RESUMO
INTRODUCTION: Ultrasound screening for thyroid cancer is recommended in familial adenomatous polyposis (FAP). This study investigated the prevalence of thyroid neoplasia in children with FAP. METHODS: Cross-sectional study of children with FAP at an academic hospital. Clinical and ultrasound data were analyzed for the prevalence of thyroid nodules and cancer. RESULTS: Of 37 children with FAP, 8 (22%) had thyroid nodules and 2 (5%) had thyroid cancer. Nodules (30%) and cancer (9%) were more common among female subjects and rare among male subjects. DISCUSSION: Thyroid ultrasound screening in adolescence may benefit female subjects with FAP but has limited utility in male subjects.
Assuntos
Polipose Adenomatosa do Colo , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Polipose Adenomatosa do Colo/diagnóstico por imagem , Polipose Adenomatosa do Colo/epidemiologia , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/epidemiologia , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/epidemiologiaRESUMO
BACKGROUND: The Society of Surgical Oncology collaborates with the National Resident Matching Program (NRMP) to facilitate the Complex General Surgical Oncology (CGSO) Match. OBJECTIVE: The purpose of this study was to understand trends in CGSO Match outcomes. We hypothesized that (1) match rates would increase with time; (2) US allopathic graduates would have higher match rates than non-US allopathic graduates; and (3) most applicants would match at one of their top three ranked choices. METHODS: The NRMP provided applicant and program data from the CGSO Match (2014-2021). Chi-square tests elucidated temporal trends and match rates by applicant archetype. RESULTS: The annual number of applicants decreased from 103 to 90 (13% decrease), while the annual number of fellowship positions increased from 56 to 67 (20% increase) from 2014-2021. The annual percentage of applicants who did not match decreased from 46% to 26% (p < 0.05). Annual match rates increased from 54% to 74% (p < 0.05). US allopathic graduates had higher match rates than non-US allopathic graduates but this disparity narrowed over time (84% vs. 55% in 2021; p < 0.001). Approximately half of all applicants matched at one of their top three choices (first, 29%; second, 12%; third, 8%). Applicants matching at one of their top three choices increased from 36% to 50% (p < 0.05). CONCLUSIONS: CGSO Match rates have increased over the past decade, thus primarily benefiting non-US allopathic graduates. Most applicants match at one of their top three choices. More research is needed to understand disparities in match rates by applicant and residency program characteristics.
Assuntos
Internato e Residência , Oncologia Cirúrgica , Humanos , Estados Unidos , Bolsas de EstudoRESUMO
BACKGROUND: The literature includes multiple descriptions of successful nurse-led interventions, but the effects of nurse-led education on nurse and patient satisfaction in an executive health program are unknown. LOCAL PROBLEM: Nursing staff desire to practice more fully within their scope of licensure. Increased practice demands raised questions about whether nurse-led education would improve staff and patient satisfaction. METHODS/INTERVENTIONS: A structured quality improvement process was used to design a nurse-led patient education program. Pilot measures included 5-point Likert scale patient and staff satisfaction surveys. Nurse burnout was also measured before and after the pilot. RESULTS: Patient satisfaction was high; 96% reported favorable satisfaction during the pilot, with sustained results over the following 3 years. Nurses' sense of achievement improved by 12 percentage points, and perception of making good use of skills and abilities increased by 39 percentage points. CONCLUSIONS: A nurse-led patient education intervention contributed to improved staff satisfaction while sustaining a positive patient experience.
