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1.
Clin Imaging ; 64: 1-6, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32193065

RESUMO

Branchial cleft cysts are the most common lesions in the lateral neck with ectopic thyroid tissue found only rarely within these cysts. Over the years, multiple cases of papillary thyroid carcinoma arising from these ectopic thyroid tissues have been described in the literature with these cases sharing a normal thyroid gland on surgical and histological evaluation. Recently, however, there are three cases of papillary thyroid carcinoma in a branchial cleft cyst reported to be the result of metastasis from a thyroid primary. We present a 49-year-old female with a rare case of papillary thyroid carcinoma metastasis to a branchial cleft cyst with imaging characteristics that may prospectively suggest metastatic involvement.


Assuntos
Carcinoma Papilar/diagnóstico por imagem , Câncer Papilífero da Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Branquioma , Feminino , Neoplasias de Cabeça e Pescoço , Humanos , Pessoa de Meia-Idade , Pescoço/patologia , Pâncreas/patologia , Disgenesia da Tireoide , Neoplasias da Glândula Tireoide/patologia , Bexiga Urinária/patologia
2.
Pathologe ; 41(2): 177-180, 2020 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-31807845

RESUMO

We present a case of ectopic thyroid tissue in the adrenal gland and discuss the findings with regard to the literature. Ectopic thyroid tissue below the diaphragm is rare and the mechanism of development is poorly understood. From a differential diagnostic point of view, it is important to exclude metastatic spread from a thyroid primary.


Assuntos
Glândulas Suprarrenais/patologia , Disgenesia da Tireoide/diagnóstico , Diagnóstico Diferencial , Humanos
3.
Zhongguo Dang Dai Er Ke Za Zhi ; 21(10): 972-976, 2019 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-31642429

RESUMO

OBJECTIVE: To study the types and characteristics of TUBB1 mutation in children with congenital hypothyroidism (CH) and thyroid dysgenesis (TD) in Shandong, China. METHODS: Mutations of the whole coding region of the TUBB1 gene were analyzed for 289 children with CH and TD in Shandong. Whole-genome DNA was extracted from peripheral blood leukocytes. PCR multiplication was performed for the whole coding region of the TUBB1 gene. Sanger sequencing was performed for the PCR products, and a biological information analysis was performed. RESULTS: Among the 289 children with CH and TD, 4 (1.4%) were found to have a c.952C>T(p.R318W) heterozygous mutation in the TUBB1 gene, resulting in the change of tryptophan into arginine at codon 318 of TUBB1 protein. This mutation was evaluated as "potentially pathogenic" based on the classification criteria and guidelines for genetic variation by American College of Medical Genetics and Genomics. CONCLUSIONS: A novel mutation is detected in the exon of the TUBB1 gene in children with CH and TD in Shandong, suggesting that the TUBB1 gene may be a candidate pathogenic gene for CH children with TD.


Assuntos
Hipotireoidismo Congênito , Disgenesia da Tireoide , Tubulina (Proteína)/genética , Criança , China , Hipotireoidismo Congênito/genética , Análise Mutacional de DNA , Humanos , Mutação , Disgenesia da Tireoide/genética
4.
Medicine (Baltimore) ; 98(35): e16832, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31464909

RESUMO

INTRODUCTION: Ectopic thyroid occurs due to aberrant development of the thyroid gland during its migration to the pretracheal region. Intrapulmonary ectopic thyroid is extremely rare and its benign transformation (microfollicular adenoma) has never been reported. This paper reports a case of ectopic thyroid microfollicular adenoma in the lung mimicking metastatic pelvic tumors. PATIENT CONCERNS: A 76-year old female presented to our hospital because of transient unconsciousness. Pelvic ultrasound (US) and chest computed tomography (CT) showed pelvic tumors and pulmonary nodules. DIAGNOSIS AND INTERVENTIONS: The patient underwent pelvic tumors resection and CT-guided fine-needle aspiration cytology (FNAC) at the largest pulmonary nodule. Pathological description revealed bilateral ovarian serous cystadenoma and endometrioma in pelvic, and ectopic thyroid microfollicular adenoma in lung. In view of the patient's age and physical conditions, it is unanimously decided by the physicians and the family members of the patient to closely follow up this benign pulmonary lesion. OUTCOMES: During the 12-month follow-up, no pelvic tumor recurrence or metastasis was found. CT review of pulmonary nodules showed no remarkable changes. The patient was asymptomatic and euthyroid after being discharged from the hospital. CONCLUSION: Ectopic thyroid microfollicular adenoma in the lung is extremely rare and can be easily mistaken for pulmonary metastases from other sites. The case reported in this paper highlights that ectopic intrapulmonary thyroid tumor should not be overlooked.


