INTRACRANIAL ARTERIAL OCCLUSIVE LESION IN PATIENTS WITH GRAVES DISEASE

Objective To investigate the distribution and clinical manifestations of intracranial arterial occlusive lesions （IA- OLs）, and their correlation with thyroid function. Methods We enrolled 7 patients who had Graves＇ disease （GD） with IAOLs screened and evidenced by transcranial Doppler, then further confirmed with digital substract angiography in 2 patients and magnetic resonance angiography in 5 patients. Brain magnetic resonance imaging （MRI） was performed in all 7 patients. Three patients were followed up. Results Among 7 patients, 1 was male and 6 were females. The mean age was 32.0 ± 5.5 （ range from 11 to 49） years old. Six of them had symptoms of GD but one was asymptomatic with abnormality of I3, T4, and thyroid stimulating hormone. The lesions of intracranial arteries were symmetrical bilaterally in the intemal carotid artery system in 6 patients, as well as asymmetrical in 1 patient. Terminal internal carotid artery （TICA） were involved in all 7 patients. Middle cerebral artery （MCA） were involved in 3, anterior cerebral artery in 2, and basilar artery in 1 patient. Net-like collateral vessels and mimic moyamoya disease were observed in the vicinity of the occlusive arteries in 2 patients. All patients presented symptoms of ischemic stroke including transient ischemic attack and/or infarction while IA- OLs were found. Three patients had obvious involuntary movements. Brain MRI revealed infarctions located in the cortex, basal ganglion, or hemiovular center in 5 patients. The remaining 2 patients had normal brain MRI. The neurological symptoms were improved concomitant with relief of the thyroid function in 2 patients, while IAOLs were aggravated with deterioration of the thyroid function in 1 patient. Conclusion IAOLs in patients with GD mainly involve intracranial arteries, especially the TICA and MCA, which is similar to moyamoya disease. The neurological symptoms and severity of involved arteries may relieve while the hyperthyroidism is gradually under control.

Selective Pituitary Resistance to Thyroid Hormone: Clinical Hyperthyroidism with High TSH on Levothyroxine Administration in I-131 Ablated “Graves Disease”

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.

Iodine 131 Treatment in Graves’ Disease in a West African Country: Preliminary Study about 25 Cases in Senegal

Introduction: Graves’ disease is the most common cause of hyperthyroidism. Its treatment uses synthetic antithyroid drugs but the use of aggressive radical therapy such as surgery or non-aggressive therapy such as iodine-131 is not uncommon. Treatment of Graves’ disease with radioactive iodine or iratherapy is a simple, inexpensive, well-tolerated treatment. It was introduced in Senegal in 2016. We report through this work the preliminary assessment of the only nuclear medicine service in Senegal in the management of Graves’ disease by iodine-131. Patients and Methods: Retrospective study of the first cases of Graves’ disease treated with iratherapy in Senegal. Socio-demographic, clinical, paraclinical, therapeutic and evolutionary aspects were studied. Radiation protection rules have been implemented and contraception has been effective for six months in women of childbearing age. Results: 25 patients were collected with a mean age of 45 years, twenty women (80%), a family goiter in 24% and a psycho-affective context in 64% of cases. Thyrotoxicosis syndrome was associated with goiter in 68% of patients and exophthalmos in 64%. Thyroid ultrasound performed in 20 patients showed vascular goiter in 80% and thyroid scintigraphy in 3 patients, homogeneous and diffuse hyperfixation. TRAK dosed in 8 patients was still positive. All patients had received first-line medical treatment. The average duration of this treatment was more than 18 months in 92%. The empirically used iodine-131 activity averaged 15.35 mCi. Oral corticosteroid therapy was prescribed in 7 patients for the prevention of malignant orbitopathy. No early side effects were noted. The remission rate at 3 months was 52% and at 6 months was 88% to 92%. Conclusion: The effectiveness of radioactive iodine, in particular ablative doses in the treatment of hyperthyroidism, is no longer to be demonstrated. Taking into account our socioeconomic context, iratherapy should be a treatment of choice for hyperthyroidism with a good quality/price ratio and excellent tolerance.

