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Journal articles on the topic 'Cretinismo'

Author: Grafiati

Published: 4 June 2021

Last updated: 6 February 2022

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1

Jácome Roca, Alfredo. "Descubrimiento del hipotiroidismo." Revista Colombiana de Endocrinología, Diabetes & Metabolismo 4, no. 4 (December 7, 2017): 32–37. http://dx.doi.org/10.53853/encr.4.4.150.

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Fragmento. La relación entre la glándula tiroides, cretinismo, mixedema del adulto y caquexia estrumipriva solo fue definida hacia finales del siglo XIX. El concepto de hipotiroidismo, que hoy nos parece obvio y sencillo, no existía. Habría que esperar a que —a finales del siglo XX— se descubriera el radioinmunoanálisis, se midieran las hormonas tiroideas y la TSH ultrasensible en suero, y se encontraran las desyodasas que en últimas regularían también la función tiroidea a través de la producción periférica de triyodotironina.Antes de tocar el tema que nos ocupa, es conveniente conocer los antecedentes que se refieren al conocimiento del bocio endémico y su tratamiento en la antigüedad, las primeras descripciones anatómicas de la glándula tiroides, la relación de ésta con el yodo, al hipotiroidismo congénito o cretinismo, y al descubrimiento del hipotiroidismo como tal, dejando para otra ocasión el tema de su tratamiento.

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2

Carluci, María. "Estudios antropométricos en el cretinismo endémico del Ecuador andino." Revista Ecuatoriana de Medicina y Ciencias Biológicas 8, no. 1-2 (September 5, 2017): 59–70. http://dx.doi.org/10.26807/remcb.v8i1-2.414.

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3

Benitez, Rodrigo, Leslie Degroot, Mario Paredes, and Wilson Pañafiel. "Yodo, Bocio y Cretinismo endémicos en la región Andina del Ecuador." Revista Ecuatoriana de Medicina y Ciencias Biológicas 5, no. 1 (August 7, 2017): 15–30. http://dx.doi.org/10.26807/remcb.v5i1.106.

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An inventory of the total population of isolated rural villages of the most affected Ecuadorian Andean provinces by endemic goiter was made. In each of these villages iodine content in urine, salt and water was determined. It was conclusive that the chronic iodine deficiency is sine qua non condition for the endemic; but the severity of the endemic; but the severity of the endemic doesn’t have relationship with the magnitude of the lack, rather due to the intercourse of socio-economic and biological intercurrent deficitary factors. Even with the iodine deficiency and the intercourse of the communities located more than 3,500 m, adove sea level, did not present goiter with endemic characteristics. The severity of the endemic was determined to be correlated with: incidence of nodular goiters, in the general population in the first two decades of life, presence of big goiters, incidence of goiters mean in the relation to that in woman. All of wich is epidemiologically related to the incidence of defects that would begin appearing in endemic form in a community, and in accord to the severity would follow the following order of appearing in the endemic form in a community, and in accord to the severity would follow the following order od appearance: motor abnormalities, mental deficiency, deafmutism, deafness and mutism. Finally, a familiar tendency was clearly demonstrated so that a cretin child would be born, and no relationship, on familial level, between incidence and type of goiter and the appearance.

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4

Fierro Benitez, Rodrigo, Ignacio Ramirez, Eduardo Estrella, César Hermida, Carlos Jaramillo, Julio Urresta, and José Suárez. "Prevención del cretinismo y otros defectos asociados al bocio endémico mendiante aceite yodado." Revista Ecuatoriana de Medicina y Ciencias Biológicas 8, no. 3-4 (September 5, 2017): 99–115. http://dx.doi.org/10.26807/remcb.v8i3-4.418.

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5

Croce, Laura. "Storia della lotta contro il gozzo e il cretinismo in provincia di Sondrio." L'Endocrinologo 16, no. 2 (April 2015): 77–79. http://dx.doi.org/10.1007/s40619-015-0113-6.

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6

Jácome Roca, Alfredo. "Aportes colombianos a la tiroidología." Revista Colombiana de Endocrinología, Diabetes & Metabolismo 1, no. 1 (March 24, 2017): 33–40. http://dx.doi.org/10.53853/encr.1.1.59.

