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Acquired hypothyroidism due to iodine deficiency is extremely rare in the United States due to the introduction of table salt iodization in the 1920s (Leung et al., 2012). We present the case of an adolescent male with a history of mild autism spectrum disorder and an extremely restrictive diet who was found to have iodine deficiency as the etiology for his rapidly enlarging goiter and antibody-negative hypothyroidism. Thyroid-stimulating hormone (TSH) was 416 µIU/mL (0.350-5.500 µIU/mL), free thyroxine (T4) was <0.1 ng/dL (0.80-1.80 ng/dL), and triiodothyronine (T3) was 41 ng/dL (82-213 mg/dL) at diagnosis. The patient's 24-hour urinary iodine was undetectable. He was started on iodine supplementation with rapid visible improvement of goiter within two weeks and normalization of thyroid function tests within four weeks. Thorough dietary history and nutritional screening are important in cases of acquired hypothyroidism and/or goiter. Alternatively, diets that are low in iodized salt, dairy, bread, and seafood should raise concern for iodine deficiency, and patients with suspected or proven iodine deficiency should be screened for hypothyroidism.
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INTRODUCTION: While the Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) is the most widely used method for categorizing thyroid nodules, its applicability to children is often debated. We describe our institution's experience utilizing the TBSRTC and examine the rates of malignancy in our population. METHODS: We conducted a retrospective chart review of eligible patients undergoing primary thyroidectomy at a high-volume tertiary care pediatric hospital. All patients had pre-operative fine needle aspiration. RESULTS: Of the 112 patients in our cohort, 85 (76%) were female. The median age was 15.1 years. The patients were divided into groups based on the Bethesda categorization of the fine needle aspirations of their nodules. The percentages of patients whose resection specimens showed evidence of malignancy on the surgical pathology reports were recorded as follows: category I (n = 5): 20%, category II (n = 11): 0%, category III (n = 30): 17%, category IV (n = 13): 31%, category V (n = 17): 94% and category VI (n = 36): 100%. CONCLUSION: Our findings indicate that the malignancy rates at our institution are comparable to those reported by other high-volume studies. When compared with the 2017 TBSRTC data, we found that our results were similar in many categories, with the exception of categories I and V.
Assuntos
Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Criança , Humanos , Feminino , Adolescente , Masculino , Neoplasias da Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/patologia , Estudos Retrospectivos , Nódulo da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/cirurgia , Biópsia por Agulha Fina , Tireoidectomia/métodosRESUMO
OBJECTIVES: The nuances in the technical approach to pediatric thyroidectomy have been sparsely reported in the literature. No previous studies have reported on the rates of unintentional thymic tissue excision during pediatric thyroidectomy. In this study, we sought to describe the rates of thymic tissue excision noted on surgical specimens from pediatric thyroidectomies and investigate any correlations with preoperative factors and long-term outcomes. METHODS: A retrospective chart review was conducted of patients who underwent thyroidectomy at a tertiary care children's hospital between January 2010 and October 2020. Presence of thymic tissue (PTT) was defined as any pathologist-documented evidence of thymic tissue in the surgical specimen. Patient characteristics, operative details, and disease related datapoints were investigated for any correlation with PTT. RESULTS: Of the 209 patients who underwent thyroidectomy in the study period, 53 (25%) had PTT. After conducting a stepwise multivariate analysis, those with a concomitant central neck dissection had 3.3 times the odds of having PTT as compared to those with no neck dissection (p = 0.013, 95%CI: 1.3, 8.3). Additionally, patients with evidence of incidental parathyroidectomy had 8.99 times the odds of also having PTT as compared to those without IPE (p < 0.001, 95%CI: 4.0, 20.1). CONCLUSION: This is the first report analyzing the rate of thymic tissue excision during pediatric thyroidectomy. Thyroid surgeons should be prepared to encounter thymic tissue during pediatric cases and be aware of its associated risk of incidental parathyroid gland excision and dissection of tissue beyond intended surgical limits.
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Hipocalcemia , Neoplasias da Glândula Tireoide , Criança , Humanos , Hipocalcemia/etiologia , Incidência , Esvaziamento Cervical/efeitos adversos , Glândulas Paratireoides/cirurgia , Paratireoidectomia/efeitos adversos , Complicações Pós-Operatórias/cirurgia , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/efeitos adversosRESUMO
BACKGROUND: The impact of thyroid nodule size is less useful in children who have smaller thyroid volumes than in adults. We investigate using a novel thyroid tumor ratio measurement in children with thyroid cancer. METHODS: Patient and pathologic characteristics were investigated via Student's t-test in a univariate analysis for any correlation with the log-transformed tumor ratio, followed by a multivariate linear regression. RESULTS: Of 75 patients with malignancy and tumor ratio information, mean ratio decreased with increasing age (p = 0.04). Out of several clinical factors, patients with lymph node metastases and those treated with postoperative radioactive iodine had significantly higher mean tumor ratios on multivariate analysis (p = 0.04 for both factors). CONCLUSIONS: Our study is the first to describe thyroid tumor volume in pediatric thyroid cancer and shows that increased tumor ratio was associated with indicators of more advanced disease such as lymph node metastases and use of radioactive iodine.