Multifocal papillary thyroid cancer in Graves’ disease: A case report

BACKGROUND Thyroid cancer is not commonly observed in patients with Graves’disease(GD).The presence of thyroid nodules in GD is not uncommon.However,a link bet-ween these two entities has been reported.Herein,we report the case of a patient with GD and thyroid cancer in Saudi Arabia,which has not been reported previously in our region.CASE SUMMARY A 26-year-old male patient with GD,receiving carbimazole for 2 years,presented to our hospital.His hyperthyroidism was controlled clinically and biochemically.On clinical examination,he was found to have a left-sided thyroid nodule.Ultra-sound revealed a 2.6 cm hypoechoic nodule with high vascularity.He was then referred for fine needle aspiration which showed that the nodule was highly suspicious for malignancy.The patient underwent total thyroidectomy and was diagnosed with multifocal classical micropapillary thyroid cancer.Post thyroid-ectomy he received radioactive iodine ablation along with levothyroxine replace-ment therapy.CONCLUSION Careful preoperative assessment and thyroid gland ultrasound might assist in screening and diagnosing thyroid cancer in patients with GD.

Thyrotoxicosis in patients with a history of Graves'disease after SARS-CoV-2 vaccination(adenovirus vector vaccine):Two case reports

BACKGROUND Vaccines against severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)which were approved for emergency use have been administered on a large scale globally to contain the pandemic coronavirus disease 2019(COVID-19)and to save lives.Vaccine safety is one of the issues under surveillance and a possible correlation between vaccines and thyroid function has been reported.However,reports of the impact of coronavirus vaccines on those with Graves’disease(GD)are rare.CASE SUMMARY This paper presents two patients with underlying GD in remission,both developed thyrotoxicosis and one developed thyroid storm following the adenovirus-vectored vaccine(Oxford-AstraZeneca,United Kingdom).The objective of this article is to raise awareness regarding a possible association between COVID-19 vaccination and the onset of thyroid dysfunction in patients with underlying GD in remission.CONCLUSION Receiving either the mRNA or an adenovirus-vectored vaccine for SARS-CoV-2could be safe under effective treatment.Vaccine induced thyroid dysfunction has been reported,but the pathophysiology still not well understood.Further investigation is required to evaluate the possible predisposing factors for developing thyrotoxicosis especially in patients with underlying GD.However,early awareness of thyroid dysfunction following vaccination could avoid a lifethreatening event.

Autoimmune thyroid diseases and Helicobacter pylori: The correlation is present only in Graves's disease

AIM: To investigate the correlation between autoimmune thyroid diseases (ATDs) and the prevalence of Cag-A positive strains of Helicobacter pylori (H. pylori) in stool samples. METHODS: We investigated 112 consecutive Caucasian patients (48 females and 4 males with Graves' disease and 54 females and 6 males with Hashimoto' s thyroiditis HT), at their first diagnosis of ATDs. We tested for H. pylori in stool samples using an amplified enzyme immunoassay and Cag-A in serum samples using an enzyme-linked immunoassay method (ELISA). The results were analyzed using the two-sided Fisher' s exact test and the respective odds ratio (OR) was calculated. RESULTS: A marked correlation was found between the presence of H. pylori (P ≤ 0.0001, OR 6.3) and, in particular, Cag-A positive strains (P ≤ 0.005, OR 5.3)in Graves' disease, but not in Hashimoto's thyroiditis, where we found only a correlation with Cag-A strains (P ≤ 0.005, OR 8.73) but not when H. pylori was present. CONCLUSION: The marked correlation between H. pylori and Cag-A, found in ATDs, could be dependent on the different expression of adhesion molecules in the gastric mucosa.

Association of Polymorphisms of rs179247 and rs12101255 in Thyroid Stimulating Hormone Receptor Intron 1 with an Increased Risk of Graves' Disease:A Meta-analysis

