue globally, the WHO developed evidence-based guidelines for the fortification of salt with iodine. The implementation of salt iodization has been highly successful in reducing iodine deficiency disorders worldwide and is recommended as the main strategy to prevent iodine deficiency. Objectives This analysis compared salt iodization requirements specified in countries' salt standards with WHO 2014 Guidelines on salt fortification. Methods For countries with mandatory salt iodization legislation, data from the Global Fortification Data Exchange regarding iodine amounts and iodine compounds, to be added to salt per the country standard and corresponding national salt intake quantities, were compared with 2014 WHO Guidelines. Results As of 4 September 2021, 110 countries with mandatory salt iodization legislation had national salt standards that specified iodine amounts and compounds and salt intake data. All but 1 specified at least 1 recommended iodine compound, but the majority specified higher iodine amounts in salt standards than indicated in the guidelines, taking salt consumption levels into account. Our analysis did not find excess iodine intake as a result; however, we did not have data on the extent of compliance with national salt standards. Conclusions Existing iodization requirements in salt standards appear to be appropriate for most countries. Countries in which iodine amounts in salt standards are significantly higher than those recommended in the 2014 Guidelines, in particular those with low compliance with national standards or excess iodine intake, may wish to review program process and output indicators and assess whether current iodine amounts in standards would result in excessive intake if implementation was improved. [ABSTRACT FROM AUTHOR]

We report the case of a 5-month-old male, born out of a nonconsanguineous marriage, who presented with an inability to hold neck. As per the parents, he had diminished spontaneous movements since birth and described him as lethargic. He was clinically diagnosed with cretinism by a pediatric neurologist. He was referred by to the department of physiotherapy for evaluation and advice for the associated motor delay. On observation, the infant displayed peculiar clinical features of sparse hair, periorbital edema and macroglossia (A). Irritability, hoarse cry, abdominal distension and frog leg position was observed in supine lying position (B). Examination revealed generalized hypotonia, wide fontanelles, feeding difficulties and global developmental delay. He was neither able to roll over from supine to prone nor was he able to hold neck adequately. He had head lag during pull to sit test. Due to financial constraints, they were not willing to attend physiotherapy sessions on a regular basis. Thus, parents were educated about the home exercise program that included active assisted rolling, neck extensor muscles facilitation against gravity while lying prone on forearm, active assisted reaching out for objects while lying, neck flexor muscles facilitation in gravity minimized plane and active neck rotations to look at objects of interest while side lying on forearm support. Congenital hypothyroidism is still a common cause of developmental delay in newborns of the developing countries. Awareness, universal newborn screening, prompt recognition and medical treatment along with physiotherapy can minimize adverse effect on the physical and neurocognitive development.

Thyroid hormones are crucial for normal development of a child from early foetal life. They have an impact on the development of the central nervous system, both prenatally and up to the age of 3 years, and regulate growth and most metabolic processes. Their importance has led to the introduction of screening for congenital hypothyroidism, which has been conducted in Poland for over 40 years. The diagnosis of congenital hypothyroidism necessitates immediate levothyroxine implementation and strict treatment monitoring. Thanks to iodine prophylaxis, children in Poland do not require additional iodine administration. An isolated increase in thyroid-stimulating hormone concentration without clinical signs of hypothyroidism and with negative antithyroid antibodies does not require treatment, but only monitoring of thyroidstimulating hormone levels. Children with positive antithyroid antibodies, genetic syndromes that predispose to hypothyroidism and history of thyroid irradiation require more frequent controls. The recommendations for suspected hypothyroidism presented in this article are based on the European Thyroid Association guidelines from 2014 on the management of subclinical hypothyroidism in children and pregnant women.

One of the priorities of health care in most countries is the prevention of iodine deficiency disorders (IDD). About two billion people live in areas of natural iodine deficiency. It is known that insufficient intake of iodine in utero and in early childhood is the greatest danger. Changes caused by iodine deficiency in these periods of life manifest in irreversible defects of intellectual and physical development. However, the entire spectrum of IDD is wide and extends from reproductive disorders to specific thyroid diseases. According to the World Health Organization (UNICEF), in 96 countries with iodine deficiency are already laws and regulations on mandatory salt iodization, only 13 countries do not have the law, including Russia. It is proved that the Russian population continues to live in conditions of uncompensated iodine deficiency. In this connection it is extremely relevant conduct mass iodine prophylaxis and individual using preparations containing a physiological dose of iodine (such as Jodomarin) in high-risk groups on a statutory basis.