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Las patologías tiroideas estudiadas inicialmente desde la época de Mutis fueron el bocio y el cretinismo endémicos. Una segunda etapa le correspondió a los endocrinólogos de la segunda mitad del siglo XX, que ampliaron los conocimientos etiológicos, patológicos, diagnósticos y terapéuticos, destacándose la investigación de agentes bociogénicos en el Valle del Cauca y la implementación de los estudios y terapéuticas con yodo radioactivo. El mejor conocimiento de estos pacientes hizo reducir las tiroidectomías a unas proporciones más racionales, mientras que programas de salud pública como la yodación de la sal y la detección rutinaria de hipotiroidismo congénito por medio de la TSH neonatal lograron un gran avance en la prevención y pronóstico de estas patologías. Actualmente se adelantan investigaciones genéticas, de técnicas quirúrgicas y de autoinmunidad, al tiempo que el país participa en estudios multicéntricos regionales sobre patologías tiroideas.Abstract Thyroid pathologies such as endemic goiter and cretinism were studied by Spanish scientist Jose Celestino Mutis during the Colonial era in Colombia. Twentieth century endocrinologists conducted research that contributed to expand our knowledge on the etiology, histopathology, diagnosis and therapy of thyroid diseases. Two advances to highlight is the discovery of goitrogens in the Valley of the Cauca River and the use of radioactive iodine for diagnostic and therapeutic purposes. A better knowledge of patients with thyroid diseases resulted in a decrease in the number of thyroidectomies to reasonable proportions, whereas public health programs such as salt-iodination and routine screening of congenital hypothyroidism via neonatal TSH, achieved significant advances in the prevention and prognosis of these pathologies. Current research is aimed at genetics, better surgical techniques and thyroid autoimmunity, while Colombian scientists are increasingly taking part in regional multi-center studies.

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7

Knobel, Meyer, and Geraldo Medeiros-Neto. "Moléstias associadas à carência crônica de iodo." Arquivos Brasileiros de Endocrinologia & Metabologia 48, no. 1 (February 2004): 53–61. http://dx.doi.org/10.1590/s0004-27302004000100007.

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Fundamentalmente, a glândula tiróide, face à carência de iodo, se adapta por incremento da captação deste halogênio, aumenta a sua massa glandular (bócio), induz secreção preferencial de T3 e eleva a síntese e liberação de TSH. Os exames laboratoriais e de imagem permitem a comprovação dos mecanismos adaptativos. A iodúria permite avaliação quantitativa do grau de carência iódica. Em algumas populações, coexiste a influência de bocígenos naturais presentes nos alimentos consumidos localmente. O cretinismo endêmico é síndrome neurológica e endócrina que conduz o indivíduo a quadro severo de rebaixamento mental e surdo-mudez. No Brasil, as moléstias associadas à carência de iodo foram sempre avaliadas por inquéritos nacionais em escolares. A correção da deficiência de iodo se faz pela adição de iodato de potássio ao sal de consumo humano. Várias leis e decretos foram elaborados tentando aperfeiçoar o sistema universal de iodação do sal, que, mais recentemente, foi aprimorado e tornou-se mais eficiente em propiciar iodo a toda população brasileira.

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8

Guiote Domínguez, María Victoria, and Katarina Kieselová. "História da Dermatoscopia." Journal of the Portuguese Society of Dermatology and Venereology 74, no. 2 (August 3, 2016): 117–22. http://dx.doi.org/10.29021/spdv.74.2.547.

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A curiosidade e/ou o interesse em querer saber o que existia para além do que o “olho humano” permitia ver, levou ao nascimento da dermatoscopia actual. Existem, no entanto, muitos documentos escritos que referem diferentes aproximações à técnica, já desde o século XVI.Estas tentativas, além de representarem um grande avanço nessa época, permitiram o desenvolvimento não só da dermatoscopia, como de outras técnicas ainda em uso, como a capilaroscopia, muito utilizada hoje em dia em doenças autoimunes, a microscopia capilar ou tricoscopia, utilizada no inicio, no diagnóstico precoce do cretinismo em recém nascidos e com inúmeras utilidades atualmente, e também a colposcopia, (baseada nos mesmos fundamentos da dermatoscopia) utilizada no diagnóstico de doenças cervicais do âmbito ginecológico. Em suma, a grande vontade de um grupo de cientistas em visualizar “in vivo” as lesões da pele, somada à translucidez da epiderme amplificada pelos distintos aparelhos, constituiram o pilar básico que deu origem à técnica.