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Neoplasias da Glândula Tireoide , Adulto , Criança , Humanos , Radioisótopos do Iodo/uso terapêutico , Metástase Linfática , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgia , TireoidectomiaRESUMO
OBJECTIVE: Incidental parathyroidectomy is a relatively common occurrence in thyroid surgery, which may lead to hypoparathyroidism and postoperative hypocalcemia, but it is not well studied in children. The objectives of this study were to determine the rate of incidental parathyroidectomy, identify potential risk factors, and investigate postoperative complications in children undergoing thyroidectomy. STUDY DESIGN: Retrospective cohort study. SETTING: Patients who underwent thyroidectomy over a 10-year period at a tertiary children's hospital. METHODS: Pathology reports were reviewed to determine incidental parathyroid gland tissue. Additional data collected included patient demographics, type of procedure, underlying thyroid pathology, as well as immediate and long-term postoperative clinical outcomes. RESULTS: Of 209 patients, 65 (31%) had incidental parathyroidectomy. Several variables were associated with incidental parathyroidectomy on univariable analysis. However, in the final multivariable model, only thyroidectomy with lymph node dissection was associated with increased odds of having incidental parathyroidectomy (odds ratio, 3.3; P = .04; 95% CI, 1.1-9.8). After a median follow up of 1 year, a significantly higher percentage of patients with incidental parathyroidectomy had evidence of long-term hypoparathyroidism (9/62 [15%] vs 3/144 [2%], P = .001). CONCLUSION: Incidental parathyroidectomy was relatively common in our pediatric thyroidectomy population, which may be a result of several anatomic, clinical, and surgeon-related factors. Close attention to parathyroid preservation with meticulous surgical technique is the most practical method of preventing long-term hypoparathyroidism and hypocalcemia.
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Parathyroid carcinoma is a rare cause of primary hyperparathyroidism amongst children, with only nine previously reported cases. The objective of the study was to present the first pediatric case with a germline CDC73 (formerly known as HRPT2) mutation, and to review the literature. A 14-year-old girl presented with pathologic slipped capital femoral epiphysis (SCFE). The patient was noted to have an elevated calcium level of 3.4 mmol/L (13.4 mg/dL), a parathyroid hormone (PTH) level of 1013 ng/L (1013 pg/mL), and a 3-cm palpable neck mass. Ultrasound and 99mTc-Sestamibi confirmed the suspicion of a parathyroid mass. Intraoperative findings and pathology confirmed the diagnosis of parathyroid carcinoma. Post-operative PTH decreased to 14 ng/L (14 pg/mL). Genetic testing showed a germline 70 G>T HRPT2/CDC73 mutation. This is the first case documenting a germline 70 G>T HRPT2/CDC73 gene mutation in a pediatric parathyroid carcinoma. Patients with sporadic parathyroid carcinoma may benefit from HRPT2/CDC73 gene mutation screening.
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Mutação em Linhagem Germinativa/genética , Neoplasias das Paratireoides/genética , Proteínas Supressoras de Tumor/genética , Adolescente , Feminino , Humanos , Hormônio Paratireóideo/sangue , Neoplasias das Paratireoides/sangue , Neoplasias das Paratireoides/patologia , PrognósticoAssuntos
Endocrinologia , Adolescente , Carcinoma Neuroendócrino , Criança , Pré-Escolar , Anticoncepcionais Orais Combinados/uso terapêutico , Diabetes Mellitus Tipo 1/terapia , Estrogênios , Feminino , Humanos , Hiperandrogenismo/etiologia , Hiperandrogenismo/terapia , Obesidade/etiologia , Obesidade/terapia , Síndrome do Ovário Policístico/complicações , Síndrome do Ovário Policístico/tratamento farmacológico , Progestinas , Sociedades Médicas , Neoplasias da Glândula Tireoide/terapia , Adulto JovemRESUMO
Osteoporosis is a common disease that is characterized by low bone mineral density (BMD). Decreased BMD is associated with increased fracture risk. In adults, normal BMD results from the balance between accrual of peak bone mass (PBM) at the end of adolescence, and subsequent bone loss with age. Although environmental factors play a role, hereditary factors are the major contributors (up to 80%) to the variability in PBM. This review examines the effects of genetics, physical activity and immobilization, smoking, chronic diseases and medications, vitamin D, calcium, and various other dietary factors on bone integrity in children, adolescents, and adults.