Assuntos
Adenoma/diagnóstico por imagem , Nódulos Pulmonares Múltiplos/diagnóstico , Neoplasias Pélvicas/diagnóstico por imagem , Disgenesia da Tireoide/diagnóstico , Adenoma/cirurgia , Idoso , Biópsia por Agulha Fina , Diagnóstico Diferencial , Feminino , Humanos , Nódulos Pulmonares Múltiplos/patologia , Neoplasias Pélvicas/cirurgia , Tomografia Computadorizada por Raios X
5.
BMJ Case Rep ; 12(8)2019 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-31377715

RESUMO

We present a rare case of a 31-year-old patient with Graves' disease with agenesis of the left thyroid lobe. The patient was managed with a right hemithyroidectomy and isthmusectomy as definitively treatment of Graves' disease. The patient had an uneventful postoperative outcome and the histology was benign and consistent with Graves' disease. This is a rare case in the literature of Graves' disease with unilateral thyroid agenesis, and to our knowledge is the first reported case from the UK.


Assuntos
Doença de Graves/cirurgia , Disgenesia da Tireoide/cirurgia , Adulto , Feminino , Doença de Graves/diagnóstico , Humanos , Disgenesia da Tireoide/diagnóstico , Tireoidectomia , Resultado do Tratamento , Reino Unido
6.
PLoS One ; 14(8): e0221939, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31465501

RESUMO

Developmental anomalies of the thyroid gland lead to congenital malformations such as thyroglossal duct cysts and thyroid dysgenesis. However, the pathogenesis of thyroid dysgenesis remains unclear due to the lack of suitable animal models. This study demonstrated that Slc:Wistar/ST rats frequently developed unilateral thyroid dysgenesis, including hemiagenesis, characterized by the absence of one lobe. In Wistar/ST rats, each thyroid lobe was frequently different in size, and approximately 27% and 20% of the rats presented with hemihypoplasia and hemiagenesis of the thyroid gland, respectively. Dysgenesis was predominant on the left side in both sexes, without sex differences. At a young age, thyroid hemiagenesis did not alter body weight. In rats of both sexes with thyroid hemiagenesis, plasma total triiodothyronine and total triiodothyronine levels remained unchanged while plasma thyroid-stimulating hormone levels were significantly elevated in young rats. The remaining thyroid lobes increased in weight, but the follicular epithelial cells appeared normal in terms of their height and proliferating activities. On the side of thyroid dysgenesis, the parathyroid glands were normally localized and were situated at the same location as the contralateral glands. The ultimobranchial body remnants were localized at the level of the thyroid gland along with the cranial thyroid artery and vein, forming cell clusters or cystic structures and containing calcitonin-positive C-cells. In conclusion, Wistar/ST rats developed unilateral thyroid dysgenesis and may be novel and useful animal models for thyroid hemiagenesis in humans and for morphogenesis of pharyngeal pouch-derived organs.


