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Arch. argent. pediatr ; 119(1): S8-S16, feb. 2021. tab, ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1147356


El hipotiroidismo es la disfunción tiroidea más frecuente, resultante de una disminución de la actividad biológica de las hormonas tiroideas en los tejidos. El objetivo es realizar una revisión y actualización del hipotiroidismo adquirido en la infancia y adolescencia con énfasis en el hipotiroidismo primario. La causa más común es la tiroiditis de Hashimoto o tiroiditis linfocitaria crónica. La característica distintiva es el impacto profundo en el crecimiento esquelético, maduración y desarrollo puberal, con potencial repercusión en la talla adulta. Los signos y síntomas del hipotiroidismo adquirido son similares a los adultos y, en general, no se asocia con compromiso del desarrollo neuromadurativo.La presunción clínica se confirma con niveles elevados de tirotrofina y disminuidos de tiroxina libre. Las metas del tratamiento incluyen lograr adecuado crecimiento, maduración sexual, desarrollo neuromadurativo y cognitivo óptimo. En la mayoría de los pacientes, el tratamiento de reemplazo revierte los signos y síntomas.

Hypothyroidism is the most frequent thyroid dysfunction. It is the consequence of a decrease in the biological activity of thyroid hormones in target tissues. The aim of this paper is to review and update acquired hypothyroidism in childhood and adolescence with emphasis on primary hypothyroidism due to its greater frequency. Hashimoto's thyroiditis, also known as chronic lymphocytic thyroiditis, is the most common cause of primary acquired hypothyroidism. The distinctive feature is the profound impact on skeletal growth, maturation, and pubertal development, with potential implications on adult height. Signs and symptoms of acquired hypothyroidism are similar to those reported in adults and are generally not associated with neurodevelopmental impairment. Biochemi confirmation of primary hypothyroidism requires the finding of elevated thyrophine and decreased free thyroxine levels. Treatment goals are to achieve normal growth and maturation as well as cognitive development. In most of the patients, replacement treatment reverses symptoms and signs of hypothyroidism and may decrease goiter size.

Humans , Male , Female , Child , Adolescent , Hypothyroidism/diagnosis , Hypothyroidism/therapy , Hashimoto Disease , Goiter , Hypothyroidism/etiology
Article in English | WPRIM | ID: wpr-887764


Hypothyroidism is a common endocrine disease with reduced systemic metabolism, but the initial diagnosis is rare in oral and maxillofacial surgery. Due to the nonspecific symptoms, it is easy to be misdiagnosed and missed diagnosis which results in serious consequences. This paper presents a case of severe hypothyroidism which was characterized by airway obstruction, facial swelling, unexplained anaemia and bipedal edema after orthognathic surgery. With review of relevant literatures, this article discusses the risk factors, symptoms, diagnosis and therapy of hypothyroidism.

Edema , Facial Bones , Humans , Hypothyroidism/etiology , Orthognathic Surgery , Orthognathic Surgical Procedures
Arch. endocrinol. metab. (Online) ; 64(5): 507-513, Sept.-Oct. 2020. tab, graf
Article in English | LILACS | ID: biblio-1131122


ABSTRACT As pregnant women are susceptible to changes in iodine, which can cause miscarriage, goiter, thyroid nodules, hypothyroidism, in addition to fetal neurological impairment or development. The aim of this study was to verify the implications of the iodine alteration in each gestational trimester and its consequences of physiological justification. The review was based on PRISMA. Searching for articles that took place in March 2020 without delimiting data. As bases consulted were the Clinical Trials, Cochrane Library, Lilacs and Medline (PubMed). The descriptors were combined as follows: "pregnancy" AND "iodine deficiency". Articles that addressed iodine deficiency and its implications were included. The selection followed the steps of reading the titles, abstracts and full articles. To assess the methodological quality of the studies, the STROBE Instruction instrument was used. The research resulted in 1,266 studies and 11 were included. In assessing methodological quality, the lowest score was and the maximum 20. According to studies, the fourth most affected by iodine loss are the second and third, it is possible to increase the volume and pneumatic nodules, subclinical hypothyroidism, pre-eclampsia, among others. The damages caused by iodine deficiency in the first or second trimester are still reversible, therefore, they need to be diagnosed early, to guarantee an iodic homeostasis and prevent damage to the health of the mother-child binomial.

Humans , Pregnancy , Child , Pregnancy Complications/etiology , Goiter , Hypothyroidism/etiology , Iodine , Pregnancy Trimesters
Rev. chil. pediatr ; 91(3): 379-384, jun. 2020. tab
Article in Spanish | LILACS | ID: biblio-1126175


