BACKGROUND Alström syndrome(AS,OMIM ID 203800)is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients.In the Chinese population,there are few reports on the clinical...BACKGROUND Alström syndrome(AS,OMIM ID 203800)is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients.In the Chinese population,there are few reports on the clinical manifestations and pathogenesis of AS.This is the first report on the association between AS and Graves’hyperthyroidism.CASE SUMMARY An 8-year-old Chinese girl was diagnosed with AS.Two years later,Graves’hyperthyroidism developed with progressive liver dysfunction.The patient’s clinical data were collected;DNA from peripheral blood of the proband,parents and sibling was collected for gene mutation detection using the second-generation sequencing method and gene panel for diabetes.The association between the patient’s genotype and clinical phenotype was analyzed.She carried the pathogenic compound heterozygous mutation of ALMS1(c.2296_2299del4 and c.11460C>A).These stop-gain mutations likely caused truncation of the ALMS1 protein.CONCLUSION The manifestation of hyperthyroidism may suggest rapid progression of AS.展开更多
Objective:To investigate the clinical significance of serum thyroid stimulating hormone(TSH) receptor antibody(TRAb) levels in pregnant women with Graves'disease,on neonatal hyperthyroidism. Methods:The clinical d...Objective:To investigate the clinical significance of serum thyroid stimulating hormone(TSH) receptor antibody(TRAb) levels in pregnant women with Graves'disease,on neonatal hyperthyroidism. Methods:The clinical data of 68 pregnant women with Graves' disease and their newborns were retrospectively analyzed.Testing indicators included thyroid function tests and TRAb levels during pregnancy,at delivery,and within 2 weeks after birth.The serum TRAb and T_3,T_4,Free T_3,Free T_4,TSH levels were detected by radio receptor assay(RRA) and electrical chemiluminescence immunoassay(ECLIA),respectively. Results:The results showed that serum TRAb levels of the third trimester of pregnancy was positively correlated with that of the umbilical vein(n = 68,r= 0.8494,P<0.01),and that of the newborns(n = 68, r=0.8286,P<0.01).The incidence of neonatal hyperthyroidism was 11.8%(8/68).The serum TRAb levels in the 8 neonates with hyperthyroidism within 2 weeks after birth were 3 times higher than those in the normal neonates.Of these 8 neonates,2 had 15 times higher serum TRAb levels than those of normal neonates within 2 weeks after birth.The thyroid function and TRAb levels of these 2 neonates were still abnormal 6 months later. Conclusions:The risk of hyperthyroidism in newborn whose mother's TRAb levels were high in the third trimester of pregnancy was increased.This study suggests a significant correlation between TRAb levels in pregnant women with Graves' disease and the severity of neonatal hyperthyroidism.展开更多
Aims: Effectiveness of radioiodine for Graves’ hyperthyroidism (GD) depends on its intrathyroidal persistence, which could be enhanced by lithium by blocking the release of organic iodine and thyroid hormone from the...Aims: Effectiveness of radioiodine for Graves’ hyperthyroidism (GD) depends on its intrathyroidal persistence, which could be enhanced by lithium by blocking the release of organic iodine and thyroid hormone from the thyroid gland. The present aim focused on the effect of the addition of lithium carbonate to 131I therapy in patients with GD. Methods: 100 consecutive patients with GD were randomly assigned to two groups: group (A) patients treated with 131I and group (B) patients treated with 131I plus lithium carbonate. Patients in B group were treated with a dose of 0.5 g per day (2 × 0.25 g) of lithium carbonate for half a month before and after the administration of 131I. Thyroid weight was estimated by ultrasonography and careful palpation of the thyroid. Radiation absorbed dose rate in the front of the neck was measured on days 1530 and 45 after the administration of 131I. Serum concentrations of thyroidstimulation hormone (TSH), fee tri-iodothyrosine (T3) and free thyroxine (T4) were tested on days 30, 45, 90, 180 before and after treatment. Results: After RIT, radiation absorbed dose rate in the front of neck gradually decreased as time went on (p 0.05), free T3 and free T4 values in both groups rose significantly one month after treatment (all p 0.05). Cure rate of hyperthyroidism was achieved in 36 of the 50 patients (72%) treated with 131I alone and in 38 of the 50 patients (76%) treated with 131I plus lithium. Conclusion: We suggest that for patients withdrawing of ATD and those with short effective half-time, as well as those intolerant or invalid, the short term addition of lithium to 131I allows for a better control of thyrotoxia and the completeness of treatment.展开更多