Assuntos
Enfermeiras e Enfermeiros , Recursos Humanos de Enfermagem Hospitalar , Humanos , Papel do Profissional de Enfermagem , Educação de Pacientes como Assunto , Inquéritos e QuestionáriosRESUMO
Background The American College of Radiology (ACR) Thyroid Imaging Reporting and Data System (TI-RADS) is a recognized tool for management of thyroid nodules in adults but has not been validated in pediatric patients. Purpose To assess the performance of the ACR TI-RADS criteria for guiding decisions on whether to biopsy thyroid nodules in pediatric patients in a single referral center. Materials and Methods In this retrospective study, a database of thyroid nodules in patients younger than 19 years who underwent fine-needle aspiration (FNA) biopsy between January 2004 and July 2017 was analyzed. ACR TI-RADS criteria were applied to each nodule, and an ACR TI-RADS score was created to determine how the nodule would be managed. The number of nodules that would be biopsied with FNA on the basis of ACR TI-RADS was compared with the total number of nodules biopsied with FNA in this clinic to determine if the use of ACR TI-RADS would have changed the rate of FNA (eg, decreased the number of procedures) and whether that change would have affected the timely diagnosis of cancer. Results A total of 314 patients (mean age, 14.9 years; age range, 2-18 years; 28 prepubertal patients; 286 postpubertal patients; 260 female patients) were evaluated. In these 314 patients, 404 thyroid nodules were scored, of which 19.1% (77 of 404) were malignant. Most cancers were papillary carcinoma (68 [88.3%] of 77). The use of ACR TI-RADS criteria for management of nodules in this pediatric study sample would have resulted in 17 (22.1%) of 77 cancers being missed at the patient's initial visit. Conclusion Use of the current American College of Radiology Thyroid Imaging Reporting and Data System criteria for management of pediatric thyroid nodules is inadequate because a high percentage of cancers would be missed at the initial encounter. © RSNA, 2019.
Assuntos
Sistemas de Informação em Radiologia/estatística & dados numéricos , Nódulo da Glândula Tireoide/diagnóstico por imagem , Ultrassonografia/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pediatria , Radiologia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sociedades Médicas , Glândula Tireoide/diagnóstico por imagem , Estados UnidosRESUMO
Purpose To determine the relationship between demographic and sonographic characteristics of thyroid nodules and malignancy in a pediatric population. Materials and Methods All thyroid nodules in patients younger than 19 years that underwent ultrasound (US)-guided fine-needle aspiration biopsy between January 2004 and July 2017 were retrospectively identified. Age, sex, and background appearance of the thyroid gland were recorded for each patient, and sonographic characteristics and pathologic diagnosis were recorded for each nodule. Demographic and sonographic characteristics were assessed to determine which were associated with malignancy. Categorical and continuous variables and interobserver variability were assessed. Results A total of 404 nodules in 314 patients (82.8% female) (age range, 2-18 years; mean age, 14.9 years) were analyzed. A total of 77 nodules (19.1%) were malignant, the majority of which were papillary thyroid carcinoma (n = 68 [88.3%]). The likelihood of malignancy did not differ between boys and girls (27.8% vs 22.7%, P = .64), nor did it differ between prepubertal and pubertal patients (18.8% vs 19.1%, P > .99). The cancer rate in patients with a solitary nodule was higher than that in patients with multiple nodules (29.4% vs 14.2%, P = .003). Sonographic characteristics associated with malignant nodules included larger size, solid parenchyma, taller-than-wide shape, presence of speckled calcifications, lack of a smooth margin, and presence of abnormal lymph nodes. Interobserver variability for assessment of sonographic characteristics ranged from moderate to very strong. Conclusion In children with thyroid nodules, solitary nodules, larger nodule size, solid parenchyma, taller-than-wide shape, speckled calcifications, irregular margins, and abnormal lymph nodes raise concern for malignancy.