The polymorphisms of thyroid stimulating hormone receptor（TSHR） intron 1 rs179247 and rs12101255 have been found to be associated with Graves＇ disease（GD） in genetic studies. In the present study, we conducted a meta-analysis to examine this association. Two reviewers systematically searched eligible studies in Pub Med, Web of Science, Embase and China Biomedical Literature Database（CBM）. A meta-analysis on the association between GD and TSHR intron 1 rs179247 or rs12101255 was performed. The odd ratios（OR） were estimated with 95% confidence interval（CI）. Meta package in R was used for the analyses. Seven articles（13 studies） published between 2009 and 2014, involving 5754 GD patients and 5768 controls, were analyzed. The polymorphism of rs179247 was found to be associated with an increased GD risk in the allele analysis（A vs. G： OR=1.40, 95% CI=1.33–1.48） and all genetic models（AA vs. GG： OR=1.94, 95% CI=1.73–2.19; AA＋AG vs. GG： OR=1.57, 95% CI=1.41–1.74; AA vs. AG＋GG： OR=1.54, 95% CI=1.43–1.66）. The site rs12101255 also conferred a risk of GD in the allele analysis（T vs. C： OR=1.50, 95% CI=1.40–1.60） and all genetic models（TT vs. CC： OR=2.22, 95% CI=1.92–2.57; TT＋TC vs. CC： OR=1.66, 95% CI=1.50–1.83; TT vs. TC＋CC： OR=1.74, 95% CI=1.53–1.98）. Analysis of the relationship between rs179247 and Graves＇ ophthalmopathy（GO） showed no statistically significant correlation（A vs. G： OR=1.02, 95% CI=0.97–1.07）. Publication bias was not significant. In conclusion, GD is associated with polymorphisms of TSHR intron 1 rs179247 and rs12101255. There is no association between rs179247 SNPs and GO.

Changes of Regulatory T Cells in Graves' Disease

The immune mechanism of Graves＇ diseases （GD） and the roles of regulator T cells were investigated. In 32 patients with GD （GD group） and 20 healthy volunteers （control group）, flow cytometry was used to detect the proportion of CD4^＋CD25^＋ cells, MACS to isolate CD4^＋ CD25^＋ cells, RT-PCR to assay the expression of FOXP3, and ELISA to test the leyel of IL-10, respectively. It was found that there was no significant change in the proportion of CD4^＋CD25^＋ T cells between GD group and control group （P〉0.05）, while secretion of IL-10 and expression of FOXP3 in GD group were lower than control group （P〈0.01 and P〈0.05, respectively）. In conclusion, though the proportion of regulatory T cells of peripheral blood lymphocytes in the patients with GD, the functions of them were significantly weakened, which might be a pathogenic factor in GD.

Association between TSHR gene polymorphism and the risk of Graves' disease:a meta-analysis

Thyroid stimulating hormone receptor（TSHR） is thought to be a significant candidate for genetic susceptibility to Graves＇ disease（GD）.However,the association between TSHR gene polymorphism and the risk of GD remains controversial.In this study,we investigated the relationship between the two conditions by meta-analysis.We searched all relevant case-control studies in PubMed,Web of Science,CNKI and Wanfang for literature available until May2015,and chose studies on two single nucleotide polymorphisms（SNPs）：rs 179247 and rsl2101255,within TSHR intron-1.Bias of heterogeneity test among studies was determined by the fixed or random effect pooled measure,and publication bias was examined by modified Begg＇s and Egger＇s test.Eight eligible studies with 15 outcomes were involved in this meta-analysis,including 6,976 GD cases and 7,089 controls from China,Japan,Poland,UK and Brazil.Pooled odds ratios（ORs） for allelic comparisons showed that both TSHR rsl79247A/G and rsl2101255T/C polymorphism had significant association with GD（OR=1.422,95%CI=1.353—1.495,P〈0.001,P_（heterogeneity）=0.448;OR= 1.502,95%CI：1.410-1.600,P〈0.001,P_（heterogeneity）=0.642）,and the associations were the same under dominant,recessive and co-dominant models.In subgroup analyses,the conclusions are also consistent with all those in Asian,European and South America subgroups（P〈0.001）.Our meta-analysis revealed a significant association between TSHR rsl79247A/G and rsl2101255T/C polymorphism with GD in five different populations from Asia,Europe and South America.Further studies are needed in other ethnic backgrounds to independently confirm our findings.