Assuntos
Modelos Animais de Doenças , Disgenesia da Tireoide/etiologia , Disgenesia da Tireoide/patologia , Fatores Etários , Animais , Feminino , Imuno-Histoquímica , Masculino , Modelos Biológicos , Ratos , Ratos Wistar , Disgenesia da Tireoide/metabolismo , Hormônios Tireóideos/metabolismo
8.
Clin Imaging ; 58: 46-49, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31238185

RESUMO

A 34-year old woman with past history of anxiety, depression, and hypothyroidism resulting from prior total thyroidectomy for multinodular goiter presented with complaints of palpitations, sweating, and tachycardia. Clinical examination revealed a painless right lateral neck mass. USG/CT of the neck revealed the soft tissue mass located at the right carotid bifurcation. A subsequent Indium-111 pentetreotide somatostatin receptor scintigraphy (SRS) demonstrated tracer uptake in the mass. Hence, secretory carotid body tumor/paraganglioma was strongly suspected. However, post-surgical histopathological specimen revealed only benign thyroid follicles indicative of lateral ectopic thyroid with no evidence of neuroendocrine cells or malignancy. This case highlights the importance of considering lateral ectopic thyroid, a very rare entity, in the differential diagnosis for carotid bifurcation masses. Also highlighted is the false positivity from normal but ectopic thyroid tissue on Indium-111 pentetreotide SRS mimicking a paraganglioma.


Assuntos
Transtorno Depressivo , Disgenesia da Tireoide/diagnóstico por imagem , Adulto , Tumor do Corpo Carotídeo/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Radioisótopos de Índio , Cintilografia , Somatostatina/análogos & derivados , Taquicardia/etiologia , Disgenesia da Tireoide/complicações
9.
Clin Nucl Med ; 44(7): e453-e455, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30985427

RESUMO

Ectopic thyroid tissue is a rare entity of embryological aberration along the tract of descend of thyroid gland. Accurate localization and characterization are required for deciding management based on clinical features and symptoms. Ectopic thyroid in the absence of normal thyroid gland is uncommon. However, triple ectopic thyroid with absence of normal thyroid gland is very rare, with only a few cases reported previously. We present a case of triple ectopic thyroid, which appeared as single on planar Tc-sodium pertechnetate image, but was evident on SPECT/CT images.


Assuntos
Tomografia Computadorizada com Tomografia Computadorizada de Emissão de Fóton Único , Disgenesia da Tireoide/diagnóstico por imagem , Criança , Feminino , Humanos , Compostos Radiofarmacêuticos , Pertecnetato Tc 99m de Sódio
10.
Ultrasound Med Biol ; 45(7): 1644-1653, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31031038

RESUMO

The aim of this study was to assess the diagnostic contribution of gray-scale ultrasonography, color Doppler, superb microvascular imaging and shear wave elastography in thyroid dyshormonogenesis (TD). From October 2017 to February 2018, the prospective study included 31 patients (13.6 y; 11-14 y) diagnosed with TD based on thyroid scintigraphy and perchlorate discharge tests and 40 healthy pediatric volunteers (12.8 y; 10-16 y). Median resistive indices (RIs), peak systolic and end-diastolic velocities, vascularity indices (VIs) via superb microvascular imaging and shear wave elastography parameters were evaluated. Median VI values were significantly higher and median RI values were significantly lower in the study group than the control group. No significant difference was found between shear wave elastography parameters of the TD and control group. VI was significantly correlated with median total thyroid gland volumes (p = 0.002, r = 0.28), medication dosage (p = 0.03, r = 0.48) and 2-h radioactive iodine uptake values (p = 0.008, r = 0.57). VI is a clinically significant and novel parameter useful for diagnosing TD.


Assuntos
Disgenesia da Tireoide/diagnóstico por imagem , Ultrassonografia/métodos , Adolescente , Criança , Técnicas de Imagem por Elasticidade/métodos , Feminino , Humanos , Masculino , Estudos Prospectivos , Glândula Tireoide/diagnóstico por imagem
11.
Nuklearmedizin ; 58(3): 265-271, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30974469