Assuntos
Carcinoma Papilar/diagnóstico por imagem , Carcinoma Papilar/patologia , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/patologia , Ultrassonografia de Intervenção/métodos , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Biópsia Guiada por Imagem/métodos , Masculino , Variações Dependentes do Observador , Estudos Retrospectivos , Sensibilidade e Especificidade , Câncer Papilífero da Tireoide , Glândula Tireoide/diagnóstico por imagem , Glândula Tireoide/patologiaRESUMO
PURPOSE OF REVIEW: Graves' disease is the most common cause of hyperthyroidism in the pediatric population. It occurs more often in adolescence and in girls; however, prepubertal children tend to have more severe disease, require longer medical therapy, and have a lower rate of remission as compared with pubertal children. The choice of which of the three therapeutic options to use (medical therapy, radioactive iodine ablation, or surgery) must be individualized. This update will focus on the current diagnostic and treatment modalities available, as well as address the controversy that exists with regards to permanent therapy. RECENT FINDINGS: The diagnosis of Graves' disease is often made clinically. With the development of second-generation and third-generation thyroid-stimulating hormone receptor antibody assays, it can be more reliably confirmed. An improved understanding of the underlying autoimmune process and genetics is underway; however, remission rates in children and adolescents remain low. Because of its ease of administration and long-term follow-up, there is a trend towards permanent therapy with radioactive iodine ablation when remission cannot be achieved with medical therapy. SUMMARY: New genes and susceptibility loci have been identified with the hope of better understanding the refractory nature of Graves' disease. Despite the low rates of remission, permanent therapy with radioactive iodine remains a good option.
Assuntos
Antitireóideos/uso terapêutico , Doença de Graves/terapia , Hipertireoidismo/terapia , Radioisótopos do Iodo/uso terapêutico , Medicina de Precisão , Tireoidectomia/métodos , Tireotropina/uso terapêutico , Adolescente , Criança , Tomada de Decisões , Feminino , Doença de Graves/complicações , Humanos , Hipertireoidismo/etiologia , Masculino , Medição de Risco , Resultado do TratamentoRESUMO
In a retrospective analysis of childhood thyroid nodules, 18% were radiographic incidentalomas and 41% were discovered by a clinician's palpation; 40% were discovered by patients' families. The latter group had the largest nodules and highest rates of thyroid cancer metastasis, suggesting opportunities for earlier detection through annual well-child visits.
Assuntos
Nódulo da Glândula Tireoide/diagnóstico , Adolescente , Criança , Pré-Escolar , Diagnóstico Precoce , Feminino , Humanos , Achados Incidentais , Masculino , Metástase Neoplásica , Exame Físico/estatística & dados numéricos , Radiografia , Estudos Retrospectivos , Autoexame/estatística & dados numéricos , Distribuição por Sexo , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/epidemiologia , Nódulo da Glândula Tireoide/diagnóstico por imagemRESUMO
ABSTRACT: Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Prompt diagnosis by newborn screening (NBS) leading to early and adequate treatment results in grossly normal neurocognitive outcomes in adulthood. However, NBS for hypothyroidism is not yet established in all countries globally. Seventy percent of neonates worldwide do not undergo NBS.The initial treatment of CH is levothyroxine, 10 to 15 mcg/kg daily. The goals of treatment are to maintain consistent euthyroidism with normal thyroid-stimulating hormone and free thyroxine in the upper half of the age-specific reference range during the first 3 years of life. Controversy remains regarding detection of thyroid dysfunction and optimal management of special populations, including preterm or low-birth weight infants and infants with transient or mild CH, trisomy 21, or central hypothyroidism.Newborn screening alone is not sufficient to prevent adverse outcomes from CH in a pediatric population. In addition to NBS, the management of CH requires timely confirmation of the diagnosis, accurate interpretation of thyroid function testing, effective treatment, and consistent follow-up. Physicians need to consider hypothyroidism in the face of clinical symptoms, even if NBS thyroid test results are normal. When clinical symptoms and signs of hypothyroidism are present (such as large posterior fontanelle, large tongue, umbilical hernia, prolonged jaundice, constipation, lethargy, and/or hypothermia), measurement of serum thyroid-stimulating hormone and free thyroxine is indicated, regardless of NBS results.