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Densidade Óssea/fisiologia , Osso e Ossos/fisiologia , Osteoporose/etiologia , Adolescente , Adulto , Densidade Óssea/genética , Criança , Comportamento Alimentar/fisiologia , Predisposição Genética para Doença , Saúde , Humanos , Osteoporose/genética , Osteoporose/fisiopatologia , Fatores de RiscoAssuntos
Doenças do Sistema Endócrino/genética , Predisposição Genética para Doença , Adolescente , Adulto , Animais , Criança , Congressos como Assunto , Anticoncepção/métodos , Aconselhamento , Doenças do Sistema Endócrino/tratamento farmacológico , Feminino , Humanos , Hipogonadismo/tratamento farmacológico , Hipogonadismo/genética , Masculino , Camundongos , Modelos Biológicos , Obesidade/tratamento farmacológico , Obesidade/etiologia , Obesidade/genética , Puberdade Tardia/tratamento farmacológico , Puberdade Tardia/genética , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/genética , Comportamento Sexual , Sociedades MédicasRESUMO
Physicians and other providers are often confronted with difficult decisions in the area of disclosure. This article examines a hypothetical situation relevant to the practice of pediatric endocrinology. The parents of a child with a disorder of sex development (DSD) wish the physician to treat their child, but without revealing key medical information to the child. Herein, we will explore the legal and ethical responsibilities of a provider to disclose information to an under-age DSD patient and to provide insight on when and how to tell the patient.
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Revelação , Transtornos do Desenvolvimento Sexual , Endocrinologia , Pediatria , Adolescente , Criança , Revelação/ética , Revelação/legislação & jurisprudência , Transtornos do Desenvolvimento Sexual/diagnóstico , Endocrinologia/ética , Endocrinologia/legislação & jurisprudência , Feminino , Humanos , Consentimento Livre e Esclarecido , Masculino , Pais , Direitos do Paciente , Pediatria/ética , Pediatria/legislação & jurisprudência , Relações Médico-Paciente , Revelação da Verdade/éticaAssuntos
Congressos como Assunto , Endocrinologia/tendências , Pediatria/tendências , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/fisiopatologia , Hiperplasia Suprarrenal Congênita/terapia , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/terapia , Criança , Colorado , Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico , Transtorno 46,XY do Desenvolvimento Sexual/epidemiologia , Transtorno 46,XY do Desenvolvimento Sexual/genética , Transtorno 46,XY do Desenvolvimento Sexual/terapia , Endocrinologia/métodos , Endocrinologia/organização & administração , Transtornos do Crescimento/fisiopatologia , Transtornos do Crescimento/terapia , Humanos , Sistemas Neurossecretores/fisiologia , Sistemas Neurossecretores/fisiopatologia , Pediatria/métodos , Pediatria/organização & administração , Fatores de Risco , Sociedades Médicas/organização & administração , Estados UnidosAssuntos
Congressos como Assunto , Endocrinologia/organização & administração , Pediatria/organização & administração , Pediatria/tendências , Sociedades Médicas , Animais , Criança , Colorado , Doenças do Sistema Endócrino/diagnóstico , Doenças do Sistema Endócrino/etiologia , Doenças do Sistema Endócrino/genética , Doenças do Sistema Endócrino/terapia , Endocrinologia/métodos , Endocrinologia/tendências , Humanos , Recém-Nascido , Camundongos , Triagem Neonatal/métodos , Pediatria/métodos , Guias de Prática Clínica como Assunto , Sociedades Médicas/organização & administração , Estados UnidosRESUMO
Obesity is a significant cause of morbidity and mortality worldwide. There has been a significant worsening of the obesity epidemic mainly due to alterations in dietary intake and energy expenditure. Alternatively, cachexia, or pathologic weight loss, is a significant problem for individuals with chronic disease. Despite their obvious differences, both processes involve hormones that regulate appetite. These hormones act on specific centers in the brain that affect the sensations of hunger and satiety. Mutations in these hormones or their receptors can cause substantial pathology leading to obesity or anorexia. Identification of individuals with specific genetic mutations may ultimately lead to more appropriate therapies targeted at the underlying disease process. Thus far, these hormones have mainly been studied in adults and animal models. This article is aimed at reviewing the hormones involved in hunger and satiety, with a focus on pediatrics.