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Pietricoski, Luciana Borowski, and Lourdes Aparecida Della Justina. "História da construção do conhecimento sobre a Síndrome de Down no século XIX e início do século XX." Research, Society and Development 9, no. 6 (April 21, 2020): e165963574. http://dx.doi.org/10.33448/rsd-v9i6.3574.

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Neste trabalho buscamos analisar e compreender a construção do conhecimento acerca da Síndrome de Down, com base principalmente nos trabalhos de John Langdon Down e suas repercussões no século XIX e início do século XX. Essa pesquisa se configura como sendo descritiva e se enquadra como um estudo de história da ciência, para isso buscamos principalmente fontes primárias e recorremos também a fontes secundárias e terciárias sobre a Síndrome de Down. John Langdon Down ocupa um papel de destaque por significativas mudanças no panorama de conhecimentos científicos do século XIX sobre a Síndrome de Down, pois realizou a sistematização e descrição da síndrome como uma condição clínica única e diferenciada, difundiu ideias de cuidados e tratamentos aos indivíduos, além de contribuir na diferenciação em relação ao “cretinismo” e outras deficiências mentais. Ao desenvolver suas reflexões, Down subsidiou outros trabalhos daquela época contribuindo para a construção do conhecimento científico sobre a síndrome. Percebemos que seus apontamentos foram corroborados por alguns e que outros pesquisadores contribuíram no processo inicial da construção do conhecimento sobre a Síndrome de Down. Este trabalho é parte de trabalho de tese de doutorado da primeira autora e fornecerá subsídios para uma próxima pesquisa sobre a construção do conhecimento a partir da segunda metade do século XX, complementando dados importantes sobre a história dessa síndrome.

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10

Jácome Roca, Alfredo. "Terapia de suplencia tiroidea: una historia del siglo XIX que aún genera noticias en el siglo XXI." Revista Colombiana de Endocrinología, Diabetes & Metabolismo 5, no. 1 (March 18, 2018): 37–40. http://dx.doi.org/10.53853/encr.5.1.340.

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Fragmento Las tiroidectomías totales del cirujano suizo y ganador del Nobel de Medicina, Teodoro Kocher, llevaron al descubrimiento del hipotiroidismo a finales del siglo XIX, gracias también a la asociación con una serie de informes de diversos investigadores. Félix Semon en 1883 relacionó la clínica de los pacientes totalmente tiroidectomizados (que Kocher denominó “caquexia estrumipriva”) con el mixedema del adulto de Gull y con el cretinismo de los Alpes, sugiriendo que eran debidas a una deficiencia de la glándula tiroides. La idea de la suplencia tiroidea En 1884, Moritz Schiff tuvo un relativo éxito en Ginebra al realizar injertos de tiroides caninos en perros tiroidectomizados, y en 1886, el inglés Víctor Horsley –quien era reconocido por sus trabajos con injertos tiroideos- asignó como funciones de la tiroides la regulación del metabolismo de mucina y la de órganos hematopoyéticos. Horsley había informado que los efectos de la tiroidectomía total en monos eran muy seguramente debidos a una pérdida de la función tiroidea (y no a una “asfixia crónica”, como había sugerido Kocher). Recomendó que se realizaran injertos subcutáneos con tiroides de oveja, cosa que hicieron en 1890 Bettencourt y Serrano, en Lisboa. El injerto colocado en uno de sus pacientes funcionó de inmediato, y los científicos describieron la mejoría lograda. El reconocido fisiólogo Gley, ese mismo año, publicó un informe sobre el tema.

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11

Coqueiro, Karen Thayane De Oliveira, and Renata Junqueira Pereira. "ESTADO NUTRICIONAL DE IODO NA GESTAÇÃO E SUA INFLUÊNCIA NA SAÚDE DO BINÔMIO MÃE-FILHO." Revista Contexto & Saúde 20, no. 41 (December 23, 2020): 62–67. http://dx.doi.org/10.21527/2176-7114.2020.41.62-67.