Assuntos
Hipotireoidismo Congênito , Recém-Nascido , Lactente , Humanos , Criança , Pré-Escolar , Tiroxina , Tireotropina , Testes de Função Tireóidea , Triagem NeonatalRESUMO
Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Newborn screening (NBS) for CH should be performed in all infants. Prompt diagnosis by NBS leading to early and adequate treatment results in grossly normal neurocognitive outcomes in adulthood. However, NBS for hypothyroidism is not yet practiced in all countries globally. Seventy percent of neonates worldwide do not undergo NBS. The recommended initial treatment of CH is levothyroxine, 10 to 15 mcg/kg daily. The goals of treatment are to maintain consistent euthyroidism with normal thyroid-stimulating hormone and with free thyroxine in the upper half of the age-specific reference range during the first 3 years of life. Controversy remains regarding the detection of thyroid dysfunction and optimal management of special populations, including preterm or low-birth-weight infants and infants with transient or mild CH, trisomy 21, or central hypothyroidism. NBS alone is not sufficient to prevent adverse outcomes from CH in a pediatric population. In addition to NBS, the management of CH requires timely confirmation of the diagnosis, accurate interpretation of thyroid function testing, effective treatment, and consistent follow-up. Physicians need to consider hypothyroidism in the face of clinical symptoms, even if NBS thyroid test results are normal. When clinical symptoms and signs of hypothyroidism are present (such as large posterior fontanelle, large tongue, umbilical hernia, prolonged jaundice, constipation, lethargy, and/or hypothermia), measurement of serum thyroid-stimulating hormone and free thyroxine is indicated, regardless of NBS results.
Assuntos
Hipotireoidismo Congênito , Recém-Nascido , Lactente , Humanos , Criança , Pré-Escolar , Tiroxina , Tireotropina , Testes de Função Tireóidea , Triagem NeonatalRESUMO
BACKGROUND: Thyroid nodules with atypia of undetermined significance (AUS) are challenging to manage because of their intermediate risk of malignancy. Subclassification of atypia can refine malignancy risk in adult AUS nodules but has not been evaluated in children. METHODS: This was a retrospective cohort study of pediatric patients (<19 years old) who underwent fine-needle aspiration (FNA) of a thyroid nodule with resulting AUS cytology. Atypia was subclassified as nuclear only, architectural only, nuclear and architectural, or oncocytic. The primary outcome was the association between atypia subtype and malignancy. A secondary outcome was the association of atypia subtype with repeat FNA cytology. RESULTS: Sixty-eight AUS nodules in 61 patients were analyzed. The median age at FNA was 16.2 years (range, 9.8-18.9 years). Twenty-four nodules (35%) were malignant. Nuclear atypia only was present in 17 nodules (25%), architectural atypia only was present in 27 nodules (40%), nuclear and architectural atypia was present in 20 nodules (29%), and predominantly oncocytic features were present in 4 nodules (6%). The presence of nuclear atypia was associated with a significantly increased rate of malignancy (22 of 37 [59%] vs 2 of 31 [6.5%]; P < .001), whereas architectural atypia was not associated with malignancy (P = .8). Repeat FNA was performed in 42 of 68 nodules (62%). In nodules with initial nuclear and architectural atypia, benign repeat cytology had a high false-negative rate (3 of 6; 50%). CONCLUSIONS: Pediatric AUS nodules with nuclear atypia have a high rate of malignancy, but architectural atypia is not associated with malignancy. In nodules with nuclear atypia, repeat FNA may inform clinical decisions regarding the need for resection. In the absence of suspicious clinical features, nodules without nuclear atypia might be considered for observation rather than resection or repeat FNA.