Objective: The objective of the study was to determine the oral hygiene status in cretinism patients. Good oral hygiene is essential for the well-being of an individual. However, lack of knowledge, negative attitude, and poor oral hygiene practices may lead to poor oral hygiene and predispose oral related diseases. However, we must see if cretinism patients can take care of their teeth as well as they have stunted growth and mental disability. This study is sought to determine whether cretinism patients can correlate with general health. Materials and Methods: A cross-sectional survey was conducted in Apollo Hospital in Chennai. The parents of cretinism patients (total = 62) were distributed with a questionnaire that was prepared on oral health and oral hygiene practices to assess their knowledge and awareness on oral hygiene. Results: Majority of the parents were not aware about oral health on an average level. General health and oral practices affect the quality of life and which was very important for well-being. Most of their children brushed once a day, with the help of the caretakers, and almost 80% of the children had bad breath, which means the oral hygiene practice was not being taught to them properly. There was a correlation between the level of the knowledge and awareness of the parents and the oral hygiene practice and their oral status. It is important that oral hygiene practices should be carried out on a regular basis to enable prevention of dental diseases. Conclusion: The level of knowledge and awareness on oral health effects, oral hygiene practice, and oral hygiene status in cretinism patients drastically. Hence, the patients, the hospitals, and the caretakers should be made aware of the significance and importance of oral health. Patients and their caretakers need to be more aware of the significance of brushing and flossing their teeth daily. Parents need to be educated to promote healthy habits in their children. [ABSTRACT FROM AUTHOR]

Abstract: Iodine, a dynamic nutrient present in thyroid hormones, is responsible for regulating thyroid function, supporting a healthy metabolism, and aiding growth and development. Iodine is also essential for brain development during specific time windows influencing neurogenesis, neuronal and glial cell differentiation, myelination, neuronal migration, and synaptogenesis. About 1.5 billion people in 130 countries live in areas at risk of iron deficiencies (IDs). Reduced mental ability due to IDs occurs in almost 300 million people. Ensuring the consumption of minimum recommended daily allowances of iodine remains challenging. The effects of ID disorders range from high mortality of fetuses and children to inhibited mental development (cretinism). Poor socioeconomic development and impaired school performance are also notable. Currently, ID disorders are the single greatest contributor to preventable brain damage in fetuses and infants and arrested psychomotor development in children. Iodized salt may help fulfill iodine requirements. Increases in food salt iodization programs can help overcome ID disorders. Dietary plans can be well adjusted to incorporate iodinated foods. Maternal iodine supplementation for offspring requires adequate attention. Fruits, vegetables, bread, eggs, legumes (beans and peas), nuts, seeds, seafood, lean meats and poultry, and soy products provide small quantities of iodine. Nutrient‐dense foods containing essential vitamins and minerals such as iodine may confer positive effects. To some extent, fortified foods and daily dietary supplements can be provided for different nutrients including iodine; otherwise, iodine may be consumed in less than the recommended amounts. This review focuses on aspects of adequate iodine consumption to avoid cognitive impairments. [ABSTRACT FROM AUTHOR]

Disorders of the thyroid gland are frequently encountered in the clinical practice setting and typically fall into one of two categories, namely hypothyroidism (i.e. deficient levels of circulating thyroid hormone), or hyperthyroidism (or thyrotoxicosis) that involves abnormally high levels of thyroid hormone in the blood stream. This article provides a high-level overview of thyroid function, the two major pathophysiological abnormalities of the thyroid gland, as well as treatment modalities aimed at managing patients with thyroid pathology. In addition, a brief description of two major autoimmune conditions of the thyroid gland, namely Graves' disease and Hashimoto's thyroiditis, is also provided. [ABSTRACT FROM AUTHOR]

Iodine is а vital microelements that are essential for the normal human development and functions. Iodine deficiency is a global problem: about 2 billion individuals worldwide suffer from a lack of iodine. Despite goiter is the most visually noticeable manifestation of iodine deficiency, the most significant consequence of the iodine deficiency is impaired neurodevelopment, particularly early in life. Moreover, moderate to severe iodine deficiency increases the risk of spontaneous abortion, low birth weight and infant mortality. Babies in utero affected by iodine deficiency are at increased risk of mental developmental disorders, cretinism is their extreme degree. In addition, moderate to severe iodine deficiency in childhood negatively affects somatic growth. Iodine deficiency compensation improves cognitive and motor function in children. Iodine prophylaxis of deficient populations is an extremely effective approach to reduce the substantial adverse effects of iodine deficiency throughout the life cycle.