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A gravidez está associada a um declínio do iodo no organismo materno, que pode levar a hipotireoidismo em áreas com deficiência de iodo, por esta razão, é fundamental uma ingestão adequada durante a gravidez. Verifica-se que a insuficiente ingestão materna de iodo afeta negativamente a saúde do feto e do recém-nascido, com consequências que perdurarão por toda a vida. Esta revisão teve como objetivo descrever a importância do iodo para o período gestacional e os efeitos relacionados à sua deficiência no binômio mãe-filho. Sabe-se que o iodo é essencial para o desenvolvimento do cérebro fetal em etapas tais como a neurogênese, a diferenciação de células neuronais e gliais, a mielinização, a migração e a sinaptogênese. Nesse sentido, a deficiência de iodo na gestação e na vida extrauterina pode ocasionar um conjunto de anormalidades denominadas distúrbios da deficiência de iodo, que incluem um espectro de diferentes doenças, como hipotireoidismo, natimortos, bócio, anomalias congênitas, crescimento e desenvolvimento infantis prejudicados; atraso no desenvolvimento psicomotor; redução da capacidade cognitiva; além de elevarem as taxas de mortalidade fetal e infantil e serem considerados as principais causas evitáveis de deficiência mental na infância e cretinismo. Futuros estudos sobre o papel da deficiência iódica na saúde materna e fetal ainda são necessários para elucidar de que forma o iodo impacta nos desfechos gestacionais e perinatais e as possibilidades de intervenção para se evitar ou minimizar os efeitos indesejáveis de sua deficiência.

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12

Jácome Roca, Alfredo. "Tratado de tiroides." Revista Colombiana de Endocrinología, Diabetes & Metabolismo 2, no. 1 (March 25, 2017): 58. http://dx.doi.org/10.53853/encr.2.1.74.

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El comienzo de 2015 nos trajo una agradable sorpresa editorial. Apareció un libro —finamente impreso por la Asociación Colombiana de Endocrinología, Diabetes y Metabolismo— titulado Tratado de Tiroides, cuyo editor es un acucioso tiroidólogo, el doctor Carlos Alfonso Builes Barrera. Recordé lo difícil que fue, hace más de 40 años, haber pasado por el mismo trabajo editorial cuando con la Sociedad (ahora Asociación) de Endocrinología, publicamos La Tiroidología en Colombia, con muchas menos pretensiones que esta documentada obra.En el primer número de nuestra revista, tuve oportunidad de publicar “Aportes colombianos a la Endocrinología”, artículo donde se observa cómo han cambiado las cosas, pienso que para bien. Las mejores investigaciones colombianas sobre tiroides las dirigen cirujanos de cáncer de cuello e inmunólogos interesados en la autoinmunidad, con experiencia en investigación. Controlado está ya el bocio endémico, así existan pocas zonas yodo-deficientes en nuestro país; desapareció por tanto el cretinismo, y el hipotiroidismo congénito se detecta en el recién nacido, con cobertura casi total. En cambio, la enfermedad tiroidea autoinmune es común (tanto la enfermedad de Graves como la tiroiditis de Hashimoto), al igual que el hipotiroidismo subclínico, en particular en las mujeres posmenopáusicas; el bocio/nódulo tiroideo sigue siendo objeto de estudio por su potencial de malignidad. De vez en cuando, hay epidemias virales seguidas de episodios de tiroiditis subaguda, la discusión sigue sobre si las cirugías para cáncer papilar de tiroides (el más común y de buen pronóstico), deben ser conservadoras o radicales. Entre las pruebas de función tiroidea, el metabolismo basal, la yodoproteinemia y la captación de yodo radiactivo, desaparecieron por completo al ser remplazadas por la TSH ultrasensible, la tiroxina libre y los anticuerpos antitiroideos.

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13

Hamilton, William. "SPORADIC CRETINISM." Developmental Medicine & Child Neurology 18, no. 3 (November 12, 2008): 384–86. http://dx.doi.org/10.1111/j.1469-8749.1976.tb03662.x.

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14

Hamilton, William. "ENDEMIC CRETINISM." Developmental Medicine & Child Neurology 18, no. 3 (November 12, 2008): 386–91. http://dx.doi.org/10.1111/j.1469-8749.1976.tb03663.x.

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15

Chen, Zu-Pei, and Basil S. Hetzel. "Cretinism revisited." Best Practice & Research Clinical Endocrinology & Metabolism 24, no. 1 (February 2010): 39–50. http://dx.doi.org/10.1016/j.beem.2009.08.014.

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16

Goyens, P., J. Golstein, B. Nsombola, H. Vis, and J. E. Dumont. "Selenium deficiency as a possible factor in the pathogenesis of myxoedematous endemic cretinism." Acta Endocrinologica 114, no. 4 (April 1987): 497–502. http://dx.doi.org/10.1530/acta.0.1140497.