Assuntos
Adenocarcinoma Folicular , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Adenocarcinoma Folicular/patologia , Adulto , Biópsia por Agulha Fina/métodos , Criança , Citodiagnóstico , Humanos , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/patologia , Adulto JovemRESUMO
Background: It is uncertain whether the presence of autoimmune thyroiditis (AIT) increases the risk of thyroid cancer in children with thyroid nodules. This study evaluated the association between AIT and thyroid cancer in pediatric patients with thyroid nodules. Methods: A cross-sectional study was performed of pediatric patients (<19 years old) with a thyroid nodule (≥1 cm) who underwent fine-needle aspiration in an academic pediatric thyroid center. AIT was defined by the presence of thyroid autoantibodies or diffusely heterogeneous sonographic echotexture. The primary outcome was diagnosis of thyroid cancer. The association of AIT with thyroid cancer was evaluated with univariable and multivariable logistic regression. Associations of AIT with subject and nodule characteristics were also assessed. Results: Four hundred fifty-eight thyroid nodules in 385 patients (81% female) were evaluated at a median age of 15.5 years (interquartile range 13.5-17.0). Thyroid cancer was present in 108 nodules (24%). AIT was present in 95 subjects (25%) and was independently associated with an increased risk of thyroid cancer (multivariable odds ratio [OR] 2.19, 95% confidence interval [CI] 1.32-3.62). Thyroid cancer was also independently associated with younger age, nodule size, and solitary nodules, but was not associated with serum thyrotropin concentration. AIT was not associated with the likelihood of subjects undergoing thyroid surgery (p = 0.17). AIT was less commonly associated with follicular thyroid carcinoma than with papillary thyroid carcinoma (OR 0.22, CI 0.05-1.06). Among papillary thyroid carcinomas, AIT was strongly associated with the diffuse sclerosing variant (OR 4.74, CI 1.33-16.9). AIT was not associated with the extent of local, regional, or distant disease at thyroid cancer diagnosis. Conclusions: AIT is independently associated with an increased risk of thyroid cancer in children with thyroid nodules. These findings suggest that the evaluation of thyroid autoantibodies and thyroid echotexture may inform thyroid cancer risk assessment and surgical decision-making in children with thyroid nodules.
Assuntos
Doença de Hashimoto , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Tireoidite Autoimune , Adolescente , Autoanticorpos , Estudos Transversais , Feminino , Doença de Hashimoto/complicações , Humanos , Masculino , Estudos Retrospectivos , Câncer Papilífero da Tireoide/complicações , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/epidemiologia , Nódulo da Glândula Tireoide/complicações , Nódulo da Glândula Tireoide/diagnóstico por imagem , Tireoidite Autoimune/complicações , TireotropinaRESUMO
OBJECTIVE: Surgical resection is recommended for cytologically indeterminate pediatric thyroid nodules due to their intermediate malignancy risk. We evaluated the utility of ultrasound characteristics for refining malignancy risk to inform the management of these nodules. DESIGN: Retrospective cohort study (2004-2019). METHODS: We analyzed consecutive thyroid nodules with indeterminate fine-needle aspiration cytology (Bethesda category III, IV, or V) in pediatric patients (<19 years). We assessed the association of demographic and sonographic characteristics with malignancy risk among all indeterminate nodules and within each Bethesda category. RESULTS: Eighty-seven cytologically indeterminate nodules were identified in 78 patients. Bethesda category was III in 56 nodules (64%), IV in 12 (14%), and V in 19 (22%). The malignancy rate was 46/87 (53%) overall, and 23/56 (41%), 8/12 (75%), and 15/19 (79%) in Bethesda III, IV, and V nodules, respectively. Malignancy rate was higher in solitary nodules (67% vs 37%, P = 0.004) and nodules with irregular margins (100% vs 44%, P < 0.001) or calcifications (82% vs 43%, P = 0.002). American College of Radiology Thyroid Imaging, Reporting and Data System (ACR TI-RADS) risk level TR5 was associated with a higher rate of malignancy than lower TI-RADS risk levels (80% vs 42%, P = 0.002). Within individual Bethesda categories, TI-RADS risk level was not associated with malignancy. No sonographic feature had a negative predictive value for malignancy greater than 80%. CONCLUSIONS: In pediatric thyroid nodules with indeterminate cytology, some sonographic features - including higher ACR TI-RADS risk level - are associated with malignancy, but these associations are unlikely to alter clinical management in most cases.