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Envelhecimento , Doenças do Sistema Endócrino/terapia , Adulto , Pesquisa Biomédica/tendências , Criança , Doenças do Sistema Endócrino/congênito , Doenças do Sistema Endócrino/fisiopatologia , Doenças do Sistema Endócrino/prevenção & controle , Endocrinologia/tendências , Feminino , Desenvolvimento Fetal , Humanos , Lactente , Masculino , Gravidez , Complicações na Gravidez/fisiopatologia , Complicações na Gravidez/prevenção & controle , Complicações na Gravidez/terapiaRESUMO
Early detection by newborn screening and appropriate L-thyroxine treatment leads to normal or near-normal neurocognitive outcome in infants with congenital hypothyroidism. Many newborns with congenital hypothyroidism have some residual thyroid hormone production, and even in those with athyreosis, transplacental passage of maternal thyroid hormone offers some protection for a time. Given the serum T4 half-life of 6 days, the neonatal T4 level will fall and disappear over the first 2-3 weeks of life. Thus, there is a crucial 'window of opportunity' to correct the hypothyroidism and minimize the time the brain is exposed to hypothyroxinemia. While there are few truly prospective, randomized clinical trials investigating treatment parameters, studies measuring IQ outcome support a starting L-thyroxine dose of 10-15 microg/kg/day. Further, studies show that the most severely hypothyroid infants are at risk for a 5-20 point decrease in IQ. Such infants may benefit from a starting dose of 12-17 microg/kg/d, which has been shown to normalize T4 in 3 days and TSH in 2 weeks. Target serum T4 or free T4 levels appear to be higher in the first two weeks of treatment. Infants require more frequent laboratory monitoring, every 1-2 months in the first 6 months and every 3-4 months until age 3 years, as the developing brain has a critical dependence on thyroid hormone in the first 2-3 years of life.
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Hipotireoidismo Congênito/terapia , Criança , Pré-Escolar , Hipotireoidismo Congênito/patologia , Humanos , Sistema Hipotálamo-Hipofisário/metabolismo , Sistema Hipotálamo-Hipofisário/fisiologia , Lactente , Recém-Nascido , Deficiência Intelectual/prevenção & controle , Triagem Neonatal , Sistema Hipófise-Suprarrenal/metabolismo , Sistema Hipófise-Suprarrenal/fisiologia , Hormônios Tireóideos/administração & dosagemRESUMO
The differential diagnosis of vomiting and dehydration in the first month of life includes congenital adrenal hyperplasia (CAH) and pyloric stenosis (PS). Each diagnosis may mask the presence of the other, requiring careful evaluation and follow-up. We document the occurrence of CAH and PS in two Hispanic siblings.
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Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/metabolismo , Estenose Pilórica/complicações , Estenose Pilórica/metabolismo , Cloreto de Sódio/metabolismo , Esteroide 21-Hidroxilase/metabolismo , Hiperplasia Suprarrenal Congênita/genética , Alelos , Diagnóstico Diferencial , Éxons/genética , Hispânico ou Latino , Humanos , Hipertrofia/patologia , Recém-Nascido , Masculino , Fenótipo , Reação em Cadeia da Polimerase , Estenose Pilórica/genética , Piloro/patologia , Irmãos , Esteroide 21-Hidroxilase/genética , Vômito/diagnósticoRESUMO
OBJECTIVE: To use the Continuous Glucose Monitoring System (CGMS, MiniMed, Sylmar, Calif) to determine if bedtime blood glucose levels were associated with the occurrence of nocturnal hypoglycemia. STUDY DESIGN: Patients (n = 47, 18 boys, mean age 11.8 +/- 4.6 years) with type 1 diabetes used CGMS for 167 nights. Data were analyzed for glucose =40 or =50 mg/dL, comparing bedtime blood glucose levels of =100 or >100 mg/dL and =150 or >150 mg/dL. RESULTS: A glucose value of =40 mg/dL occurred on 27% of nights and =50 mg/dL on 35% of nights. There was a 2-fold increase (45% vs 22%, P =.015) in the incidence of hypoglycemia with a bedtime glucose =100 mg/dL and a 1.7-fold increase (46% vs 26%, P =.01) with a value of =150 mg/dL; most episodes occurred between 9 PM and 1 AM. There was no difference in hypoglycemia duration (86.4 minutes for glucose =100 mg/dL vs 84.5 minutes for >100 mg/dL, P = NS), and no bedtime glucose value between 110 and 300 mg/dL decreased the incidence of nocturnal hypoglycemia to =10%. The incidence of nocturnal hypoglycemia was similar for patients using insulin pump and injection therapy, and there was no correlation between hemoglobin A1c and incidence or duration of hypoglycemia. CONCLUSIONS: Nocturnal hypoglycemia is frequent, of long duration, associated with bedtime glucose values =100 to 150 mg/dL, and predominately in the early part of the night. CGMS is a useful tool to diagnose asymptomatic nocturnal hypoglycemia.