Gene Expression of Fas,Soluble Fas and Fas-Ligand in Thyroid Tissues and Thyrocytes from Patients with Graves′ Disease

ObjectiveTo investigate Fas,soluble Fas(sFas)and Fas ligand(Fas L)gene expression in thyroid tissues and thyrocytes from patients with Graves disease(GD)and to find the interrelationship between apoptosis and pathogenesis of GD. MethodsThyroid tissues were obtained from 7 GD patients and 3 healthy subjects who died accidentally. Thyrocytes were cultured in Eagle′s medium. Total RNA was isolated from thyroid tissues and cultured thyrocytes. The cDNA was prepared by reverse transcription and amplified for Fas,sFas and Fas L by polymerase chain reaction(PCR). ResultsFas and sFas mRNA were detected in all samples from both GD and normal thyroid tissues and thyrocytes,but Fas L mRNA was only found in GD thyroid tissues and thyrocytes. Semi quantitative analysis showed that when compared with those of normal controls,the Fas and sFas mRNA levels were markedly increased in GD thyroid tissues(P<0.01),whereas in GD thyrocytes only the sFas mRNA levels was significantly elevated(P<0.01). ConclusionGene expression of Fas,sFas and Fas L showed abnormality in both thyroid tissues and thyrocytes from GD. The increased production of sFas might be involved in the hyperplasia of thyroid gland.

Resistance to Anti-Thyroid Drugs in Graves’ Disease: Clinical-Biological Characteristics and Alternative Therapy in Tropical Area

Background: Resistance to anti-thyroid drugs (ATDs) is a rare entity recently described. We report two African observations in the treatment of Graves’ disease. Case 1: A 19-year-old Senegalese woman presented on admission with thyrotoxicosis syndrome associated with diffuse goitre and Grave’s orbitopathy. TSH levels were low (0.005 mIU/ml;N = 0.27 - 4.20) and fT4 elevated (60 pmol/L;N = 12 - 22]. Combination therapy with propranolol (40 mg/day) and carbimazole (starting dose of 45 mg/day and increased to 60 mg/day) was initiated. In view of the persistence of symptoms despite good therapeutic compliance, carbimazole was replaced by methimazole with an initial starting dose of 40 mg/day, followed by 60 mg/day. Despite the change in therapy, clinical symptoms of thyrotoxicosis persisted, and fT4 levels remained elevated. The patient was diagnosed with resistance to ATDs in Graves’ disease. Total thyroidectomy following 10 days of preoperative preparation with 1% Lugol’s solution was performed successfully. Case 2: A 22-year-old woman was referred for continued management of Graves’ disease with elevated thyroid-stimulating hormone receptor antibody (TRAb) levels (34 UI/mL;N < 1.75). Treatment included propranolol (80 mg/day) and carbimazole at an unusual dose of 80 mg/day. Combined therapy was clinically and biologically ineffective, with an fT4 level of 100 pmol/L [N: 12 - 22]. Upon admission, methimazole (40 mg/day) followed by propylthiouracil (800 mg/day) replaced carbimazole. Despite good patient compliance, the patient’s symptoms remained unaltered and fT4 levels elevated. A total robot thyroidectomy using the right axillary approach was performed successfully after 10 days of preoperative preparation, including prednisone (40 mg/day) combined with 1% Lugol’s solution. Conclusion: Resistance to ATDs complicates the management of Graves’ disease. Total thyroidectomy following preoperative preparation with Lugol’s solution and/or corticosteroids was shown to be successful.

Graves’ Disease in Senegal: Clinical and Evolutionary Aspects

Objectives: To assess the clinical particularities and management of Graves’ disease at the Medical Clinic II of the Abass Ndao Hospital Centre in Dakar. Patients and methods: This was a retrospective, descriptive study on records of patients monitored for Graves' disease from 1 January 2010 to 31 December 2014 (5 years). Socio-demographic, clinical treatment and changing parameters were evaluated. Outcomes: 878 patients were included and among them 542 had been monitored for at least 18 months. The sex ratio (M/F) was 0.2 and the average age was 34.8 ± 12 years. The average consultation period was 10.7 ± 2 months. Free T4 at diagnosis was > 80 pmol/l (36.6%). Prolonged medical treatment was reported in 96.7% of patients. The average dose for initial therapy with Carbimazole was 37 ± 9 mg/day. Beta-blockers were used in 64% and anxiolytics in 40.5% of cases. The average period for administering the maintenance dose was 5.6 months. Patients’ attendance and compliance stood at 17.7% and 53.1% respectively. Complications, mainly cardiothyreosis, were found in 13% of cases. Goitre regression was found in 13.9% of cases and that of exophthalmos stood at 19.5%. Among our patients, 38.2% were lost to follow-up. The remission rate was 36.5% and thyroidectomy involved 14.5% of patients. Only stage of goiter (p = 0.007) and initial free T4 value (p = 0.003) were statistically associated with remission. Conclusion: Graves’ disease management raises follow-up problems. Indeed, the medical treatment is long while the number of patients lost to follow-up is high. As the only radical alternative available is surgery, it is therefore essential to promote the development of radioactive iodine therapy to expand the therapeutic choice.