Resumen: Introducción: El tratamiento del neuroblastoma en estadios avanzados incluye quimioterapia, cirugía y terapia con I131-Metayodo benzilguanidina (I131-MIBG). La disfunción tiroidea se reporta entre 12 y 85% a pesar de la protección tiroidea. Objetivo: Identificar la frecuencia de disfunción tiroidea en casos de neu roblastoma tratados con I131-MIBG. Pacientes y Método: Estudio transversal. Se incluyeron todos los casos con diagnóstico de neuroblastoma que recibieron I131-MIBG en el periodo de 2002-2015, a los cuales se les realizó antropometría completa, perfil de tiroides: hormona estimulante de tiroides (TSH), Triyodotironina total y libre (T3t y T3l), tiroxina total y libre (T4t, T4l), y anticuerpos antitiroglobulina y antiperoxidasa. Resultados: Se identificaron un total de 27 pacientes; once fallecieron (40%). De los 16 casos sobrevivientes, 9 (56%) presentaron disfunción tiroidea: 2 (13%) casos con hipotiroidismo subclínico y 7 (44%) casos con hipotiroidismo clínico (3 casos por retraso en el desa rrollo psicomotor y 4 por desaceleración del crecimiento). Los pacientes presentaron manifestaciones clínicas a los 16,1 meses (1,2-66,3 meses) de recibir el radiofármaco a una dosis acumulada de 142 mCi (96-391.5 mCi). No se logró evidenciar diferencias en la edad al diagnóstico, la edad al inicio del tratamiento con el I131-MIBG, la dosis acumulada del I131-MIBG y el tiempo trascurrido entre la dosis y el perfil tiroideo entre los casos con o sin disfunción tiroidea. Conclusiones: El 56% de los pacientes con neuroblastoma presentaron disfunción tiroidea. La mayoría de los casos con hipotiroidismo fue ron referidos cuando los datos de disfunción tiroidea eran clínicamente evidentes. Se propone en esta poblacion realizar perfil tiroideo semestral y valoración anual por un endocrinólogo pediatra durante los primeros 5 años posteriores al diagnóstico oncológico.

Abstract: Introduction: The treatment of advanced neuroblastoma includes chemotherapy, surgery, and radiotherapy with 131-I-Metaiodobenzylguanidine (131-I-MIBG). Despite strategies to protect thyroid function, its dysfunction is reported between 12 and 85%. Objective: To identify the frequency of thyroid dys function in cases of neuroblastoma treated with 131-I-MIBG. Patients and Method: Cross-sectional study. We included all the cases with neuroblastoma treated with 131-I-MIBG between 2002 and 2015, with complete somatometry, and complete thyroid profile (TSH, free and total T3 and T4, and anti-thyroglobulin and antiperoxidase antibodies). Results: 27 patients were identified out of which eleven died (40%). Out of the 16 surviving cases, 9 (56%) presented thyroid dysfunction: 2 (13%) cases with subclinical hypothyroidism and 7 (44%) cases with clinical hypothyroidism (3 cases due to psychomotor developmental delay and 4 due to growth deceleration). The patients presented cli nical manifestations at 16.1 months (1.2-66.3 months) after receiving the radiopharmaceutical at acumulative dose of 142 mCi (96-391.5 mCi). No differences were found in the age at diagnosis, age at the start of treatment with 131-I-MIBG, the cumulative dose of 131-I-MIBG, and the time elapsed between the dose and the thyroid profile among the cases with or without thyroid dysfunction. Con clusions: 56% of patients with neuroblastoma had thyroid dysfunction. Most of the cases with hypothyroidism were referred when thyroid dysfunction was clinically evident. A thyroid profile should be performed every 6 months, along with an annual endocrinological evaluation during the next 5 years in these patients.

Humans , Male , Female , Infant , Child, Preschool , Child , Radiopharmaceuticals/adverse effects , 3-Iodobenzylguanidine/adverse effects , Hypothyroidism/etiology , Iodine Radioisotopes/adverse effects , Neuroblastoma/radiotherapy , Thyroid Diseases , Cross-Sectional Studies , Retrospective Studies , Risk Factors , Radiopharmaceuticals/therapeutic use , 3-Iodobenzylguanidine/therapeutic use , Hypothyroidism/diagnosis , Hypothyroidism/epidemiology , Iodine Radioisotopes/therapeutic use
Arch. endocrinol. metab. (Online) ; 64(3): 306-311, May-June 2020. tab
Article in English | LILACS | ID: biblio-1131096


ABSTRACT Objective Ultrasound assessment plays an important role in the diagnosis, and monitoring of subacute thyroiditis (SAT). However, the relationship between ultrasonographic findings and severity or prognosis of the disease is not known. The aim of the present study was to evaluate the relationship between bilateral and unilateral disease involvement and severity and prognosis of the disease. Subjects and methods The initial laboratory values, ultrasonographic findings and long-term outcomes of 247 SAT patients were evaluated retrospectively. Results In the ultrasonographic evaluation, bilateral involvement was detected in 154 patients, and unilateral involvement in 93 patients at the time of diagnosis. No significant difference was found between patients with bilateral or unilateral disease at the time of diagnosis in respect of the initial acute phase reactants. FT4 was significantly higher and TSH was significantly lower in the group with bilateral disease. Bilobar or unilobar disease on ultrasound at the time of diagnosis was not found to be a risk factor for permanent hypothyroidism or recurrence. The mean thyroid volume was determined to be 22.5 ± 10 cm3 at the beginning of treatment, and 11.2 ± 8 cm3 at the end of treatment. The initial thyroid volume and the thyroid volume at the end of treatment were significantly lower in patients who developed hypothyroidism. Conclusion There was no relationship between initial acute phase reactants and bilateral or unilateral involvement of the disease. FT4 levels were found to be associated with the extension of the disease. The risk of recurrence and permanent hypothyroidism are not associated with the initial ultrasonographic aspect. Arch Endocrinol Metab. 2020;64(3):306-11

Humans , Male , Female , Adult , Thyroiditis, Subacute/diagnostic imaging , Hypothyroidism/etiology , Prognosis , Recurrence , Severity of Illness Index , Thyroiditis, Subacute/complications , Retrospective Studies , Ultrasonography , Middle Aged
Arch. endocrinol. metab. (Online) ; 64(3): 269-275, May-June 2020. tab, graf
Article in English | LILACS | ID: biblio-1131093