Assuntos
Neoplasias da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/diagnóstico , Ultrassonografia , Adolescente , Idade de Início , Biópsia por Agulha Fina , Criança , Estudos de Coortes , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Margens de Excisão , Valor Preditivo dos Testes , Radioterapia Adjuvante , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/terapia , Nódulo da Glândula Tireoide/epidemiologia , Nódulo da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/terapia , TireoidectomiaRESUMO
CONTEXT: Thyroid ultrasound screening is recommended in children with PTEN hamartoma tumor syndrome (PHTS) due to increased risk of thyroid neoplasia, but the natural history of thyroid disease in children with PHTS is unclear. OBJECTIVE: Determine the prevalence and natural history of thyroid disease in children with PHTS. METHODS: Retrospective cohort study (1998-2019) in an academic pediatric hospital of individuals with genetically confirmed PHTS diagnosed before age 19 years. Clinical, thyroid ultrasound, and laboratory characteristics are described. Primary outcomes were the prevalence of thyroid nodules ≥10 mm diameter and time course and risk factors for nodule development assessed by Cox regression analysis. Secondary outcomes included thyroid nodule requiring biopsy, other ultrasound findings, and prevalence of autoimmune thyroid disease. RESULTS: Among 64 subjects with PHTS, 50 underwent thyroid ultrasound. A thyroid nodule ≥10 mm was diagnosed in 22/50 (44%) subjects at median (range) age 13.3 (7.0-22.9) years. Nodules were diagnosed earlier in females than in males (10.8 [7.0-17.9] vs 14.2 [9.9-22.9] years, P = .009). In multivariate analysis, risk of thyroid nodules was significantly associated with female sex (hazard ratio 2.90, 95% CI 1.16-7.27, P = .02) and inversely associated with the presence of neurologic findings of PHTS (HR 0.27, 95% CI 0.10-0.69, P = .007). Abnormal-appearing lymph nodes with echogenic foci were observed by ultrasound in 20% of subjects, but these were not associated with malignancy. Autoimmune thyroid disease was present in 10/33 (30.3%) of subjects in whom it was assessed. CONCLUSION: Thyroid disease is common in children with PHTS. This study supports current consensus recommendations for ultrasound screening.
Assuntos
Síndrome do Hamartoma Múltiplo/epidemiologia , Síndrome do Hamartoma Múltiplo/patologia , Doenças da Glândula Tireoide/epidemiologia , Doenças da Glândula Tireoide/patologia , Adolescente , Adulto , Criança , Estudos de Coortes , Progressão da Doença , Feminino , Síndrome do Hamartoma Múltiplo/complicações , Síndrome do Hamartoma Múltiplo/genética , Humanos , Masculino , PTEN Fosfo-Hidrolase/genética , Prevalência , Estudos Retrospectivos , Fatores de Risco , Doenças da Glândula Tireoide/diagnóstico , Doenças da Glândula Tireoide/etiologia , Ultrassonografia , Estados Unidos/epidemiologia , Adulto JovemRESUMO
CONTEXT: Total thyroidectomy is recommended for children with papillary thyroid carcinoma, partly because of a high prevalence of bilateral disease. Identifying characteristics that predict bilateral disease might identify candidates for more limited surgery. OBJECTIVE: Investigate associations of preoperative or histopathological characteristics with bilateral disease in children with differentiated thyroid cancer. METHODS: Retrospective cohort study (1998-2020) at 2 academic hospitals. Patients <19 years who underwent total thyroidectomy for differentiated thyroid cancer were included. Clinical, sonographic, and histopathological characteristics were evaluated. The presence of bilateral disease on histopathology was assessed by univariable analysis and multivariable logistic regression. RESULTS: One hundred and fifteen subjects were analyzed (90% with papillary carcinoma). Median (range) age at diagnosis was 15.0 (8.1-18.9) years. Bilateral disease was present in 47/115 subjects (41%). Bilateral disease was associated with solid parenchyma, calcifications, irregular margins, and abnormal lymph nodes detected by ultrasound, Bethesda class V/VI cytology, papillary histology, tumor multifocality in the primary lobe, extrathyroidal extension, lymphovascular invasion, and nodal metastases. In multivariable analysis, only multifocality in the primary lobe was independently associated with bilateral disease (OR 7.61, 95% CI 2.44-23.8, Pâ <â .001). Among clinically node-negative subjects with papillary carcinoma who did not have tumor multifocality in the primary lobe, bilateral disease was present in 5/32 (16%). CONCLUSIONS: In children with differentiated thyroid cancer, tumor multifocality in the primary lobe is associated with bilateral disease and should prompt consideration of completion thyroidectomy after initial lobectomy. Clinically node-negative children with tumors that are unifocal in the primary lobe have a low likelihood of contralateral disease.