Effect of Dihydrotestosterone on Costimulatory Molecules in a Mouse Model of Graves’ Disease

Objective Graves’disease is the most common autoimmune thyroid disease and its prevalence and clinical manifestations are disparate between females and males.Costimulatory molecules play an essential role in regulating autoimmune responses.The objective of this study was to determine if expression of inhibitory molecules was correlated with treatment by dihydrotestosterone(DHT)in an in vivo BALB/c mouse model of experimental autoimmune Graves’disease.Methods Female BALB/c mice were immunized three times with thyroid stimulating hormone receptor A-subunit encoded by adenovirus to establish a Graves’disease model.Three different doses of DHT or a matching placebo were administered by implantation of slow-release pellets a week before the first immunization.Four weeks after the third immunization,the mice were euthanatized,and then the spleen and thymus were removed.Total thyroxine and free thyroxine levels in serum of mice were detected using a radioimmunoassay kit.Real-time polymerase chain reaction was performed to estimate the expression of costimulatory molecules in lymphocytes from the spleen and thymus.Flow cytometry was used to analyze the percentage of CD4^+T cells in splenic lymphocytes.Quantitative data were compared with unpaired t-tests.Correlation between two variables was analyzed using Analysis of Variance.Results Treatment with DHT can dramatically reduce total thyroxine and free thyroxine levels.Higher expression of programmed death-1 was found in the spleen of Graves’disease mice receiving 5 mg of DHT treatment(0.635±0.296 vs.0.327±0.212;t=2.714,P=0.014),similarly,T-cell immunoglobulin domain and mucin domain 3(TIM-3)in both the spleen(1.004±0.338 vs.0.646±0.314;t=2.205,P=0.022)and the thymus(0.263±0.127 vs.0.120±0.076;t=3.221,P=0.004)also increased after 5 mg of DHT treatment compared with the parallel placebo model mice.Moreover,the percentage of CD4^+T cells declined in the splenic lymphocytes of Graves’disease mice treated with 5 mg of DHT(19.90%±3.985%vs.24.05%±2.587%;t=2.804,P=0.012).A significant negative association was observed between expression of TIM-3 in the spleen and serum levels of total thyroxine(r=-0.7106,P=0.014)as well as free thyroxine(r=-0.6542,P=0.029).Conclusion This study demonstrates that DHT can ameliorate experimental autoimmune Graves’disease,which may occur by up-regulating expression of programmed death-1 and TIM-3 and inhibiting development of CD4^+T cells.

EXPRESSION OF T CELL RECEPTOR V _α GENE FAMILIES IN INTRATHYROIDAL T CELLS OF CHINESE PATIENTS WITH GRAVES’ DISEASE

Patients with Graves’ disease (GD) have marked lymphocytic infiltration in their thyroid glands We examined the gene for the variable regions of the α chain of the Chinese T cell receptor(V α gene) in intrathyroidal T cells to determine the role of T cells in the pathogenesis of GD and offer potential for the development of immunotherapeutic remedies for GD Methods. We used the reverse transcription and polymerase chain reaction(RT PCR) to amplify complementary DNA(cDNA) for the 18 known families of the V α gene in intrathyroidal T cells from 5 patients with Graves’ disease The findings were compared with the results of peripheral blood T cells in the same patients as well as those in normal subjects Results. We found that marked restriction in the expression of T cell receptor V α genes by T cells from the thyroid tissue of Chinese patients with GD(P<0 001) An average of only 4 6±1 52 of the 18 V α genes were expressed in such samples, as compared with 10 4±2 30V α genes expressed in peripheral blood T cells from the same patients The pattern of expressed V α genes differed from patient to patient with no clear predominance Conclusions. Expression of intrathyroidal T cell receptor V α genes in GD is highly restricted suggesting the primacy of T cells in causing the disorders

Acute myocarditis presenting as accelerated junctional rhythm in Graves’disease:A case report