ABSTRACT Objective Acromegaly is characterized by high neoplastic morbidity as a side effect of growth hormone (GH) hypersecretion. Increased incidence of goiter, thyroid carcinoma, and thyroid dysfunction is also reported. The aim of the present study was to find the prevalence of thyroid dysfunction and goiter in patients with acromegaly and determine its relationship to disease activity, disease duration, and the presence of secondary hypothyroidism. Subjects and methods In a cross-sectional study of the period 2008-2012 were included 146 patients with acromegaly (56 men, 90 women) of mean age 50.3 ± 12.4 years. Acromegaly disease activity and thyroid function were evaluated in all patients. Thyroid ultrasonography was performed to calculate thyroid volume and detect the presence of nodular goiter. Results Ninety-one patients were determined to have an active disease, and 55, a controlled disease. The mean thyroid volume in patients without previous thyroid surgery was 37.6 ± 38.8 mL. According to disease activity, thyroid volume was significantly higher in patients with active disease (38.5 ± 45.4 mL vs. 27.2 ± 18.4 mL, p = 0.036). A weak positive correlation was found between thyroid volume and insulin-like growth factor 1 (IGF-1) in the whole group and in females (R = 0.218; p = 0.013, and R = 0.238; p = 0.037, respectively). There was no significant correlation of thyroid volume with disease duration and GH level in the whole group and in both sexes. The patients with secondary hypothyroidism had twofold smaller thyroid volume, relative to the rest of the group. The prevalence of thyroid dysfunction was 39%, with a female to male percentage ratio of 1.73. Goiter was diagnosed in 87% of patients, including diffuse goiter (17.1%) and nodular (69.9%), with no significant difference between patients with active and controlled disease or the presence of secondary hypothyroidism. Conclusions Thyroid volume in patients with acromegaly depends on disease activity and the presence of secondary hypothyroidism as a complication. The increased prevalence of nodular goiter determines the need of regular ultrasound thyroid evaluation in the follow-up of patients with acromegaly. Arch Endocrinol Metab. 2020;64(3):269-75

Humans , Male , Female , Adult , Thyroid Gland/physiopathology , Acromegaly/complications , Goiter, Nodular/physiopathology , Hypothyroidism/physiopathology , Thyroid Function Tests , Thyroid Gland/diagnostic imaging , Thyroid Hormones/blood , Acromegaly/physiopathology , Cross-Sectional Studies , Ultrasonography , Goiter, Nodular/diagnosis , Hypothyroidism/etiology , Hypothyroidism/diagnostic imaging , Middle Aged
Arch. endocrinol. metab. (Online) ; 64(3): 223-234, May-June 2020. tab
Article in English | LILACS | ID: biblio-1131088


ABSTRACT Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of gene expression in the 15q11.2-q13 paternal chromosome. Patients with PWS develop hypothalamic dysfunction that can lead to various endocrine changes such as: obesity, growth hormone deficiency, hypogonadism, hypothyroidism, adrenal insufficiency and low bone mineral density. In addition, individuals with PWS have increased risk of developing type 2 diabetes mellitus. This review summarizes and updates the current knowledge about the prevention, diagnosis and treatment of endocrine manifestations associated with Prader Willi syndrome, especially diagnosis of growth hormone deficiency, management and monitoring of adverse effects; diagnosis of central adrenal insufficiency and management in stressful situations; screening for central hypothyroidism; research and treatment of hypogonadism; prevention and treatment of disorders of glucose metabolism. Careful attention to the endocrine aspects of PWS contributes significantly to the health of these individuals. Arch Endocrinol Metab. 2020;64(3):223-34

Humans , Prader-Willi Syndrome/complications , Prader-Willi Syndrome/diagnosis , Prader-Willi Syndrome/genetics , Diabetes Mellitus/etiology , Hypogonadism/etiology , Hypothyroidism/etiology , Obesity/etiology
Medicina (B.Aires) ; 79(1): 11-19, feb. 2019. graf, tab
Article in Spanish | LILACS | ID: biblio-1002582


El hipotiroidismo subclínico (HS), elevación de tirotrofina con hormonas tiroideas normales, junto al bocio, aumentó la frecuencia en las últimas décadas. Con el objetivo de relacionar la prevalencia de bocio y HS con el consumo de agua subterránea como factor de riesgo etiológico poblacional, se analizaron 879 historias clínicas de un centro médico de Glew, en el conurbano bonaerense Sur. Se estudió la población según edad (20-60 y 12-19 años) y tipo de agua consumida (potabilizada o napa subterránea). El agua subterránea fue consumida por el 70.5% del grupo de 20 a 60 años (n = 559, 79.9% mujeres) y por el 66.3% del grupo de 12 a 19 años (n = 57, 81.4% mujeres). En el grupo de 20 a 60 años la prevalencia de HS en consumidores de agua potabilizada y subterránea fue del 1% y 57.8% (p < 0.0001) y la de bocio de 3.8% y 38.9% (p < 0.0001), respectivamente; con un riesgo atribuible al agua subterránea de 57% para HS y 35% para bocio. En el grupo de 12 a 19 años, la prevalencia de HS fue 6.9% y 52.6% (p < 0.0001) y de bocio 13.8% y 77.2% para los grupos de agua potabilizada y subterránea, (p < 0.0001) respectivamente; con un riesgo atribuible al agua subterránea de 46% para HS y 61% para bocio. El análisis fisicoquímico mostró presencia de nitratos (entre 24 y 83 mg/l) en aguas de pozos y ausencia en agua potable. La prevalencia aumentada de HS y bocio podrían deberse a la acción disruptora tiroidea de los nitratos.