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Abstract. Myxoedematous endemic cretinism is prevalent in African goitre endemies. It has been related to a thyroid 'exhaustion' atrophy occurring near birth. It is proposed that this might result from the low resistance of a fragile tissue to enhanced H2O2 generation under intense thyroid stimulation by thyrotropin. In support of this hypothesis, low selenium and glutathione peroxidase serum levels have been found in the African endemic area of the Idjwi Island (Kivu, Zaire). Serum selenium and plasma glutathione peroxidase were lower in the area of high endemicity of goitre and cretinism (Northern part of the Island). However, only the former difference is statistically significant. These data thus suggest a role of oligoelements and oxygen toxicity in the pathogenesis of endemic cretinism.

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17

Pang, Xuan-Ping, An Ouyang, Tian-Sue Su, and Jerome M. Hershman. "Thyroid function of subjects with goitre and cretinism in an endemic goitre area of rural China after use of iodized salt." Acta Endocrinologica 118, no. 3 (July 1988): 444–48. http://dx.doi.org/10.1530/acta.0.1180444.

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Abstract. Endemic goitre and cretinism are still a public health problem in China. An epidemiological survey showed that about 5% of the inhabitants in Daxin village, Henan province, had goitre or cretinism after an iodized salt prevention programme had been carried out for two decades. The main food for the inhabitants of this area has an iodine content <30 nmol/kg and the water for cooking and drinking has an iodine concentration between 7–12 nmol/l. We studied thyroid function in subjects of this village. There were 42 with grade 0 goitre (males 29, females 13), 42 grade I (males 23, females 19), 27 grade II (males 9, females 18), 31 grade III (males 14, females 17) and 34 cretinism patients (males 30, females 4) diagnosed and classified according to WHO criteria. Serum T4, free T4, T3, free T3, T3 uptake, TSH and thyroglobulin were measured in these subjects. The patients with goitre or cretinism had significantly decreased serum free T4 and increased serum T3 and free T3 levels compared with those of controls. Thyroid size was positively correlated with age and serum thyroglobulin concentrations. Serum thyroglobulin was significantly increased even in the grade 0 goitre subjects. The percentages of subjects with serum free T4 < 12 nmol/l, T3 >2.5 nmol/l, free T3 >5.2 pmol/l, TSH >3.5 mU/l, T3/T4 ratio >0.03 and free T3/free T4 ratio >0.36 were significantly higher among goitre and cretinism patients than among controls. The data suggest that there is partial compensation for a marginal deficiency of iodine in the inhabitants of this village.

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18

Sauiin, Clark T. "Goiter and Endemic Cretinism." Endocrinologist 9, no. 3 (May 1999): 157–58. http://dx.doi.org/10.1097/00019616-199905000-00001.

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19

MEDEIROSNETO, G. "Thyroid autoimmunity and endemic cretinism." Lancet 335, no. 8681 (January 1990): 111. http://dx.doi.org/10.1016/0140-6736(90)90577-r.

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20

Pharoah, POD. "Perspectives on cretinism and disability." Lancet 348, no. 9040 (November 1996): 1521–22. http://dx.doi.org/10.1016/s0140-6736(05)65944-2.

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21

HALPERN, JEAN-PIERRE, STEVEN C. BOYAGES, GLENDEN F. MABERLY, JOHN K. COLLINS, CRESWELL J. EASTMAN, and JOHN G. L. MORRIS. "THE NEUROLOGY OF ENDEMIC CRETINISM." Brain 114, no. 2 (1991): 825–41. http://dx.doi.org/10.1093/brain/114.2.825.

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22

Boyages, S. C., and G. Medeiros-Neto. "Pathogenesis of myxedematous endemic cretinism." Journal of Clinical Endocrinology & Metabolism 81, no. 4 (April 1996): 1671–74. http://dx.doi.org/10.1210/jcem.81.4.8636390.

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Boyages, S. C. "Pathogenesis of myxedematous endemic cretinism." Journal of Clinical Endocrinology & Metabolism 81, no. 4 (April 1, 1996): 1671b—1674. http://dx.doi.org/10.1210/jc.81.4.1671b.

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24

Mahesh, D. M., F. K. Jebasingh, M. P. Baruah, and N. Thomas. "Cretinism presenting as a pseudotumour." Case Reports 2015, jan09 1 (January 9, 2015): bcr2014206124. http://dx.doi.org/10.1136/bcr-2014-206124.