RESUMO

AIM: Thyroid hemiagenesis (TH) is a rare congenital anomaly in which one thyroid lobe fails to develop. We describe our experience with at least 13 patients presenting with TH at our department. METHODS: We retrospectively analysed patients with TH, who had been referred primarily to our clinic between 2004 and 2010. In patients with TH, thyroid function parameters and thyroid autoantibodies were examined. 99mTc-pertechnetate thyroid scintigraphy and sonography were performed in all patients and confirmed the diagnosis of TH. RESULTS: We identified 13 patients (11 women, 2 men) with TH in our patient collective and calculated an estimated prevalence of TH of 0.08 %.We found TH to occur more frequently in the left lobe and also more frequently in females than in males. 9 patients presented with a total absence of one thyroid lobe and 4 patients presented with severe hypoplasia of one thyroid lobe with an isthmus appearing as a "hockey stick sign" on scintigraphic imaging. Associated thyroid diseases could be observed in the remaining lobe in all patients and included hyperthyroidism, hypothyroidism, nodular goiter, toxic goiter, hypofunctioning nodules, Graves' disease and Hashimoto-thyroiditis. The most frequent thyroid disease in our patients with TH was nodular goiter. We did not find any association of TH with malignancy. CONCLUSION: TH is mostly detected incidentally as the prevalence of TH is extraordinary low. The fact that all of our patients with TH were also affected by other forms of thyroid disease is reasonable since the patients were not referred to the diagnostic centre due to TH but rather due to the associated thyroid disease. Possibly there are different groups of TH: the symptomatic hypothyroid children, the lifelong euthyroid adults who are diagnosed incidentally through another thyroid disease and the patients with a molecular failure of proper thyroid development.


Assuntos
Doenças da Glândula Tireoide/patologia , Disgenesia da Tireoide/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Cintilografia/métodos , Compostos Radiofarmacêuticos/metabolismo , Estudos Retrospectivos , Pertecnetato Tc 99m de Sódio/metabolismo , Doenças da Glândula Tireoide/diagnóstico por imagem , Doenças da Glândula Tireoide/etiologia , Doenças da Glândula Tireoide/metabolismo , Ultrassonografia/métodos
12.
Int J Surg Pathol ; 27(5): 553-555, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30871393

RESUMO

Thyroid ectopia is a rare finding below the diaphragm. It is characterized by normal thyroid parenchyma in unusual locations with preserved thyroid marker immunoreactivity. In this article, we present the first known case of thyroid tissue in the periappendiceal fat and discuss possible ethiopathogenic theories.


Assuntos
Apêndice/patologia , Coristoma/diagnóstico , Gordura Intra-Abdominal/patologia , Disgenesia da Tireoide/diagnóstico , Apendicectomia , Apêndice/cirurgia , Coristoma/patologia , Coristoma/cirurgia , Feminino , Humanos , Gordura Intra-Abdominal/cirurgia , Pessoa de Meia-Idade , Disgenesia da Tireoide/patologia , Disgenesia da Tireoide/cirurgia
13.
Medicine (Baltimore) ; 98(8): e14606, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30813185

RESUMO

RATIONALE: Thyroid hemiagenesis is a rare congenital dysplasia, whereas a variety of pathological changes may occur in residual thyroid lobe. The most frequently described pathology in residual thyroid lobe is Graves' hyperthyroidism. Although I therapy has been generally recommended as the preferred treatment for Graves' disease (GD), subjects relating to hemiagenesis are very limited, especially in China. PATIENT CONCERNS: A 43-year-old female patient presented to our hospital on November 2014, with a 1-year history of palpitation, fatigue, and hand tremor. Her situation was getting worse within 2 months. DIAGNOSIS: The thyroid function tests were suggestive of thyrotoxicosis. The technetium thyroid scintigraphy only showed an enlarged right lobe with increased tracer uptake. Then, the agenesis of left lobe and isthmus was confirmed by ultrasound and magnetic resonance imaging (MRI). Thus, a diagnosis of GD with hemiageneis of the left lobe and isthmus of thyroid was made. INTERVENTIONS: Thiamazole was discontinued because of drug-induced hepatic injury. According to our procedures, the patient was treated by I. OUTCOMES: Hypothyroidism was observed 3 months after I therapy. After replacement therapy with L-thyroxine (LT4), the state of euthyroid maintained. LESSONS: Once hypothyroidism occurs, regular application of LT4 and review of thyroid function is very important. Thus, patients' compliance needs to be strengthened. Besides, we could not convince the family members of our patient to undergo ultrasonographic examination. The genetic factor of the agenesis could not be proved in this case.