BACKGROUND Acute myocarditis is an acute myocardium injury that manifests as arrhythmia,dyspnea,and elevated cardiac enzymes.Acute myocarditis is usually caused by a viral infection but can sometimes be caused by autoimmunity.Graves’disease is an autoimmune disease that is a rare etiology of acute myocarditis.Accelerated junctional rhythm is also a rare manifestation of acute myocarditis in adults.CASE SUMMARY A rare case of new-onset Graves’disease combined with acute myocarditis and thyrotoxic periodic paralysis is reported.The patient was a 25-year-old young man who suddenly became paralyzed and felt palpitations and dyspnea.He was then sent to our emergency department(ED).Upon arrival,electrocardiography revealed an accelerated junctional rhythm and ST-segment depression in all leads,and laboratory findings showed extreme hypokalemia and elevated troponin I,with the troponin I level being 0.32 ng/mL(reference range,0-0.06 ng/mL).Coronary computer tomography angiography was performed,and there were no abnormal findings in the coronary arteries.Subsequently,the patient was admitted to the ED ward,where further testing revealed Graves’disease,along with continued elevated cardiac enzyme levels and B-type natriuretic peptide(BNP)levels.The troponin I level was 0.24 ng/mL after admission.All of the echocardiography results were normal:Left atrium 35 mm,left ventricle 48 mm,end-diastolic volume 102 mL,right atrium 39 mm×47 mm,right ventricle 25 mm,and ejection fraction 60%.Cardiac magnetic resonance was performed on the fifth day of admission,revealing myocardial edema in the lateral wall and intramyocardial and subepicardial late gadolinium enhancement in the lateral apex,anterior lateral,and inferior lateral segments of the ventricle.The patient refused to undergo an endomyocardial biopsy.After 6 d,the patient’s cardiac enzymes,BNP,potassium,and electrocardiography returned to normal.After the patient’s symptoms were relieved,he was discharged from the hospital.During a 6-mo follow-up,the patient was asymptomatic and subjected to thyroid function,liver function,kidney function,troponin I,and electrocardiograph routine tests for medicine adjustments.The hyperthyroid state was controlled.CONCLUSION Acute myocarditis is a rare manifestation of Graves’disease.Accelerated junctional rhythm is also a rare manifestation of acute myocarditis in adults.When the reason for hypokalemia and elevated cardiac enzymes in patients is unknown,cardiologists should consider Graves’disease and also pay attention to accelerated junctional rhythm.

Congenital lipoid adrenal hyperplasia with Graves'disease:A case report

BACKGROUND Congenital adrenal hyperplasia(CAH),which is caused by a mutation of the steroidogenic acute regulatory(StAR)gene.Affected patients are usually characterized by adrenal insufficiency in the first year of life,salt loss,glucocorticoid and mineralocorticoid deficiency,and female external genitalia,regardless of chromosomal karyotype.Patients with non-classical lipoid CAH usually develop glucocorticoid deficiency and mild mineralocorticoid deficiency at 2-4 years of age.CASE SUMMARY Herein,We report the case of a woman with non-classic lipoid CAH combined with Graves’disease.Her chromosome karyotype was 46,XX,and highthroughput sequencing revealed two missense variants in the StAR gene:c.229C>T(p.Q77X)and c.814C>T(p.R272C),which were inherited from both parents(non-close relatives).The patient was treated for Graves’disease in a timely manner and the dosage of glucocorticoid was adjusted during the treatment of Graves’disease.CONCLUSION This is the first case of non-classic lipoid CAH combined with Graves’disease reported in the Chinese population.In addition to conventional glucocorticoid replacement therapy,timely adjustments were made to the dosages of thyroid hormone and glucocorticoid to avoid adrenal crisis as a consequence of the increased demand and accelerated metabolism of glucocorticoids when the patient was diagnosed with Graves’disease.

Graves’ Disease and Down Syndrome: Case Report

Down syndrome (DS) is the most common chromosomal abnormality in humans, and the most frequent cause of mental retardation. Patients affected by this syndrome show an increased prevalence of autoimmune diseases. The most common of those is Hypothyroidism. We present a case report describing the association of Down syndrome with Hyperthyroidism. An 18-year-old patient presented with a history of recurrent throat infections and intermittent diarrhea, having developed a total alopecia areata within one month from the first visit to the physician. After consultations with general practitioners, he was directed to an Endocrinology Ambulatory and diagnosed with a clear case of Graves’ disease associated with Down syndrome. Treatment was started with methimazole 20 mg/day, and after two months, was adjusted to 40 mg/day. The patient reached adequate clinical and laboratory balance after five months of treatment. Thus, the association between Down syndrome and Graves’ Disease is relevant in medical practice, due to its specific characteristics on diagnosis, and the need of an adequate treatment regarding this disease association.