Subclinical hypothyroidism (SH), elevation of the level of thyrotrophin with normal thyroid hormones, along with goiter (glandular size > 25g), increased in recent decades. In order to relate the prevalence of goiter and SH with the consumption of groundwater, as a population etiological risk factor, we analyzed 879 clinical histories from a medical center in the city of Glew in the South Buenos Aires suburbs. The population was studied according to age (20 to 60 and 12 to 19 years) and type of water consumed (potable water or groundwater). Groundwater was consumed by 70.5% of the group from 20 to 60 years old (n = 559, 79.9% women) and by 66.3% of the group from 12 to 19 years old (n = 57, 81.4% women In the group of 20 to 60 years, the prevalence of SH in potable water and groundwater users was 1% and 57.8% (p < 0.0001) and the goiter rate of 3.8% and 38.9% (p < 0.0001) respectively; with an attributable risk to groundwater of 57% for HS, and 35% for goiter In the group of 12 to 19 years, the prevalence of SH was 6.9% and 52.6% (p < 0.0001) and goiter 13.8% and 77.2% for the water and groundwater groups (p>0.0001) respectively, with an attributable risk of 46% for HS y 61% for goiter. The physicochemical analysis showed the presence of nitrates in the range of 24 to 83 mg/l in groundwater and absence in potable water. The increased prevalence of HS and goiter could be due to the thyroid disrupting action of nitrates.

Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Young Adult , Drinking Water/chemistry , Groundwater/chemistry , Waterborne Diseases/etiology , Goiter/etiology , Hypothyroidism/etiology , Argentina/epidemiology , Water Quality , Thyrotropin/blood , Prevalence , Cross-Sectional Studies , Risk Factors , Analysis of Variance , Sex Distribution , Age Distribution , Statistics, Nonparametric , Waterborne Diseases/epidemiology , Goiter/epidemiology , Hypothyroidism/epidemiology , Nitrates/analysis
Evid. actual. práct. ambul ; 22(4): e002015, 2019.
Article in Spanish | LILACS | ID: biblio-1052839


El hipotiroidismo subclínico suele ser identificado como un cuadro que disminuye la capacidad reproductiva de las mujeresy está asociado a un riesgo aumentado de complicaciones perinatales. A partir de un caso clínico real, revisamos laevidencia disponible y encontramos que existen pruebas que contradicen este conocimiento tradicional sobre el pronósticoy la necesidad de tratamiento de este cuadro. (AU)

Subclinical hypothyroidism is usually identified as a condition that decreases the reproductive capacity of women and isassociated with a higher risk of perinatal complications. From a real clinical case, we review the available evidence andfound that there is evidence that contradicts this traditional knowledge about the prognosis and the need for treatment ofthis condition. (AU)

Humans , Female , Pregnancy , Adolescent , Adult , Young Adult , Reproduction , Hypothyroidism/embryology , Hypothyroidism/drug therapy , Quality of Life , Thyroxine/adverse effects , Thyroxine/therapeutic use , Perinatal Mortality/trends , Reproductive Physiological Phenomena , Patient Preference , Fertility , Hypothyroidism/etiology , Hypothyroidism/genetics
Arch. endocrinol. metab. (Online) ; 62(6): 655-660, Dec. 2018. tab
Article in English | LILACS | ID: biblio-983808


SUMMARY Short bowel syndrome (SBS) is the leading cause of intestinal failure in children, a condition of absence of sufficient bowel to meet the nutritional and metabolic needs of a growing individual. The treatment of patients in this situation is based on the association of parenteral and enteral nutrition for prolonged periods of time until intestinal rehabilitation occurs with complete enteral nutrition autonomy. Six consecutive cases of children with SBS (residual intestinal length of 5 cm to 75 cm) were managed with this program and were diagnosed with associated hypothyroidism during the treatment (ages at the diagnosis 5 months to 12 years). All patients were successfully treated with oral hormone reposition therapy and in one patient, the replacement was performed via rectal enemas due to a complete absence of small bowel. Although iodine deficiency associated to long-term parenteral nutrition is a well-known condition, this is the first report in the literature about an expressive number of patients with hypothyroidism detected in patients with SBS during the prolonged treatment for intestinal rehabilitation.

Humans , Infant , Child, Preschool , Child , Adolescent , Short Bowel Syndrome/complications , Hypothyroidism/etiology , Short Bowel Syndrome/therapy , Treatment Outcome , Enteral Nutrition , Parenteral Nutrition , Hormone Replacement Therapy , Hypothyroidism/therapy , Iodine/deficiency , Iodine/therapeutic use
Rev. salud pública ; 20(2): 215-220, mar.-abr. 2018. tab
Article in Spanish | LILACS | ID: biblio-978976