Resistance to Thyroid Hormone (RTH) is a rare form of hormone resistance secondary to changes in the genes encoding thyroid hormone receptors. The two subtypes, Pituitary RTH (PRTH) and Generalized RTH (GRTH), cause c...Resistance to Thyroid Hormone (RTH) is a rare form of hormone resistance secondary to changes in the genes encoding thyroid hormone receptors. The two subtypes, Pituitary RTH (PRTH) and Generalized RTH (GRTH), cause clinically distinguishable patient presentations. In PRTH, typically only the pituitary gland is resistant to thyroid hormone (TH) while the rest of the body maintains sensitivity. Selective pituitary resistance to thyroid hormone results in dysregulation of thyroid hormone homeostasis with clinical presentation as either euthyroid or hyperthyroidism. PRTH is characterized by elevated thyroid hormone levels with an elevated or inappropriately normal TSH concentration. Herein we describe a case report of a 70-year-old woman who complained of weight loss of over 35 lbs., palpitations, jitters, hair loss, diarrhea, fatigue, muscle weakness, etc. over 6 months, thus, indicating the presence of iatrogenic hyperthyroidism while receiving levothyroxine 175 ug daily prescribed by her primary care provider because of a reported history of “Graves disease” treated by radioactive iodine ablation of the thyroid several years ago. The daily dose of levothyroxine had been increased gradually at an interval of 3 months over a year because of persistent elevation of serum TSH level. Laboratory tests revealed markedly elevated Free T4, Free T3 and TSH levels, along with low concentrations of all lipid fractions, serum creatinine and urea nitrogen levels, indicating TSH induced hyperthyroidism or PRTH. Further testing documented a mutation of thyroid hormone receptor beta gene 2 confirming presence of PRTH. We believe that the initial diagnosis of Graves Disease was erroneous and I-131 ablation further confounded and missed the diagnosis of PRTH. Thus, the purpose of this report is to report a patient with PRTH and describe potential pitfalls in diagnosis and management of this rare disorder.展开更多
<strong>Background:</strong> Alternating thyroid function between hypo- and hyperthyroidism is a very rare phenomenon attributed to the switch between the types of thyroid stimulating hormone receptor auto...<strong>Background:</strong> Alternating thyroid function between hypo- and hyperthyroidism is a very rare phenomenon attributed to the switch between the types of thyroid stimulating hormone receptor autoantibodies;thyroid stimulating antibody and thyroid stimulating hormone blocking antibody. <strong>Case Presentation:</strong> We report an 18 years old male who presented with hyperthyroidism attributed to Graves’ disease. He was treated with antithyroid medication. During follow up, his thyroid function was switching between hyper- and hypothyroidism which was difficult to treat with antithyroid medication. His laboratory investigations revealed high thyroid stimulating immunoglobulin and TSH binding inhibitory immunoglobulin. Due to the difficultly of managing him with antithyroid medication, he was offered a definitive management for his Graves’ disease. <strong>Conclusion:</strong> This case demonstrates a rare challenging presentation of Graves’ disease. Patients presenting with fluctuation in thyroid function between hyper-and hypothyroidism need a definitive management for Graves’ disease.展开更多
<div style="text-align:justify;"> <span style="font-family:Verdana;"><strong>Background:</strong> The <sup>99m</sup>TcO<sub>4</sub><sup style=&quo...<div style="text-align:justify;"> <span style="font-family:Verdana;"><strong>Background:</strong> The <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> thyroid scintigraphy is commonly used for hyperthyroidism diagnosis. Uptake value of <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> on thyroid scintigraphy is an indicator of hyperthyroidism activity. Although, the correlation between free T3 value and free T4 value is not necessary clear in primary hyperthyroidism. <strong>Introduction: </strong>This study investigated the correlation between results of blood test and uptake of <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> on thyroid scintigraphy in primary hyperthyroidism. <strong>Methodlogy: </strong>In this retrspective study, uptake was calculated in patients diagnosed with primary hyperthyroidism (Graves’ disease/Basedow’s disease) based on clinical findings, blood tests, thyroid ultrasound, and <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> thyroid scintigraphy (uptake ≥3%) at St. Marianna University School of Medicine Hospital between 1 January 2010 and 31 December 2019. This uptake of <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> was compared with results of blood tests. <strong>Results:</strong> Fifty-four consecutively arriving patients at the hospital (12 men, 42 women;mean age 43.0 ± 14.0 years) were selected. Free T3 (n = 54) was 14.6 ± 6.8 pg/mL, free T4 (n = 53) was 5.0 ± 2.3 ng/mL, and uptake on thyroid scintigraphy was 10.0% ± 7.1%. The correlation coefficients were 0.60 (p < 0.01) between free T4 (all case), 0.39 (p < 0.01) between free T4 (under 7 ng/mL), 0.12 (p = 0.70) between free T4 (above 7 ng/mL) and <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> thyroid scintigraphy uptake. <strong>Conclusion:</strong> In primary hyperthyroidism (Graves’ disease), there is a correlation between free T4 value and <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> thyroid scintigraphy uptake, but there is no correlation in patients with high free T4 level.</span> </div>展开更多