Assuntos
Doença de Graves/radioterapia , Radioisótopos do Iodo/uso terapêutico , Disgenesia da Tireoide/complicações , Glândula Tireoide/patologia , Adulto , China , Feminino , Doença de Graves/complicações , Doença de Graves/diagnóstico , Humanos , Imagem por Ressonância Magnética , Cintilografia , Disgenesia da Tireoide/diagnóstico , Testes de Função Tireóidea/métodos , Glândula Tireoide/diagnóstico por imagem , Tiroxina/uso terapêutico , Ultrassonografia
14.
Chin Med J (Engl) ; 132(11): 1322-1327, 2019 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-30888984

RESUMO

BACKGROUND: The transcription factor paired box 8 (PAX8) was associated with type 2 congenital non-goitrous hypothyroidism (CHNG2), a clinical phenotype of congenital hypothyroidism (CH). Though studied in a few regions with different ethnicities, the incidence of PAX8 mutations varied, even among Chinese cohorts in different regions. This study aimed to identify and characterize PAX8 mutations and explore the prevalence of its mutations in another cohort of CH. METHODS: The 105 unrelated Chinese patients with CH were collected from four major hospitals. Exomes of the 105 samples were sequenced by Hiseq 2000 platform to identify mutations of PAX8 on genomic DNAs extracted from peripheral blood samples. Luciferase reporter assays were used to assess the effects of mutations on the transcription of thyroid peroxidase (TPO). RESULTS: Three PAX8 mutations in four subjects were identified in 105 samples. One variant, rs189229644, was detected in two subjects, and categorized as uncertain significance. The other two missense mutations (275T>C/Ile92Thr and 398G>A/Arg133Gln) were not detected in three large-scale genotyping projects, namely 1000 Genome Project, Exome Aggregation Consortium and GO Exome Sequencing Project. Functional studies for the two mutations revealed that they could impair the transcription ability of PAX8 on one of its target genes, TPO. Therefore, the two mutations were causative for the pathogenesis of CHNG2. After combining the studies of PAX8 mutations, an average frequency of 1.74% (21/1209) could be obtained in Chinese patients with CH. CONCLUSION: The study specifically demonstrates the role of two mutations in impairing the transcription ability of PAX8, which should be considered as pathogenic variants for CH.


Assuntos
Hipotireoidismo Congênito/genética , Fator de Transcrição PAX8/genética , Animais , Grupo com Ancestrais do Continente Asiático , Pré-Escolar , Feminino , Células HEK293 , Humanos , Lactente , Iodeto Peroxidase/genética , Masculino , Mutação/genética , Mutação de Sentido Incorreto/genética , Disgenesia da Tireoide/genética , Fatores de Transcrição/genética
15.
J Coll Physicians Surg Pak ; 29(1): 75-77, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30630576

RESUMO

The thyroid is an endocrine gland composed of two lateral lobes connected by a strip of thyroid tissue called an isthmus. The thyroid gland is usually associated with extensive morphological variations and developmental anomalies. During the 4th intrauterine week, the thyroid gland begins to develop mainly from the invagination of the endodermal cells of the ventral floor of the primitive pharynx. One of the anomalies of the thyroid gland is the agenesis of the isthmus of the thyroid. It is a rare condition and very few cases have been reported in the literature. Another rare developmental abnormality is the presence of ectopic thyroid tissues, which are characterised by the presence of thyroid tissue in locations other than the anterolateral region of the second and fourth tracheal cartilages. Ectopic thyroid tissues are most commonly found in the lingual region but are also found in the other head/neck localisations as well. In this present case report, a 54-year-old female patient with the agenesis of the isthmus of the thyroid gland with accompanying tissues of multifocal and multicentric papillary thyroid carcinoma will be discussed. When an agenesis of the isthmus of the thyroid is detected, the agenesis of the thyroid lobes or the presence of an ectopic thyroid tissue must be considered. Especially in the patients who will undergo a thyroid surgery, it should not be forgotten that the identification of an agenesis of the isthmus as well as the other thyroid anomalies during the preoperative examination, will make a remarkable contribution in deciding the strategy of the surgery and will help in preventing the development of surgical complications. However, it is not always possible to detect the presence of these anomalies, during the preoperative examinations of the patients who will undergo thyroid surgeries; therefore, one must be careful with regard to these type of anomalies in the perioperative examinations. To the best of authors' information, the present case is considered to be the first in the literature in English, presenting with an agenesis of the isthmus of the thyroid gland in the presence of ectopic thyroid tissues associated with papillary carcinoma.