RESUMEN Objetivos Determinar relación entre hipotiroidismo y plaguicidas en sangre. Metodología Estudio de corte transversal, en agricultores y sus compañeros(as) permanentes en municipios productores de plátano y café. Se calculó muestra representativa. Se realizaron pruebas de función tiroidea, se utilizó un lector de ELISA Stat Fax 303/Plus, en una longitud de onda 450 nm. Se determinó la residualidad de plaguicidas organoclorados, se implementó un método de microextracción dispersiva en fase líquida (DLLME) asistida por sonicación, y se empleó cromatografía de gases con detector de micro captura de electrones (GC-µECD) para el análisis. Resultados Se incluyeron 819 participantes, 58,7% hombres y 41,3% mujeres; promedio de edad 48,1 años. Prevalencia de hipotiroidismo manifiesto 1,2% y de hipotiroidismo subclínico 6,7%, mayor prevalencia en personas mayores de 60 años (2,6% y 8,9% respectivamente). Se encontró asociación no causal de hipotiroidismo subclínico con plaguicidas organoclorados 4,4'-DDE (sig.0,006), Heptacloro (sig.0,04), y Endosulfán I (sig.0,02). Los anticuerpos antiperoxidasa (Anti TPO) ≥ 60 lU/ml se asociaron con h. subclínico, OR 2,6. Conclusiones La prevalencia de hipotiroidismo hallada es similar a lo referido en la literatura, es menor que en áreas urbanas; la prevalencia de hipotiroidismo subclínico es mayor y con riesgo de progresión a hipotiroidismo franco cuando se relaciona con Anti-TPO positivos, razón por la cual se requiere seguimiento en estos pacientes. Se asociaron a h. subclínico 3 plaguicidas organoclorados. Se recomienda tamizaje de TSH en personas de 40 y más años sobre todo si están expuestas a los agroquímicos mencionados.(AU)

ABSTRACT Objectives To establish the correlation between hypothyroidism and blood pesticide levels. Materials and Methods Cross-sectional study in agricultural workers and their permanent partners in plantain and coffee producing municipalities as reference population. A representative sample was estimated and thyroid function tests were performed using ELISA Stat Fax 303/Plus reader, at a wavelength of 450 nm. Organochlorine pesticide residuality was determined, a dispersive liquid-liquid microextraction (DLLME) assisted by sonication was implemented, and a gas chromatography-micro-electron capture detector (GC-pECD) was used for the analysis. Results 819 participants, 58.7% men and 41.3% women were included; their average age was 48.1 years. Prevalence of symptomatic hypothyroidism (1.2%) and subclinical hypothyroidism (6.7%) was observed, with a higher prevalence in people older than 60 years (2.6% and 8.9%, respectively). Non-causal association was found between subclinical hypothyroidism and the organochlorine pesticides 4,4'-DDE (sig.0,006), Heptachlor (sig.0,04), and Endosulfan I (sig.0,02). Antiperoxidase (Anti TPO) antibodies ≥60 lU/ml were associated with subclinical hypothyroidism (OR 2.6). Conclusions The prevalence of hypothyroidism in the studied population is similar to that reported in the literature, and lower than in urban areas. In turn, the prevalence of subclinical hypothyroidism is higher and positive anti-TPO values are related to risk of progression to frank hypothyroidism, which is why follow-up is required in these patients. Three organochlorine pesticides were associated with subclinical hypothyroidism. TSH screening is recommended in people aged 40 and over, especially if they are exposed to the aforementioned agrochemicals.(AU)

Humans , Endocrine Disruptors , Insecticides, Organochlorine/adverse effects , Hypothyroidism/etiology , Cross-Sectional Studies/instrumentation , Cohort Studies , Colombia , Endosulfan/blood , Heptachlor/blood
Rev. chil. pediatr ; 89(1): 107-112, feb. 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-900077


Resumen: Introducción: El síndrome de Nail-Patella (NPS) es un desorden autosómico dominante caracterizado por anomalías esqueléticas, displasia ungueal, alteraciones renales y oculares. El diagnóstico se sospecha con la clínica y radiología y se confirma por la identificación de una variante patogénica en el gen LMX1B. El manejo de estos pacientes implica un seguimiento continuo y el tratamiento de las posibles complicaciones ortopédicas, oculares y renales. Objetivo: Describir un caso de NPS con talla baja e hipotiroidismo, asociación que no ha sido descrita en la literatura. Caso clínico: Adolescente de 11 años con talla 130 cm (-2,01 Desviaciones Estándar [DE]) fue referido a Endocrinología a los 2 años de edad por pruebas tiroideas alteradas. Se detectaron uñas displásicas y talla baja despro porcionada, además de anormalidades radiológicas sugerentes de displasia esquelética. Se confirmó hipotiroidismo primario, con anticuerpos negativos y ecografía normal, por lo que se inició trata miento con levotiroxina. El diagnóstico de NPS fue confirmado mediante estudio genético de ADN constatándose una variante patogénica en el gen LMX1B. Su padre presentaba un fenotipo similar, con estatura normal. Su edad ósea era acorde con la cronológica. Tanto el estudio general de talla baja como un test de clonidina para estimulación de GH fueron normales. Conclusión: Presentamos un paciente con NPS confirmado, asociado a talla baja e hipotiroidismo. No hallamos publicaciones en la literatura que describieran esta triple asociación. No se descarta que podría haber una relación entre el NPS y las alteraciones tiroideas halladas en este paciente.