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25

Morreale de Escobar, Gabriella. "Sporadic Cretinism: A Dangerous Misnomer." European Thyroid Journal 2, no. 1 (2013): 68. http://dx.doi.org/10.1159/000348249.

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26

Contempré, B., J. Vanderpas, and J. E. Dumont. "Cretinism, thyroid hormones and selenium." Molecular and Cellular Endocrinology 81, no. 1-3 (October 1991): C193—C195. http://dx.doi.org/10.1016/0303-7207(91)90197-z.

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27

Haque, Jasmine Ara, Hosne Ara Rahman, and Waseka Akhter Jahan. "Lingual Thyroid Diagnosed as a Cause of Cretinism: A Case Report." Journal of Current and Advance Medical Research 1, no. 2 (July 1, 2014): 42–45. http://dx.doi.org/10.3329/jcamr.v1i2.20518.

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Hypothyroidism is one of the common endocrine disorders. Causes are variable. It can be congenital or acquired. Congenital hypothyroidism termed as cretinism. Lingual thyroid is one of the rare congenital anomaly causing hypothyroidism. Its clinical incidence varies between 1/3000 and 1/10,000. Up to 70% of patients with lingual thyroid have hypothyroidism and 10% suffer from cretinism. Here a 14 year old short stuttered obese female present with the complaints of voice change & weight gain. Biochemically she was diagnosed as hypothyroid. To find out the cause it was detected the gland was not in normal position but in the lingual position which was detected by SPECT CT Tc-99m isotope thyroid scan. The patient was treated with levo-thyroxin accordingly and was improved.DOI: http://dx.doi.org/10.3329/jcamr.v1i2.20518 Journal of Current and Advance Medical Research Vol.1(2) 2014: 42-48

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28

Kiss, László. "History of endomic cretinism in Csallóköz." Orvosi Hetilap 153, no. 44 (November 2012): 1752–59. http://dx.doi.org/10.1556/oh.2012.ho2424.

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29

BOYAGES, STEVEN C., and JEAN-PIERRE HALPERN. "Endemic Cretinism: Toward a Unifying Hypothesis." Thyroid 3, no. 1 (January 1993): 59–69. http://dx.doi.org/10.1089/thy.1993.3.59.

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Al-Khayari, Omar Ahmad Almontasser, Hebah Adel Mansour, and Safiya Ali Ahmed Lotfallah. "Association between Cretinism and Prolactin Secretion." Egyptian Journal of Hospital Medicine 70, no. 3 (January 2018): 464–68. http://dx.doi.org/10.12816/0043488.

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31

White, N. J. "Nervous Endemic Cretinism in Eastern Nepal." Developmental Medicine & Child Neurology 19, no. 2 (November 12, 2008): 208–12. http://dx.doi.org/10.1111/j.1469-8749.1977.tb07970.x.

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32

Isichei, U. P., S. C. Das, and J. O. Egbuta. "Central cretinism in four successive siblings." Postgraduate Medical Journal 66, no. 779 (September 1, 1990): 751–56. http://dx.doi.org/10.1136/pgmj.66.779.751.

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Kaki, Ototaka, Shuso Arishige, and Masuhiro Noda. "Electrophysiological Study in Congenital Hypothyroidism (Cretinism)." Practica oto-rhino-laryngologica. Suppl. 1988, Supplement27 (1988): 54–58. http://dx.doi.org/10.5631/jibirinsuppl1986.1988.supplement27_54.

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34

Mohsin, H., and A. Channa. "Cretinism Muscular Hypertrophy: An Unorthodox Reflection." European Psychiatry 33, S1 (March 2016): S476. http://dx.doi.org/10.1016/j.eurpsy.2016.01.1740.