Assuntos
Carcinoma Papilar/patologia , Câncer Papilífero da Tireoide/patologia , Disgenesia da Tireoide/diagnóstico por imagem , Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/patologia , Carcinoma Papilar/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Câncer Papilífero da Tireoide/cirurgia , Disgenesia da Tireoide/cirurgia , Glândula Tireoide/anormalidades , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia , Resultado do Tratamento , Ultrassonografia
17.
EMBO Mol Med ; 10(12)2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30446499

RESUMO

The genetic causes of congenital hypothyroidism due to thyroid dysgenesis (TD) remain largely unknown. We identified three novel TUBB1 gene mutations that co-segregated with TD in three distinct families leading to 1.1% of TUBB1 mutations in TD study cohort. TUBB1 (Tubulin, Beta 1 Class VI) encodes for a member of the ß-tubulin protein family. TUBB1 gene is expressed in the developing and adult thyroid in humans and mice. All three TUBB1 mutations lead to non-functional α/ß-tubulin dimers that cannot be incorporated into microtubules. In mice, Tubb1 knock-out disrupted microtubule integrity by preventing ß1-tubulin incorporation and impaired thyroid migration and thyroid hormone secretion. In addition, TUBB1 mutations caused the formation of macroplatelets and hyperaggregation of human platelets after stimulation by low doses of agonists. Our data highlight unexpected roles for ß1-tubulin in thyroid development and in platelet physiology. Finally, these findings expand the spectrum of the rare paediatric diseases related to mutations in tubulin-coding genes and provide new insights into the genetic background and mechanisms involved in congenital hypothyroidism and thyroid dysgenesis.


Assuntos
Plaquetas/citologia , Plaquetas/patologia , Mutação , Agregação Plaquetária , Disgenesia da Tireoide/genética , Tubulina (Proteína)/genética , Animais , Humanos , Camundongos , Camundongos Knockout , Disgenesia da Tireoide/patologia
18.
J Clin Ultrasound ; 46(9): 582-584, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30288756

RESUMO

Ectopic thyroid and fourth branchial cleft anomaly are rare congenital anomalies of the neck. This is a case report of the coexistence of these two rare congenital anomalies in a 1-year-old girl. She had ectopic lingual thyroid and asymptomatic abscess in the fourth branchial cleft cyst, which was found in ultrasonography carried out to evaluate congenital hypothyroidism. To the best of our knowledge, this is the first reported case of ectopic thyroid coexisting with fourth branchial cleft anomaly in the same patient.


Assuntos
Branquioma/complicações , Branquioma/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/complicações , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Disgenesia da Tireoide/complicações , Disgenesia da Tireoide/diagnóstico por imagem , Região Branquial/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Ultrassonografia/métodos
19.
Arch Endocrinol Metab ; 62(4): 466-471, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30304112

RESUMO

OBJECTIVE: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. SUBJECTS AND METHODS: Characterization of patients with congenital hypothyroidism into specific subtypes of thyroid dysgenesis with hormone levels (TT4 and TSH), thyroid ultrasound and scintigraphy. DNA was extracted from peripheral blood leukocytes and the genetic analysis was realized by investigating the presence of mutations in the transcription factor genes involved in thyroid development. RESULTS: No mutations were detected in any of the candidate genes. In situ thyroid gland represented 71.1% of all cases of permanent primary congenital hypothyroidism, followed by hypoplasia (9.6%), ectopia (78%), hemiagenesis (6.0%) and agenesis (5.5%). The highest neonatal screening TSH levels were in the agenesis group (p < 0.001). CONCLUSIONS: Thyroid dysgenesis is possibly a polygenic disorder and epigenetic factors could to be implicated in these pathogeneses.