Abstract: Background: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur. Objective: To describe a case of NPS with short stature and hypothyroidism, an association that has not been described in the literature. Case report: An eleven-year-old boy with a height of 130 cm (-2.01 Stan dard Deviations [SD]) was referred to the Endocrine Unit at the age of 2 years due to altered thyroid tests. At that time, dysplastic nails and disproportionate short stature were detected. Radiological abnormalities initially suggested a skeletal dysplasia. A primary hypothyroidism was confirmed, without anti-thyroid antibodies and with a normal thyroid ultrasound. Levothyroxine treatment was initiated. The diagnosis of NPS was confirmed by a genetic study with a single pathogenic variant in the LMX1B gene. His father presented a similar phenotype with normal stature. His bone age was equivalent to his chronological age. Laboratory screening for short stature and a GH stimulation test were normal. Conclusion: We present a child with proven NPS with short stature and hypothyroi dism. We did not find publications that described this triple association. It can't be ruled out that there could be a relationship between NPS and the thyroid alterations found in this patient.

Humans , Male , Child , Growth Disorders/etiology , Hypothyroidism/etiology , Nail-Patella Syndrome/diagnosis , Nail-Patella Syndrome/complications
Rev. bras. ginecol. obstet ; 39(5): 224-228, May 2017. tab, graf
Article in English | LILACS | ID: biblio-898861


Abstract Objective This study analyzed the effectiveness of the thyroid-stimulating hormone (TSH) as a predictor of insulin resistance (IR) and its association with the clinical and metabolic parameters of women with polycystic ovary syndrome (PCOS) without overt hypothyroidism. Study Design A cross-sectional study was performed. Women with PCOS and without overt hypothyroidism (n = 168) were included. Methods Receiver operating characteristic (ROC) curve was used to determine the cut-off point for TSH that would maximize sensitivity and specificity for a diagnosis of IR using homeostatic model assessment of insulin resistance (HOMA-IR)≥ 2.71. Clinical and metabolic parameters were compared as a function of the TSH cut-off limit and the presence of IR. Results Thyroid-stimulating hormone ≥ 2.77 mIU/L was associated with a diagnosis of IR, with sensitivity of 47.9% and specificity of 65.3%. There were no differences in clinical, hormonal or metabolic parameters between TSH < 2.77 and TSH of 2.77 - 10 mIU/L. Conclusion In women with PCOS without overt hypothyroidism, TSH ≥2.77 mIU/L is associated with IR; however, with poor sensibility, showing TSH to be a poor predictor of IR in this population. No clinical or metabolic alterations were found that would justify a change in clinical management. Thus, the IR should be investigated in all women with PCOS irrespective of TSH level.

Resumo Objetivo Este estudo analisou a efetividade do hormônio tireoestimulante (TSH) como preditor da resistência insulínica (IR), bem como a associação do TSH com os parâmetros clínicos e metabólicos de mulheres com síndrome do ovário policístico (PCOS) sem hipotireoidismo clínico. Desenho do Estudo Estudo de corte transversal com inclusão de mulheres com PCOS e sem hipotireoidismo clínico (n =168). Métodos Utilizou-se análise através de curva ROC (Receiver operating characteristic) para determinar o valor de corte para o nível sérico de TSH que poderia maximizar a sensibilidade e especificidade para o diagnóstico de IR considerada com avaliação da homeostase de resistência insulínica (HOMA-IR) ≥ 2.71. Parâmetros clínicos e metabólicos foram comparados de acordo com o ponto de corte de TSH determinado e com a presença de IR. Resultados Níveis séricos de TSH ≥2.77 mIU/L estiveram associados com o diagnóstico de IR, com sensibilidade de 47.9% e especificidade de 65.3%. Não foram evidenciadas diferenças nos parâmetros clínicos, hormonais e metabólicos quando TSH < 2.77 ou TSH de 2.77 - 10 mIU/L. Conclusão Em mulheres com PCOS sem hipotireoidismo, TSH ≥2.77 mIU/L está associado a IR, porém com baixa sensibilidade, mostrando que a dosagem de TSH não é um bom preditor de IR nesta população. Também não se evidenciou alteração clínica ou metabólica que justificasse alteração na investigação desta população. Assim, a resistência insulínica deve ser investigada em todas as mulheres com PCOS, independente dos níveis séricos de TSH.

Humans , Female , Young Adult , Polycystic Ovary Syndrome/metabolism , Insulin Resistance , Thyrotropin/blood , Polycystic Ovary Syndrome/complications , Polycystic Ovary Syndrome/blood , Cross-Sectional Studies , Hypothyroidism/etiology
Einstein (Säo Paulo) ; 14(1): 71-76, Jan.-Mar. 2016. tab
Article in English | LILACS | ID: lil-778500


We aimed to identify the late effects of radiation exposure in pediatric cancer survivors. An integrated literature review was performed in the databases MEDLINE and LILACS and SciELO. Included were articles in Portuguese and English, published over the past 10 years, using the following keywords: “neoplasias/neoplasms” AND “radioterapia/radiotherapy” AND “radiação/radiation”. After analysis, 14 articles - published in nine well-known journals - met the inclusion criteria. The publications were divided into two categories: “Late endocrine effects” and “Late non-endocrine effects”. Considering the increased survival rates in children who had cancer, the impact of late effects of exposure to radiation during radiological examinations for diagnosis and treatment was analyzed. Childhood cancer survivors were exposed to several late effects and should be early and regularly followed up, even when exposed to low radiation doses.