文摘BACKGROUND Alström syndrome(AS,OMIM ID 203800)is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients.In the Chinese population,there are few reports on the clinical manifestations and pathogenesis of AS.This is the first report on the association between AS and Graves’hyperthyroidism.CASE SUMMARY An 8-year-old Chinese girl was diagnosed with AS.Two years later,Graves’hyperthyroidism developed with progressive liver dysfunction.The patient’s clinical data were collected;DNA from peripheral blood of the proband,parents and sibling was collected for gene mutation detection using the second-generation sequencing method and gene panel for diabetes.The association between the patient’s genotype and clinical phenotype was analyzed.She carried the pathogenic compound heterozygous mutation of ALMS1(c.2296_2299del4 and c.11460C>A).These stop-gain mutations likely caused truncation of the ALMS1 protein.CONCLUSION The manifestation of hyperthyroidism may suggest rapid progression of AS.
文摘Objective:To investigate the clinical significance of serum thyroid stimulating hormone(TSH) receptor antibody(TRAb) levels in pregnant women with Graves'disease,on neonatal hyperthyroidism. Methods:The clinical data of 68 pregnant women with Graves' disease and their newborns were retrospectively analyzed.Testing indicators included thyroid function tests and TRAb levels during pregnancy,at delivery,and within 2 weeks after birth.The serum TRAb and T_3,T_4,Free T_3,Free T_4,TSH levels were detected by radio receptor assay(RRA) and electrical chemiluminescence immunoassay(ECLIA),respectively. Results:The results showed that serum TRAb levels of the third trimester of pregnancy was positively correlated with that of the umbilical vein(n = 68,r= 0.8494,P<0.01),and that of the newborns(n = 68, r=0.8286,P<0.01).The incidence of neonatal hyperthyroidism was 11.8%(8/68).The serum TRAb levels in the 8 neonates with hyperthyroidism within 2 weeks after birth were 3 times higher than those in the normal neonates.Of these 8 neonates,2 had 15 times higher serum TRAb levels than those of normal neonates within 2 weeks after birth.The thyroid function and TRAb levels of these 2 neonates were still abnormal 6 months later. Conclusions:The risk of hyperthyroidism in newborn whose mother's TRAb levels were high in the third trimester of pregnancy was increased.This study suggests a significant correlation between TRAb levels in pregnant women with Graves' disease and the severity of neonatal hyperthyroidism.
文摘Aims: Effectiveness of radioiodine for Graves’ hyperthyroidism (GD) depends on its intrathyroidal persistence, which could be enhanced by lithium by blocking the release of organic iodine and thyroid hormone from the thyroid gland. The present aim focused on the effect of the addition of lithium carbonate to 131I therapy in patients with GD. Methods: 100 consecutive patients with GD were randomly assigned to two groups: group (A) patients treated with 131I and group (B) patients treated with 131I plus lithium carbonate. Patients in B group were treated with a dose of 0.5 g per day (2 × 0.25 g) of lithium carbonate for half a month before and after the administration of 131I. Thyroid weight was estimated by ultrasonography and careful palpation of the thyroid. Radiation absorbed dose rate in the front of the neck was measured on days 1530 and 45 after the administration of 131I. Serum concentrations of thyroidstimulation hormone (TSH), fee tri-iodothyrosine (T3) and free thyroxine (T4) were tested on days 30, 45, 90, 180 before and after treatment. Results: After RIT, radiation absorbed dose rate in the front of neck gradually decreased as time went on (p 0.05), free T3 and free T4 values in both groups rose significantly one month after treatment (all p 0.05). Cure rate of hyperthyroidism was achieved in 36 of the 50 patients (72%) treated with 131I alone and in 38 of the 50 patients (76%) treated with 131I plus lithium. Conclusion: We suggest that for patients withdrawing of ATD and those with short effective half-time, as well as those intolerant or invalid, the short term addition of lithium to 131I allows for a better control of thyrotoxia and the completeness of treatment.
