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Cureus May 2024The Van Wyk-Grumbach syndrome (VWGS) (hypothyroidism, ovarian mass, and precocious puberty) has been extensively documented in the literature as long-term hypothyroidism...
The Van Wyk-Grumbach syndrome (VWGS) (hypothyroidism, ovarian mass, and precocious puberty) has been extensively documented in the literature as long-term hypothyroidism manifesting as an ovarian mass. The authors of this study describe this entity in a young girl, aged 10, who presented with abdominal pain with a multiloculated ovarian cyst. She was evaluated, and it was discovered that she had delayed bone age, precocious puberty, and a small height. Following her diagnosis of autoimmune thyroiditis and the initiation of thyroxine replacement therapy, the ovarian cysts spontaneously regressed. To avoid needless assessment and surgical mishaps, this entity should be considered in situations of ovarian mass, particularly those with precocious puberty and thyroid disorders.
PubMed: 38947684
DOI: 10.7759/cureus.61382 -
Clinical Case Reports Jul 2024In previous reports, hypothyroidism, hypopituitrism, and hypogonadism were common endocrine causes of SCFE, but this is the first time that congenital adrenal...
In previous reports, hypothyroidism, hypopituitrism, and hypogonadism were common endocrine causes of SCFE, but this is the first time that congenital adrenal hyperplasia has been observed. As such, patients who have undergone long-term endocrine treatment for congenital adrenal hyperplasia could potentially be subjected to a higher risk for SCFE.
PubMed: 38947535
DOI: 10.1002/ccr3.9131 -
Cancer Innovation Apr 2024von Hippel-Lindau (VHL) disease is a rare autosomal dominant multiorgan disease characterized by several benign and malignant tumors rich in vascular, as well as cysts...
von Hippel-Lindau (VHL) disease is a rare autosomal dominant multiorgan disease characterized by several benign and malignant tumors rich in vascular, as well as cysts in other organs. A great clinical treatment strategy is significantly warranted for good prognosis of patients with VHL disease. Herein, we reported a case of a 45-year-old woman diagnosed with VHL disease with spinal hemangioblastoma (HB) and clear cell renal cell carcinoma (ccRCC). Four years after the resection of the right kidney, a recurrent RCC in the right kidney and a malignant lesion in the left kidney were observed. This patient was started on sorafenib (800 mg, daily) and tislelizumab (200 mg per 3 weeks). After 6 months of treatment, the size of renal cell carcinoma was dramatically reduced and renal function improved. More importantly, she achieved partial response during the whole treatment. Microscopically, intramedullary masses resection was done and the HB in T4-5 thoracic spinal was removed. Neurologic symptoms such as numbness and pain were remarkably alleviated. Additionally, tislelizumab-induced elevation in liver transaminase levels and hypothyroidism were revered by hepatoprotector and levothyroxine, respectively. In short, comprehensive treatment strategies may benefit patients with VHL disease, especially with HB and ccRCC.
PubMed: 38946932
DOI: 10.1002/cai2.94 -
Mymensingh Medical Journal : MMJ Jul 2024Autoimmune thyroiditis gradually destroys the thyroid gland leading to hypothyroidism and may even lead to papillary thyroid carcinoma. Deficiency of Vitamin D has been...
Autoimmune thyroiditis gradually destroys the thyroid gland leading to hypothyroidism and may even lead to papillary thyroid carcinoma. Deficiency of Vitamin D has been linked to development of autoimmunity. Single nucleotide polymorphisms of the Vitamin D receptor gene have associated with autoimmune diseases in several studies. In this hospital based non interventional cross-sectional study Vitamin D receptor gene was studied for FokI (rs2228570) polymorphism from purified DNA in forty-eight adult cases and fifty age and sex matched healthy controls. This study was conducted in the department of Biochemistry, Calcutta National Medical College, Kolkata, West Bengal, India from January 2021 to July 2022. Their DNA was isolated using phenol chloroform method and were analysed for the related single nucleotide polymorphism by restriction digestion using appropriate restriction enzymes after amplification by PCR. Differences in allele frequencies between two groups were estimated by chi square and odds ratio test. Any potential association between the vitamin D anti TPO antibody and thyroid hormone status with polymorphic variations were assessed by post hoc ANOVA among the three genotypes. The distribution of FF genotype was significantly higher among the case group (Χ²=10.2788, p=0.006). The odds ratio for the allele F was significantly higher in case group for a range of 1.97 to 5.94 for 95 percent confidence interval (Χ²=13.9678, p=<0.001). The genotype FF group had significantly lowest Vitamin D (p=0.008) and highest Anti TPO ab (p=0.031) compared to Ff and ff genotypes. Thus, significant association was revealed between the VDR gene Fok1(rs2228570) polymorphism and autoimmune thyroiditis with the predominance of FF genotype being a strong susceptibility factor for autoimmune thyroiditis and Vitamin D deficiency in the studied population of Eastern India.