Objetivamos identificar os efeitos tardios da exposição à radiação em crianças sobreviventes do câncer. Foi realizada uma revisão integrativa de literatura, nas bases de dados MEDLINE e LILACS, e no suporte eletrônico SciELO. Foram incluídos artigos nos idiomas português e inglês, publicados nos últimos 10 anos, utilizando os descritores “neoplasias/neoplasms” AND “radioterapia/radiotherapy” AND “radiação/radiation”. Após análise, 14 artigos, publicados em nove revistas conceituadas, atenderam os critérios de inclusão. As publicações foram divididas em duas categorias: “Efeitos tardios endócrinos” e “Efeitos tardios não endócrinos”. Com o aumento nas taxas de sobrevida em crianças sobreviventes do câncer, foi observado o impacto dos efeitos tardios referentes à exposição da radiação, e decorrentes do tratamento e de exames radiodiagnósticos. Sobreviventes de câncer na infância estiveram expostos a diversos efeitos tardios e devem ter um seguimento precoce e regular, ainda que expostos a doses baixas de radiação.

Humans , Child , Radiation Injuries/complications , Survivors , Hypothyroidism/etiology , Neoplasms/radiotherapy , Time Factors
Med. interna (Caracas) ; 32(2): 115-123, 2016. tab, graf
Article in Spanish | LILACS, LIVECS | ID: biblio-1009545


Se realizó un estudio de corte trasversal para caracterizar los factores predisponentes de disfunción tiroidea; la población de estudio fue de 100 pacientes adultos entre 18 y 80 años, portadores de patologías tiroideas que asistieron a la consulta externa de Medicina Interna del Hospital Central Universitario Dr. "Antonio María Pineda" de Barquisimeto, Estado Lara, en el período julio - octubre 2015, la compilación de los datos se hizo a través de la aplicación de una encuesta lo que permitió establecer datos de referencia regional en cuanto a la prevalencia de las enfermedades tiroideas, e identificar la influencia de la herencia, el ambiente, la nutrición y el uso de fármacos; sobre los mecanismo fisiológicos de la función tiroidea de la población en estudio. ; y así establecer bases para la posterior creación de programas sanitarios dirigidos a la prevención y tratamiento de las enfermedades de la glándula tiroides(AU)

A transversal study was done to characterize predisposing factors for thyroid dysfunction; the study population was 100 outpatients between 18 and 80 years, carriers of thyroid disease at the department of Internal Medicine Hospital Dr. "Antonio Maria Pineda", Barquisimeto,Venezuela between July and October 2015. A survey was applied allowing for regional reference data regarding the prevalence of thyroid diseases, to identify the influence of heredity, environment, nutrition, and medication use on the physiological mechanismof thyroid function of the study population; also to establish foundations for the subsequent creation of health programs for the prevention and treatment of diseases of the thyroid gland(AU)

Humans , Male , Female , Thyroid Gland/physiopathology , Hyperthyroidism/etiology , Hypothyroidism/etiology , Thyroid Diseases , Endocrine System/physiopathology , Internal Medicine
Medicina (B.Aires) ; 74(4): 315-320, ago. 2014. tab
Article in Spanish | LILACS | ID: lil-734392


Los pacientes con infección por el virus de inmunodeficiencia humana (HIV) tienen una mayor prevalencia de disfunción tiroidea cuando se los compara con la población general. Las manifestaciones más frecuentemente observadas son: el síndrome del eutiroideo enfermo, la enfermedad de Graves y el hipotiroidismo subclínico. La relación entre el uso de la terapia antirretroviral y el incremento en la prevalencia de alteraciones tiroideas fue demostrada en varias series de pacientes. La enfermedad de Graves se reconoce claramente como una consecuencia del síndrome de restitución inmune. Además, existen estudios que sugieren una relación entre hipotiroidismo y el uso de inhibidores nucleósidos de la transcriptasa reversa, en particular estavudina y el inhibidor no nucleósido de la transcriptasa reversa efavirenz. Nuevos estudios podrán aportar evidencia adicional sobre la necesidad de evaluaciones rutinarias de la función tiroidea en pacientes infectados por HIV.

Patients infected with human immunodeficiency virus (HIV) have a higher prevalence of thyroid dysfunction when compared with the general population. The most frequently observed manifestations are euthyroid sick syndrome, Graves´ disease and subclinical hypothyroidism. The relationship between the use of highly active antiretroviral therapy and the increased prevalence of thyroid dysfunction has been demonstrated in several series of patients. Grave’s disease is recognized as a consequence of immune restitution syndrome. Besides, several studies have suggested an association between hypothyroidism and the use of nucleoside reverse transcriptase inhibitors, particularly stavudine and non-nucleoside reverse transcriptase inhibitors such as efavirenz. Further studies could provide additional evidence of the need for routine assessment of thyroid function in HIV-infected patients.

Humans , Euthyroid Sick Syndromes/etiology , Graves Disease/etiology , HIV Infections/complications , Hypothyroidism/etiology , Immune Reconstitution Inflammatory Syndrome/complications , Antiretroviral Therapy, Highly Active/adverse effects , Euthyroid Sick Syndromes/epidemiology , Graves Disease/epidemiology , Hypothyroidism/epidemiology , Prevalence , Thyroid Diseases/complications , Thyroid Diseases/epidemiology
Hosp. Aeronáut. Cent ; 9(1): 34-8, 2014. ilus, graf
Article in Spanish | LILACS | ID: lil-778032