文摘Resistance to Thyroid Hormone (RTH) is a rare form of hormone resistance secondary to changes in the genes encoding thyroid hormone receptors. The two subtypes, Pituitary RTH (PRTH) and Generalized RTH (GRTH), cause clinically distinguishable patient presentations. In PRTH, typically only the pituitary gland is resistant to thyroid hormone (TH) while the rest of the body maintains sensitivity. Selective pituitary resistance to thyroid hormone results in dysregulation of thyroid hormone homeostasis with clinical presentation as either euthyroid or hyperthyroidism. PRTH is characterized by elevated thyroid hormone levels with an elevated or inappropriately normal TSH concentration. Herein we describe a case report of a 70-year-old woman who complained of weight loss of over 35 lbs., palpitations, jitters, hair loss, diarrhea, fatigue, muscle weakness, etc. over 6 months, thus, indicating the presence of iatrogenic hyperthyroidism while receiving levothyroxine 175 ug daily prescribed by her primary care provider because of a reported history of “Graves disease” treated by radioactive iodine ablation of the thyroid several years ago. The daily dose of levothyroxine had been increased gradually at an interval of 3 months over a year because of persistent elevation of serum TSH level. Laboratory tests revealed markedly elevated Free T4, Free T3 and TSH levels, along with low concentrations of all lipid fractions, serum creatinine and urea nitrogen levels, indicating TSH induced hyperthyroidism or PRTH. Further testing documented a mutation of thyroid hormone receptor beta gene 2 confirming presence of PRTH. We believe that the initial diagnosis of Graves Disease was erroneous and I-131 ablation further confounded and missed the diagnosis of PRTH. Thus, the purpose of this report is to report a patient with PRTH and describe potential pitfalls in diagnosis and management of this rare disorder.
文摘<strong>Background:</strong> Alternating thyroid function between hypo- and hyperthyroidism is a very rare phenomenon attributed to the switch between the types of thyroid stimulating hormone receptor autoantibodies;thyroid stimulating antibody and thyroid stimulating hormone blocking antibody. <strong>Case Presentation:</strong> We report an 18 years old male who presented with hyperthyroidism attributed to Graves’ disease. He was treated with antithyroid medication. During follow up, his thyroid function was switching between hyper- and hypothyroidism which was difficult to treat with antithyroid medication. His laboratory investigations revealed high thyroid stimulating immunoglobulin and TSH binding inhibitory immunoglobulin. Due to the difficultly of managing him with antithyroid medication, he was offered a definitive management for his Graves’ disease. <strong>Conclusion:</strong> This case demonstrates a rare challenging presentation of Graves’ disease. Patients presenting with fluctuation in thyroid function between hyper-and hypothyroidism need a definitive management for Graves’ disease.
文摘<div style="text-align:justify;"> <span style="font-family:Verdana;"><strong>Background:</strong> The <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> thyroid scintigraphy is commonly used for hyperthyroidism diagnosis. Uptake value of <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> on thyroid scintigraphy is an indicator of hyperthyroidism activity. Although, the correlation between free T3 value and free T4 value is not necessary clear in primary hyperthyroidism. <strong>Introduction: </strong>This study investigated the correlation between results of blood test and uptake of <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> on thyroid scintigraphy in primary hyperthyroidism. <strong>Methodlogy: </strong>In this retrspective study, uptake was calculated in patients diagnosed with primary hyperthyroidism (Graves’ disease/Basedow’s disease) based on clinical findings, blood tests, thyroid ultrasound, and <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> thyroid scintigraphy (uptake ≥3%) at St. Marianna University School of Medicine Hospital between 1 January 2010 and 31 December 2019. This uptake of <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> was compared with results of blood tests. <strong>Results:</strong> Fifty-four consecutively arriving patients at the hospital (12 men, 42 women;mean age 43.0 ± 14.0 years) were selected. Free T3 (n = 54) was 14.6 ± 6.8 pg/mL, free T4 (n = 53) was 5.0 ± 2.3 ng/mL, and uptake on thyroid scintigraphy was 10.0% ± 7.1%. The correlation coefficients were 0.60 (p < 0.01) between free T4 (all case), 0.39 (p < 0.01) between free T4 (under 7 ng/mL), 0.12 (p = 0.70) between free T4 (above 7 ng/mL) and <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> thyroid scintigraphy uptake. <strong>Conclusion:</strong> In primary hyperthyroidism (Graves’ disease), there is a correlation between free T4 value and <sup>99m</sup>TcO<sub>4</sub><sup style="margin-left:-7px;">-</sup> thyroid scintigraphy uptake, but there is no correlation in patients with high free T4 level.</span> </div>