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Thyroid disease, a neglected tropical disease and the most common noncommunicable disease in the developing world, is overlooked, under-diagnosed, and inadequately managed. The spectrum of thyroid disorders in the developing world is qualitatively different from that found in industrialized countries. This qualitative difference has resulted in limited access to clinical, laboratory, and imaging resources that are necessary for the care of patients with thyroid disease. The management of thyroid disease in the developing world is comparable to the care provided for disorders of the thyroid in North America fifty years ago. This article reviews public health and clinical aspects of developing world medical and surgical thyroid disease. Topics covered include iodine deficiency disorders, congenital hypothyroidism, goiter, thyroid cancer, and hyper- and hypothyroidism. The review concludes with a description of programs based on smartphone technology to improve the availability, affordability, and quality of thyroid disease care. [ABSTRACT FROM AUTHOR]

Objective: To identify factors that discriminate between transient and permanent congenital hypothyroidism.Methods: Retrospective evaluation of 58 children with congenital hypothyroidism and eutopic thyroid gland. Gender, gestational age, birth weight, TSH and serum thyroxine levels at diagnosis and L-thyroxine dose at 12 and 24 months of age were analyzed.Results: Median (IQR) initial TSH levels were 73.3 (276.5) μIU/mL in permanent hypothyroidism and 24.24 (52.7) μU/mL in transient hypothyroidism (P =0.0132). The optimum cut-off value of initial TSH to predict transient hypothyroidism was 90 μIU/mL. Mean (SD) L-thyroxine doses at 24 months of age were 2.64 (0.98) μg/kg/day in permanent hypothyroidism and 1.91 (0.65) μg/kg/day in transient hypothyroidism. Requirement of Lthyroxine dose at 24 months of ≤0.94 μg/kg/day had the highest sensitivity (100%) to predict transient hypothyroidism.Conclusions: L-thyroxine doses at 24 months can predict transient hypothyroidism in patients with eutopic thyroid gland earlier than at 36 months. [ABSTRACT FROM AUTHOR]

The dance of Siva has a cosmic appeal. Nowhere has this dance been crystallised in its pristine form as in the Nataraja Bronzes from the Chola period. Mysticism surrounds the dancing form of the Nataraja. But does Nataraja dance upon an endocrine mystery. Does the demon under his feet Apasmara literally forgetfulness or epilepsy have an endocrine disorder. The short limbed stocky eye popping dwarf with possible mental retardation with a name that suggests epilepsy throws open a host of endocrine diagnoses. From cretinisim to the original descriptions of pseudohypoparathyroidism here is one view of the medical mystery under Shiva′s dancing feet.

Iodine Deficiency Disorders (IDD) are one of the biggest worldwide public health problem of today. Their effect is hidden and profoundly affects the quality of human life. Iodine deficiency occurs when the soil is poor in iodine, causing a low concentration in food products and insufficient iodine intake in the population. When iodine requirements are not met, the thyroid may no longer be able to synthesize sufficient amounts of thyroid hormone. The resulting low-level of thyroid hormones in the blood is the principal factor responsible for the series of functional and developmental abnormalities, collectively referred to as IDD. Iodine deficiency is a significant cause of mental developmental problems in children, including implications on reproductive functions and lowering of IQ levels in school-aged children. The consequence of iodine deficiency during pregnancy is impaired synthesis of thyroid hormones by the mother and the foetus. An insufficient supply of thyroid hormones to the developing brain may result in mental retardation. Brain damage and irreversible mental retardation are the most important disorders induced by iodine deficiency. Daily consumption of salt fortified with iodine is a proven effective strategy for prevention of IDD.