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The Kocher Debre Semelaigne Syndrome (KDSS) is also known as cretinism muscular hypertrophy. It is an unusual presentation in intellectually deficit children, commonly associated with congenital or iatrogenic hypothyroidism. The incidence of KDSS is less than 10%. It is more common in males, consanguineous marriage and age range from 18 months to 10 years [4]. The creatinine phosphokinase (CPK) is usually elevated [5]. It might be misdiagnosed particularly when other classical features of hypothyroidism are not dominant at first presentation. We present a case of 15-year-old intellectually deficit female. Her epilepsy had been managed on phenytoin for a decade. She had rigidity, leg cramps, malaise, oliguria, fever, myxedema, delayed deep tendon reflexes, calf muscle hypertrophy and agitation. Her agitation was controlled by haloperidol, which worsened the condition by altering her mental status. The patient was initially managed on line of Neuroleptic Malignant Syndrome due to raised CPK of 40,680 IU/L and mixed presentation. Nevertheless, no significant change was noticed until thyroid profile was done to exclude alternative resources. Thyroid stimulating hormone (TSH) was 74.5 IU, free T3 1.22 ng/dL, and free T4 0.43 ng/dL. Thyroxine was started along with change in anti-epileptic and recovery was observed within five days. This case report highlights the inconsistent finding from previously reported cases of KDSS. The female gender, non-consanguineous marriage, slightly delayed onset with primarily neuromuscular symptoms, and raised CPK is not the frequent demonstration in KDSS. On parallel, thyroid work-up is not routinely done, which can lead to misdiagnosis and mismanagement.References not available.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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Verheesen, R. H., and C. M. Schweitzer. "Iodine deficiency, more than cretinism and goiter." Medical Hypotheses 71, no. 5 (November 2008): 645–48. http://dx.doi.org/10.1016/j.mehy.2008.06.020.

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Boyages, StevenC, GlenF Maberly, Jin Chen, Jean-Pierre Halpern, CreswellJ Eastman, Wang Zhen-Hua, ReindertD Van Der Gaag, and HemmoA Drexhage. "ENDEMIC CRETINISM: POSSIBLE ROLE FOR THYROID AUTOIMMUNITY." Lancet 334, no. 8662 (September 1989): 529–32. http://dx.doi.org/10.1016/s0140-6736(89)90654-5.

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DUNN, JOHN T. "Iodine Supplementation and the Prevention of Cretinism." Annals of the New York Academy of Sciences 678, no. 1 Maternal Nutr (March 1993): 158–68. http://dx.doi.org/10.1111/j.1749-6632.1993.tb26119.x.

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LEWIS, MAXWELL H. R. "Cretinism: a culinary cure for the curriculum." Biochemical Society Transactions 14, no. 2 (April 1, 1986): 417–25. http://dx.doi.org/10.1042/bst0140417.

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39

Lin, Chin-Hsing, Stephen J. Tapscott, and James M. Olson. "Congenital Hypothyroidism (Cretinism) in neuroD2-Deficient Mice." Molecular and Cellular Biology 26, no. 11 (June 1, 2006): 4311–15. http://dx.doi.org/10.1128/mcb.02158-05.

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ABSTRACT Mice lacking neuroD2, a basic helix-loop-helix transcription factor involved in brain development, show growth retardation and other abnormalities consistent with hypothalamic-pituitary-thyroid (HPT) axis dysfunction. neuroD2 is expressed in the paraventricular hypothalamic nuclei, the anterior lobe of pituitary, and the thyroid gland. In neuroD2-deficient mice, thyrotropin-releasing hormone, thyroid-stimulating hormone, and thyroid hormone are decreased in these three regions, respectively. neuroD2-null mice typically die 2 to 3 weeks after birth, but those treated with replacement doses of thyroxine survived more than 8 weeks. These data indicate that neuroD2 is expressed throughout the HPT axis and that all levels of the axis are functionally affected by its absence in mice.

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Syed, S. "Iodine and the "Near" Eradication of Cretinism." PEDIATRICS 135, no. 4 (March 30, 2015): 594–96. http://dx.doi.org/10.1542/peds.2014-3718.

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41

Sankar, R., T. Pulger, Bimal Rai, S. Gomathi, T. R. Gyatso, and C. S. Pandav. "Epidemiology of endemic cretinism in Sikkim, India." Indian Journal of Pediatrics 65, no. 2 (March 1998): 303–9. http://dx.doi.org/10.1007/bf02752308.

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Simic, M., M. Banisevic, Z. Andjelkovic, G. Zivic, L. Zikic, D. Beloglav, D. Simic, G. A. Gerasimov, and B. Mishchenko. "Complete elimination of iodine deficiency-induced diseases in the Republic of Serbia through overall salt iodination." Problems of Endocrinology 49, no. 1 (February 15, 2003): 37–40. http://dx.doi.org/10.14341/probl11455.