Introducción: La enfermedad tiroidea autoinmune (EAT) causa daño celular y altera la función tiroidea por acción de los anticuerpos antitiroperoxidasa (ATPO) y antitiroglobulina (ATg).Estudios longitudinales demuestran que personas con tirotrofina (TSH) entre 2,5 a 4,5 mU/L y autoanticuerpos tiroideos (ATPO y ATg) positivos tienen un riesgo aumentado de desarrollar hipotiroidismo franco, definiendo a esta población como una categoría de riesgo intermedio. Objetivo: destacar la importancia de la detección de anticuerpos antitiroideos en la población con TSH entre 2,5 a 4,5 mU/L y conocer su prevalencia en la población del Hospital Aeronáutico Córdoba. Materiales y métodos: se midió ATPO y ATg a 216 muestras depacientes mayores a 20 años con TSH entre 2,5 a 4,5 mU/L que concurrieron al laboratorio del Hospital Aeronáutico Córdoba y se excluyeron a las mujeres embarazadas, aquellos pacientes condopajes previos de TSH mayores a 2,5 mU/L y aquellos bajo tratamiento con levotiroxina. Las determinaciones se realizaron por el inmunoanálisis quimioluminiscente de micropartículas (CMIA). Resultados: se observó mayor prevalencia del sexo femenino, aumentando con la edad y la presencia de un 30% de pacientes con anticuerpos antitiroideos positivos en la población estudiada Se demostró que es más frecuente la presencia de ATPO que de ATg y que no hay diferencia significativa entre el dosaje de ATPOy ATg en conjunto y ATPO como única medida. Conclusiones: se recomienda valorar la presencia de anticuerpos antitiroideos, principalmente ATPO, en las poblaciones más susceptibles: pacientes con TSH entre 2,5 – 4,5mU/L, mujeres mayores a 60 años y embarazadas.

Introduction: Autoimmune thyroid disease (EAT) causes cellulardamage and alters thyroid function by the action of anti thyroid peroxidase antibodies (ATPO) and anti thyroglobulin(ATg). Longitudinal studies show that people with thyrotropin (TSH) between 2.5 to 4.5 mU/L and positive thyroid autoantibodies (ATPO and ATg) have an increased risk of developing overthypothyroidism, defined this population as intermediate risk category.Objective: Highlight the importance of the detection of antithyroid antibodies in the population with TSH between 2.5 to 4.5 mU/L and determine their prevalence in the population of HospitalAeronáutico Córdoba. Materials and methods: We measured ATg and ATPO in 216 samples of patients aged over 20 years with TSH between 2.5 to 4.5 mU/L who attended the Hospital Aeronáutico Córdoba laboratory and excluded pregnant women, patients with previousdoping TSH greater than 2.5 mU/L and those treated with levothyroxine. Determinations were performed by thechemiluminescent microparticle immunoassay (CMIA). Results: We observed a higher prevalence of female gender, increasing with age and the presence of 30% of patients withpositive antithyroid antibodies in this population. We proved that ATPO is more frequent than ATg and there was no significant.

Humans , Hypothyroidism/etiology , Thyroid Diseases
Article in English | IMSEAR | ID: sea-157556


Diamond Black fan Anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. The DBA patients have low red blood cell count (Anaemia). The rest of their blood cells (Platelets & WBCs) are normal. We present a 14 month old male child who presented with severe anaemia. The patient was transfusion dependent since 4 months of age. Clinical examination revealed delayed mile stones and a couple of congenital deformities. Haematological parameters showed elevated foetal haemoglobin level (Hb F – 11.8% ) and elevated serum TSH (thyroid stimulating hormone) level. Peripheral blood picture showed gross microcytic hypochromic red blood cells and absence of reticulocytes with normal levels of leucocytes and platelets. A bone marrow showed gross suppression of Erythroid series with M:E ratio of 30:1. Some large pronormoblasts were found. Family history was not significant. Compiling the clinical features, haematological parameters, PS and bone marrow findings, a diagnosis of DBA was given.

Anemia, Diamond-Blackfan/blood , Anemia, Diamond-Blackfan/complications , Anemia, Diamond-Blackfan/diagnosis , Bone Marrow/analysis , Central Nervous System/abnormalities , Humans , Hypothyroidism/diagnosis , Hypothyroidism/etiology , Infant , Male , Thyrotropin/blood , Thyrotropin-Releasing Hormone/blood
Rev. peru. med. exp. salud publica ; 30(1): 129-132, ene.-mar. 2013. ilus, graf, mapas, tab
Article in Spanish | LIPECS, LILACS, LIPECS | ID: lil-671705


La tiroiditis de Hashimoto constituye la causa más frecuente de hipotiroidismo en las regiones sin deficiencia de yodo, es más frecuente en mujeres y muchas veces tiene asociación familiar. Los síntomas y signos del hipotiroidismo son sistémicos y dependen de la duración e intensidad de la deficiencia de la hormona tiroidea. Las manifestaciones neuromusculares, son excepcionalmente los únicos signos clínicos. Se presenta el caso de un paciente joven con una miopatía severa con rabdomiolisis como la única manifestación de hipotiroidismo severo debido a tiroiditis de Hashimoto.

Hashimoto’s thyroiditis is the most frequent cause of hypothyroidism. In the regions with no iodine deficiency, it is more frequent in women and oftentimes has a familial association. The symptoms and signs of hypothyroidism are systemic and depend on the duration and intensity of the thyroid hormone deficiency. Neuromuscular manifestations are seldom the only symptoms and signs present. We present the case of a young patient with severe myopathy, where rhabdomyolysis was the sole manifestation of severe hypothyroidism secondary to Hashimoto’s thyroiditis.

Female , Humans , Young Adult , Hashimoto Disease/complications , Hypothyroidism/diagnosis , Hypothyroidism/etiology , Muscular Diseases/etiology , Rhabdomyolysis/etiology , Hypothyroidism/complications , Severity of Illness Index