Assuntos
Proteína Homeobox Nkx-2.5/genética , Mutação/genética , Fator de Transcrição PAX8/genética , Receptores da Tireotropina/genética , Disgenesia da Tireoide/genética , Brasil , Pré-Escolar , Estudos de Coortes , Hipotireoidismo Congênito/diagnóstico por imagem , Hipotireoidismo Congênito/etiologia , Hipotireoidismo Congênito/genética , Análise Mutacional de DNA , Feminino , Testes Genéticos , Humanos , Lactente , Recém-Nascido , Masculino , Triagem Neonatal , Disgenesia da Tireoide/complicações , Disgenesia da Tireoide/diagnóstico por imagem , Tireotropina/sangue , Tiroxina/sangue , Fatores de Transcrição HES-1/genética , Ultrassonografia
20.
J Clin Endocrinol Metab ; 103(12): 4428-4436, 2018 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-30272179

RESUMO

Objective: To assess clinical variables, including early thyroid scintigraphy, in predicting the outcome (permanent vs transient) in term infants with congenital hypothyroidism (CH). Methods: In a retrospective study, 142 full-term infants with CH diagnosed between 2000 and 2012 were categorized into three groups: agenesis/ectopic thyroid and permanent CH; eutopic thyroid and permanent CH; and eutopic thyroid and transient CH. All underwent early thyroid scintigraphy and were under regular follow-up in our tertiary Pediatric Endocrine Institute. Results: Thyroid scan showed agenesis/ectopic thyroid in 58 (41%) and eutopic thyroid in 84 (59%) infants. Imaging findings were similar in eutopic-permanent and eutopic-transient groups. At initial evaluation, TSH levels were higher in the agenesis/ectopic group than in the eutopic-permanent and eutopic-transient groups (71.5 ± 11.2 mIU/L vs 49.1 ± 27.9 mIU/L and 42.5 ± 29.1 mIU/L, respectively; P < 0.001). Higher l-T4 doses were required from the third month in the agenesis/ectopic than in the eutopic-permanent group (P < 0.001) and from the sixth month in the eutopic-permanent than in the eutopic-transient group (P < 0.01). Initial TSH >63.5 mU/L (P < 0.001) and l-T4 dose >4.6 µg/kg/d at age >6 months (P < 0.001) were found to be predictors for an agenesis/ectopic gland using receiver operating characteristic analysis, as was an l-T4 dose >2.2 µg/kg/d at age >6 months (P < 0.01) for permanent CH in patients with a eutopic gland. Conclusions: Although early thyroid scintigraphy is reliable in predicting permanent CH when detecting agenesis or ectopic gland, it cannot differentiate between permanent and transient CH in cases with a eutopic thyroid. Confirmatory TSH at diagnosis and the l-T4 dose through treatment may better distinguish between permanent and transient CH.


Assuntos
Hipotireoidismo Congênito/diagnóstico , Triagem Neonatal/métodos , Disgenesia da Tireoide/diagnóstico , Glândula Tireoide/anormalidades , Tiroxina/administração & dosagem , Pré-Escolar , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/tratamento farmacológico , Hipotireoidismo Congênito/etiologia , Diagnóstico Diferencial , Relação Dose-Resposta a Droga , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Cintilografia , Estudos Retrospectivos , Disgenesia da Tireoide/sangue , Disgenesia da Tireoide/complicações , Disgenesia da Tireoide/tratamento farmacológico , Glândula Tireoide/diagnóstico por imagem , Tireotropina/sangue , Tomografia Computadorizada por Raios X
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