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The territory of Serbia has been long known to be an iodine deficiency area. The surveys conducted in the past 50 years have shown that iodine deficiency disorders ranged from small goiters to endemic cretinism. The iodine deficiency control program has been implemented in Serbia since 1951, in so doing, the salt concentration of iodine (as potassium iodide) has been gradually increased and at present it is 20 mg/kg. Just in the mid- 1960s, iodine prophylaxis led to cessation of new cases of cretinism and large goiters.This survey was undertaken to determine the iodine provision in Serbia. The survey was conducted in accordance with the WHO, UNICEF, and ICCIDD guidelines and it covered 4598 schoolchildren aged 7 to 15 years from the urban and rural areas of 44 municipalities of Central Serbia and Vojvodina. Among all the examinees, the detection rate of the enlarged thyroid was 2.35% (as evidenced by ultrasound study) and the median urinary iodine concentration was 158 μg/l. The findings suggest that iodine deficiency has been completely eliminated in Serbia due to the effective program of the overall dietary salt iodination.

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Optican, R. J., K. S. White, and E. L. Effmann. "Goitrous cretinism manifesting as newborn stridor: CT evaluation." American Journal of Roentgenology 157, no. 3 (September 1991): 557–58. http://dx.doi.org/10.2214/ajr.157.3.1872244.

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Whitrow, Magda. "Wagner-Jauregg's contribution to the study of cretinism." History of Psychiatry 1, no. 3 (September 1990): 289–308. http://dx.doi.org/10.1177/0957154x9000100302.

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Yeung, V. T., E. P. Loong, and C. S. Cockram. "Cretinism and lingual thyroid presenting in an adult." Postgraduate Medical Journal 63, no. 744 (October 1, 1987): 881–83. http://dx.doi.org/10.1136/pgmj.63.744.881.

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Akopenko, A. F. "About the influence of thyroidectomy on the growth and development of the bone and nervous system in young animals." Neurology Bulletin VI, no. 3 (October 30, 2020): 72–131. http://dx.doi.org/10.17816/nb48688.

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The multifaceted and dark question of the function of the thyroid gland is extremely important, since it is associated with very many serious issues from various areas of medical science. By the way, in the last time, the question of trophic influences of the thyroid glands is increasingly emerging, the question of whether the proper nutrition and development of tissues can depend on the function of the gland. It would be extremely interesting and important to solve this question, since in the direct connection with him there is the question of the immediate ethology of cretinism. Many observations (Virchow, Kocher, Bruns, Grundier, etc.) confirm the existence of a relationship between the action of the gland and the correct nutrition and development of tissues, therefore it would be important to establish this relationship not by an observational, but by a purely experimental way: that is, to put the animal in observed by observers conditions (loss of function of the gland) and see if we get the described phenomena (trophic disorders). With this goal in the course of 1896, in the laboratory of the highly respected Professor V.M. Bekhterev, I undertook a number of experiments aimed at finding out the influence of the function of the thyroid gland on the development of growing animal tissues of the body, mainly bone and nervous, as the most interested in the manifestations of cretinism.

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Dasgupta, Purnendu K. "Perchlorate: a cause for iodine deficiency?" Environmental Chemistry 6, no. 1 (2009): 7. http://dx.doi.org/10.1071/en08108.

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Environmental context. Depending on its severity, inadequate iodine nutrition can lead from minor developmental disorders all the way to cretinism. In recent years, the omnipresence of environmental perchlorate, a potent iodine transport inhibitor, has been much in the news but the ultimate issue of iodine nutrition has largely been ignored. There is little consciousness that even many developed nations are putting future generations in peril with vulnerable populations that are barely iodine sufficient, whether or not there is any excessive perchlorate intake.

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Boyages, S., J. K. Collins, G. F. Maberly, J. G. Morris, J. J. Jupp, and C. J. Eastman. "Congenital Iodine Deficiency Disorders (Endemic Cretinism): History and Description." Australia and New Zealand Journal of Developmental Disabilities 13, no. 1 (January 1987): 3–11. http://dx.doi.org/10.3109/13668258708998648.

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Schlich, Thomas. "Changing disease identities: cretinism, politics and surgery (1844–1892)." Medical History 38, no. 4 (October 1994): 421–43. http://dx.doi.org/10.1017/s0025727300036929.

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DONATI, L., A. ANTONELLI, F. BERTONI, D. MOSCOGIURI, M. ANDREANI, S. VENTURI, T. FILIPPI, L. GASPERINI, S. NERI, and L. BASCHIERI. "Clinical Picture of Endemic Cretinism in Central Apennines (Montefeltro)." Thyroid 2, no. 4 (January 1992): 283–90. http://dx.doi.org/10.1089/thy.1992.2.283.

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