Topics: Humans; Receptors, Calcitriol; Thyroiditis, Autoimmune; Male; Female; Adult; Vitamin D; Polymorphism, Single Nucleotide; Cross-Sectional Studies; Case-Control Studies; Middle Aged; India; Genetic Predisposition to Disease; Gene Frequency; Genotype
PubMed: 38944740
DOI: No ID Found -
Mymensingh Medical Journal : MMJ Jul 2024Obesity and hypothyroidism are interlinked. In this prospective study, 142 children and adolescents (mean age 140±34 months, girls 54.2%) either with obesity or...
Obesity and hypothyroidism are interlinked. In this prospective study, 142 children and adolescents (mean age 140±34 months, girls 54.2%) either with obesity or overweight were included from the patients attending at the Endocrine out-patient clinic of Dhaka Shishu (Children) Hospital during a period from March, 2017 to February, 2020 and were assessed for thyroid function. Among them, 85 were obese (Body mass index, BMI >95th percentile), 29 were overweight (BMI between 85th to 95th percentile) and 28 had normal weight (BMI <85th percentile). Girls were more frequent in obese (57.6%) and overweight (51.7%) groups than boys. Mean TSH was not significantly different among the three groups (3.39 vs. 4.01 vs. 4.06mIU/L; p=0.248). Subclinical hypothyroidism was present in 22 cases (15.5%); the frequencies were 3.6% in Group 1, 17.2% in Group 2 and 18.8% in Group 3. Both overweight and obese groups had significantly (p<0.005) higher prevalence of SCH than the normal-weight group. Girls were more frequently affected than boys (72.7% vs. 27.3%, p=0.047). Among the 22 children who had SCH, 2(9.1%) had a mild goiter and higher serum levels of anti-TPO and anti-TG. Serum TSH had no correlations with age, body weight, height, BMI and serum FT₄. The findings indicate that a substantial portion of over weight and obese children and adolescents have SCH and the causes other than thyroid autoimmunity are more prevalent in them.
Topics: Humans; Female; Male; Child; Hypothyroidism; Bangladesh; Adolescent; Prospective Studies; Pediatric Obesity; Body Mass Index; Prevalence; Overweight; Obesity; Thyrotropin
PubMed: 38944727
DOI: No ID Found -
BMC Immunology Jun 2024Previous observational studies have shown a bidirectional association between immune-mediated inflammatory disorders (IMID) and periodontal disease. However, evidence... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Previous observational studies have shown a bidirectional association between immune-mediated inflammatory disorders (IMID) and periodontal disease. However, evidence regarding the causal role of IMID and periodontal disease is still lacking. Therefore, we conducted a bidirectional two-sample Mendelian randomization (MR) study to uncover the potential genetic causal effects between IMID and periodontal disease.
METHODS
Bidirectional two-sample MR analysis was employed. Data for ten IMIDs were sourced from genome-wide association studies (GWAS) conducted by the FinnGen Consortium (range from 1023 to 36321 cases) and UK Biobank (UKB) (range from 150 to 17574 cases). Furthermore, GWAS data for periodontal disease were obtained from the FinnGen Consortium (87497 cases), UKB (458 cases), and Gene Lifestyle Interactions in Dental Endpoints (GLIDE) consortium (17,353 periodontitis cases). Subsequently, the causal relationships were analyzed by random effects inverse variance weighting, weighted median, and MR-Egger. Sensitivity analyses were performed using the Cochrane Q test, funnel plot, and Mr-Egger intercept test to ensure robustness. Eventually, replication analysis and meta-analysis across different databases were carried out.
RESULTS
Systemic lupus erythematosus (SLE) [IVW: OR = 1.079 (95% CI: 1.032-1.128) and P < 0.001], Sjogren syndrome [IVW: OR = 1.082 (95% CI: 1.012-1.157) and P = 0.022] and hypothyroidism [IVW: OR = 1.52 (95% CI: 1.13-2.04) and P = 0.005] may increase the risk of periodontal disease. In addition, periodontal disease may reduce the risk of SLE [IVW: OR = 0.8079 (95% CI: 0.6764-0.9650) and P = 0.019] and hyperthyroidism [IVW: OR = 5.59*10 (95% CI: 1.43*10-2.18*10) and P = 0.014]. Meta-analysis indicated a causal correlation between SLE and an increased risk of periodontal disease: [OR = 1.08 (95% CI: 1.03-1.13), P = 0.0009]. No significant evidence suggests bilateral causal relationships between other IMIDs and periodontal disease. No significant estimation of heterogeneity or pleiotropy is detected.