Graves’ Disease in 100 Cases in Conakry: Epidemiological, Clinical, Therapeutic, and Evolutionary Aspects

Context and Objective: Graves’ disease is an autoimmune disorder of the thyroid gland that occurs in genetically predisposed individuals. It represents the most frequent cause of hyperthyroidism with a clear female predominance. The objective of our work was to report the sociodemographic, clinical, therapeutic, and evolutionary characteristics of Graves’ disease at the University Hospital of Conakry. Methods: This was a cross-sectional, descriptive study, over the period from December 2016 to June 2021, at the endocrinology consultation of Donka University Hospital. Epidemiological, clinical, therapeutic, and evolutionary variables of patients followed up for Graves’ disease were collected and analyzed. The diagnosis of Graves’ disease was based on the presence of clinical signs of thyrotoxicosis, diffuse goiter, exophthalmos, and or T-RAK positivity. Results: Graves’ disease was related to 33% of thyroid consultations and 64% of hyperthyroidism. The sex ratio M/F was 0.07. The median age of the patients was 39.4 ± 13 years. The main reason for consultation was thyrotoxicosis syndrome, dominated by cardiovascular signs (92%). TRAK was performed in 38 patients with a positive result in 89%, i.e., a mean level of 17.93 mUI/l. All patients were treated with synthetic antithyroid drugs, with a favorable clinical evolution. Surgery was considered in 4 patients after the stabilization of the thyroid function. The follow-up was considered regular in 49 patients (49%). Conclusion: Graves’ disease is the most frequent hyperthyroidism in Conakry with a clear predominance of women, especially young women. Efforts should be focused on improving diagnosis and the access to treatment for better patient compliance.

Graves’Disease and Marine Lenhart Syndrome:A Rare Clinical Presentation

The aim of this study is to review and discuss the clinical features and treatment options for the Marine-Lenhart syndrome, an uncommon thyroid disturb. The methodology adopted was a bibliographic research. The results of this study show that different mechanisms are implicated in the pathogenesis of Graves’ disease and in the nodular formation of thyroid tissue with functional autonomy. Graves’ disease is caused by an autoimmune process that involves the entire thyroid gland and is characterized by the presence of TSH receptor stimulating antibodies. The present study concludes that caution should be exercised in interpreting thyroid disease in Graves’ disease. The treatment of thyrotoxicosis requires high doses of oral drugs. Relapsing antithyroid therapy occurs soon after oral antithyroid therapy is discontinued. This presentation should alert the physician about the existence of toxic nodules, and about the possibility of a Marine-Lenhart Syndrome.

Evolution of Graves’s Disease: Impact of Socio-Demographic and Clinical Factors in Senegalese Subject

Background: In Graves’s disease, there is a lack of description specific to the gender and age among sub-Saharan African subject. The objective was to evaluate the impact of gender and age on the profile of Graves’ disease in Senegalese subject in order to understand the evolution and improve the therapeutic choices. Methods: This is a retrospective study conducted from January 1, 2010 to December 31, 2017 (07 years) at Abass Ndao University Hospital (Senegal), focused on patients with Graves’ disease followed up under antithyroid drugs treatment for at least 18 months. Results: There were 244 men, 404 subjects between [0 - 25 years], and 101 subjects more than 50 years old. Factors associated with goitre size were male gender (p < 0.001), young age (p < 0.001). Graves orbitopathy was correlated with male gender (p = 0.015), and young age (p < 0.001). Among 580 patients who had stopped medical treatment after more than 18 months of follow-up, relapse involved in 30.3%. Durable remission was achieved in 38.8% of all included patients and 69.7% of subjects who had a cessation of medical treatment. The factors associated with sustained remission were female gender (p = 0.049), absence of orbitopathy (p = 0.011), small goiter (p < 0.001), advanced age (p = 0.006) and early start of the maintenance treatment (p = 0.006). Conclusion: In our Senegalese study, men and young patients are particularized by a trend of voluminous goitre and low rate of remission. These data remain a basis for predicting the outcome of medical treatment and make timely use of radical treatments such as surgery or irratherapy in the presence of risk factors for recurrence.