Assuntos
Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Tireoidectomia , Adolescente , Criança , Feminino , Humanos , Modelos Logísticos , Linfonodos/patologia , Metástase Linfática/patologia , Masculino , Estudos Retrospectivos , Câncer Papilífero da Tireoide/cirurgia , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgiaRESUMO
OBJECTIVES: Graves' disease (GD) is rare in children under age five years. Antithyroid drugs are typically first-line therapy but carry the risks of agranulocytosis and liver dysfunction. CASE PRESENTATION: A male infant with multiple congenital anomalies, left ventricular hypertrophy, and neurologic dysfunction developed GD at five months of life. The presence of chronic hepatitis complicated medical management. Potassium iodide was effective temporarily, but urgent thyroidectomy was required at nine months of age. Postoperatively, the patient developed a thyroid function pattern consistent with impaired pituitary sensitivity to thyroid hormone (TH) that responded to the addition of liothyronine. Exome sequencing revealed a heterozygous de novo duplication of the ATAD3 gene cluster, suggesting a possible mitochondrial disorder. CONCLUSIONS: This case describes the youngest child to date to be diagnosed with endogenous GD and to successfully undergo definitive treatment with thyroidectomy. An underlying defect in mitochondrial function is suspected, suggesting a potential novel pathophysiologic link to early-onset thyroid autoimmunity. Additionally, this case illustrated the development of impaired pituitary sensitivity to TH following thyrotoxicosis of postnatal onset, which may contribute to our understanding of hypothalamic-pituitary-thyroid (HPT) axis development.
Assuntos
Doença de Graves/terapia , ATPases Associadas a Diversas Atividades Celulares/genética , Doença de Graves/genética , Doença de Graves/metabolismo , Humanos , Lactente , Masculino , Proteínas de Membrana/genética , Proteínas Mitocondriais/genética , Tireoidectomia , Tiroxina/sangueRESUMO
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. Given the range of features previously described for KAT6B-related syndromes, we have identified additional phenotypes including concern for keratoconus, sensitivity to light or noise, recurring infections, and fractures in greater numbers than previously reported. We surveyed clinicians to qualitatively assess the ways families engage with genetic counselors upon diagnosis. We found that 56% (10/18) of individuals receive diagnoses before the age of 2 years (median age = 1.96 years), making it challenging to address future complications with limited accessible information and vast phenotypic severity. We used CRISPR to introduce truncating variants into the KAT6B gene in model cell lines and performed chromatin accessibility and transcriptome sequencing to identify key dysregulated pathways. This study expands the clinical spectrum and addresses the challenges to management and genetic counseling for patients with KAT6B-related disorders.
Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Histona Acetiltransferases/genética , Mutação , Fenótipo , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Alelos , Blefarofimose/diagnóstico , Blefarofimose/genética , Estudos de Coortes , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/genética , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Fácies , Aconselhamento Genético , Loci Gênicos , Genótipo , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Instabilidade Articular/diagnóstico , Instabilidade Articular/genética , Rim/anormalidades , Masculino , Patela/anormalidades , Transtornos Psicomotores/diagnóstico , Transtornos Psicomotores/genética , Escroto/anormalidades , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/genéticaRESUMO
Background: The Bethesda System for Reporting Thyroid Cytopathology (BSRTC) is used to interpret fine-needle aspiration (FNA) cytology of thyroid nodules in children and adults. Nodule management is guided by the implied malignancy risk of each cytological category, which has been derived from adult populations. Whether these implied risks are applicable to pediatric thyroid nodules remains uncertain. We compared malignancy rates between pediatric and adult thyroid nodules within each cytological category. Methods: We evaluated consecutive thyroid nodules ≥1 cm that underwent FNA at the Boston Children's Hospital and Brigham and Women's Hospital from 1998 to 2016. All cytology was interpreted by a single cytopathology group according to the BSRTC. Malignancy rates were compared between pediatric (<19 years) and adult (≥19 years) patients. Results: Four hundred thirty pediatric thyroid nodules and 13,415 adult nodules were analyzed. Pediatric nodules were more likely to be malignant than adult nodules (19% vs. 12%, p = 0.0002). Within cytological categories, malignancy rates were higher in pediatric nodules than in adult nodules that were cytologically nondiagnostic (11% vs. 4%, p = 0.03), atypia of undetermined significance (AUS; 44% vs. 22%, p = 0.004), or suspicious for follicular neoplasm (SFN; 71% vs. 28%, p = 0.001). There were no significant differences between children and adults in the types of thyroid cancers diagnosed in these cytological categories. Among cytologically benign nodules, the difference in malignancy rates was statistically significant but clinically minimal (0.7% vs. 1%, p = 0.001). Malignancy rates did not differ between children and adults among nodules with cytology suspicious for papillary carcinoma (73% vs. 68%, p = 0.67) or positive for malignancy (97% vs. 95%, p = 1). Among the subset of nodules that were resected, the malignancy rate was higher in children than in adults only in nodules that were SFN (71% vs. 36%, p = 0.007). Conclusions: Among thyroid nodules that are cytologically AUS, SFN, or nondiagnostic, malignancy rates are higher in children than in adults. These discrepancies likely represent true differences in malignancy risk between pediatric and adult patients, rather than differences in cytological interpretation. Our findings provide pediatric-specific data to inform the optimal management of thyroid nodules in children, which may differ from that of adult nodules with equivalent cytology.
Assuntos
Adenocarcinoma Folicular/patologia , Câncer Papilífero da Tireoide/patologia , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/patologia , Adolescente , Adulto , Fatores Etários , Biópsia por Agulha Fina , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Medição de Risco , Carga Tumoral , Adulto JovemRESUMO
Context: In neonates, iatrogenic hypothyroidism can result from topical or IV iodine exposure. Data on intralymphatic iodine exposure, risk factors for disease severity, and timing of hypothyroidism are limited. Case Descriptions: We report 4 cases of premature neonates with previously normal thyroid function tests (TFTs) who developed hypothyroidism after intralymphatic iodinated contrast. Patients 1 and 2, premature infants with complex medical histories, had chylous effusions and high-volume chest tube output requiring imaging with lymphangiograms on day of life (DOL) 97 and DOL 43, respectively. They developed severe, primary hypothyroidism with TSH of 335.7 mIU/mL (reference range, 1.7 to 9.1) on DOL 111 and TSH of 470.2 mIU/mL (reference range, 1.7 to 9.1) on DOL 68. Patient 3 had prenatally diagnosed fetal hydrops manifesting with chylous effusions and high-volume chest tube output. The infant underwent lymphangiography on DOL 90 and was noted to have an elevated TSH of 13.35 mIU/mL (reference range, 1.7 to 9.1) 4 days later with spot urine iodine of 1742 µg/L (normal, <200). Patient 4 had a lymphatic malformation and underwent sclerotherapy with doxycycline with intralymphatic iodine exposure on DOL 4 and was found to have a TSH of 16.7 µU/mL (reference range, 1.7 to 9.1) 3 days later with spot urine iodine of 228,712 µg/L (normal, <200). The TFT results for all patients improved after levothyroxine administration. Conclusion: Intralymphatic iodine should be considered a major risk factor in the development of iatrogenic primary hypothyroidism, especially in premature neonates soon after exposure. Close monitoring of TFTs is imperative to avoid potential long-term adverse outcomes in this population.