Thyroid hormones are of central relevance for growth and development. However, the underlying molecular mechanisms are still not fully understood. Recent studies in humans and mice have demonstrated that serum levels of selenium (Se) and copper (Cu) are positively affected by thyroid hormones. Given the importance of these trace elements for many biochemical processes, we tested whether this interaction is found in children at risk for hypothyroidism, potentially providing a novel factor contributing to the disturbed development observed in congenital hypothyroidism (CH). We conducted a cross-sectional analysis of 84 children diagnosed with CH displaying a wide range of thyroid hormone concentrations. Serum Se and Cu concentrations were measured by total reflection X-ray fluorescence. Data for thyrotropin (TSH) were available in all, thyroxine (T4) and free thyroxine (fT4) in the majority and triiodothyronine (T3) in 29 of the children. Spearman rank analyzes were performed. Cu and thyroid hormones showed a strong positive correlation (Cu/T4, rho = 0.5241, P = 0.0003; Cu/T3, rho = 0.6003, P = 0.0006). Unlike in adults, no associations were found between Se and any of the thyroid hormones. Our data highlight that serum Cu and thyroid hormones are strongly associated already in early postnatal life. Severely hypothyroid children are thus at risk of developing a Cu deficiency if not adequately nourished or supplemented. This finding needs to be verified in larger groups of children in order not to miss an easily-avoidable risk factor for poor development. [ABSTRACT FROM AUTHOR]

Author(s): Gilles Grelet | Жил Греле Title (French): La grande théorie des crétins Title (Macedonian): Големата теорија за кретените Translated by (French to Macedonian): Zoran Jovanovski | Зоран Јовановски Journal Reference: Identities: Journal for Politics, Gender and Culture, Vol. 3, No. 2 (Winter 2004) Publisher: Research Center in Gender Studies - Skopje and Euro-Balkan Institute Page Range: 269-275 Page Count: 7 Citation (French): Gilles Grelet, “La grande théorie des crétins,” Identities: Journal for Politics, Gender and Culture, Vol. 3, No. 2 (Winter 2004): 269-275. Citation (Macedonian): Жил Греле, „Големата теорија за кретените“, превод од француски Зоран Јовановски, Идентитети: списание за политика, род и култура, т. 3, бр. 2 (зима 2004): 269-275.

The importance of thyroid hormones during brain development has been appreciated for many decades. In humans, low levels of circulating maternal thyroid hormones, e.g. caused by maternal hypothyroidism or lack of iodine in diet, results in a wide spectrum of severe neurological defects, including neurological cretinism characterized by profound neurologic impairment and mental retardation, underlining the importance of the maternal thyroid hormone contribution. In fact, iodine intake, which is essential for thyroid hormone production in the thyroid gland, has been related to the expansion of the brain, associated with the increased cognitive capacities during human evolution. Because thyroid hormones regulate transcriptional activity of target genes via their nuclear thyroid hormone receptors, even mild and transient changes in maternal thyroid hormone levels can directly affect and alter the gene expression profile, and thus disturb fetal brain development. Here we summarize how thyroid hormones may have influenced human brain evolution through the adaptation to new habitats, concomitant with changes in diet and, therefore, iodine intake. Further, we review the current picture we gained from experimental studies in rodents on the function of maternal thyroid hormones during developmental neurogenesis. We aim to evaluate the effects of maternal thyroid hormone deficiency as well as lack of thyroid hormone receptors and transporters on brain development and function, shedding light on the cellular behavior conducted by thyroid hormones.

Goiter (the abnormal enlargement of the thyroid gland) is the most specific clinical marker of iodine deficiency in the human body. According to WHO, iodine deficiency is the most common cause of preventable brain damage, causing impaired cognitive development in children, and in many countries it is still a major health problem. During pregnancy, severe iodine deficiency may impair fetal development, resulting in cretinism, with irreversible mental retardation and developmental abnormalities, as well as miscarriage and stillbirth. This is a review of the endocrinological and neuropsychological studies conducted on the iodine deficient population of Montefeltro, a territory in central Italy, where the use of iodized table salt has only recently eradicated endemic malnutrition in its young population. However, in adults and the elderly scars still remain with some neuropsychiatric disorders and the last surviving cases of cretinism. I would also like to point out that research into the biochemical compounds of iodine is a new area of investigation and one which may provide insights into apoptosis, carcinogenesis and many cardiovascular and degenerative diseases. [ABSTRACT FROM AUTHOR]