CONCLUSIONS
Our study has confirmed a genetic causal relationship between IMIDs and periodontal disease, thereby unveiling novel potential mechanisms underlying IMIDs and periodontal disease. This discovery is promising in fostering interdisciplinary collaboration between clinicians and stomatologists to facilitate appropriate and precise screening, prevention, and early treatment of IMIDs and periodontal disease.
Topics: Humans; Mendelian Randomization Analysis; Genome-Wide Association Study; Periodontal Diseases; Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Inflammation; Lupus Erythematosus, Systemic
PubMed: 38943064
DOI: 10.1186/s12865-024-00634-y -
Immunogenetics Jun 2024Autoimmune thyroid diseases (AITDs), mainly including Graves' disease (GD) and Hashimoto's thyroiditis (HT), are common autoimmune disorders characterized by abnormal...
Autoimmune thyroid diseases (AITDs), mainly including Graves' disease (GD) and Hashimoto's thyroiditis (HT), are common autoimmune disorders characterized by abnormal immune responses targeting the thyroid gland. We conducted a bidirectional two-sample MR analysis using the largest dataset of peripheral immune cell phenotypes from Sardinia, and the AITD dataset from the 10th round of the FinnGen and the UK Biobank project. Instrumental variables (IVs) were rigorously selected based on the three assumptions of MR and analyzed using the Wald ratio, inverse-variance weighted (IVW), MR-Egger, and weighted median methods. Additionally, sensitivity analyses were performed using Cochrane's Q, the Egger intercept, the MR-PRESSO, and the leave-one-out (LOO) method to ensure the robustness of the results. The Steiger test was utilized to identify and exclude potential reverse causation. The results showed that 3, 3, and 11 immune cell phenotypes were significantly associated with the risk of AITD. In GD, the proportion of naive CD4-CD8- (DN) T cells in T cells and the proportion of terminally differentiated CD4+T cells in T cells showed the strongest inducing and protective effects, respectively. In HT, lymphocyte count and CD45 on CD4+T cells showed the strongest inducing and protective effects, respectively. In autoimmune hypothyroidism, CD127 CD8+T cell count and terminally differentiated DN T cell count exhibited the strongest inducing and protective effects, respectively. Through MR analysis, our study provides direct genetic evidence of the impact of immune cell traits on AITD risk and lays the groundwork for potential therapeutic and diagnostic target discovery.
PubMed: 38940861
DOI: 10.1007/s00251-024-01345-9 -
Journal of Integrative Neuroscience May 2024The neuropathophysiological mechanisms of brain damage underlying hypothyroidism remain unclear. Fractional amplitude of low-frequency fluctuations (fALFF) has been...
BACKGROUND
The neuropathophysiological mechanisms of brain damage underlying hypothyroidism remain unclear. Fractional amplitude of low-frequency fluctuations (fALFF) has been established as a reliable indicator for investigation of abnormal spontaneous brain activity that occurs at specific frequencies in different types of mental disorder. However, the changes of fALFF in specific frequency bands in hypothyroidism have not yet been investigated.
METHODS
Fifty-three hypothyroid patients and 39 healthy controls (HCs) underwent thyroid-related hormone levels tests, neuropsychological assessment, and magnetic resonance imaging (MRI) scans. The fALFF in the standard band (0.01-0.1 Hz), slow-4 (0.027-0.073 Hz), and slow-5 bands (0.01-0.027 Hz) were analyzed. An analysis of Pearson correlation was conducted between fALFF, thyroid-related hormone levels, and neuropsychological scores in hypothyroid patients.
RESULTS
Compared to HCs, within the routine band, hypothyroidism group showed significantly decreased fALFF in left lingual gyrus, middle temporal gyrus (MTG), precentral gyrus, calcarine cortex, and right inferior occipital gyrus; within the slow-5 band, the hypothyroidism group exhibited decreased fALFF in left lingual gyrus, MTG, superior temporal gyrus, postcentral gyrus, and paracentral lobule, and increased fALFF in supplementary motor area (SMA) and right middle frontal gyrus; additionally, fALFF in the left lingual gyrus within the routine and slow-5 bands were negatively correlated with the level of thyroid stimulating hormone.
CONCLUSIONS
In this study, the slow-5 frequency band exhibits better sensitivity than the standard band in detecting fALFF values. A decrease of fALFF values in the lingual gyrus and MTG was observed in both the standard and slow-5 bands and might present potential neuroimaging biomarkers for hypothyroidism.
CLINICAL TRIAL REGISTRATION
No: ChiCTR2000028966. Registered 9 January, 2020, https://www.chictr.org.cn.
Topics: Humans; Male; Hypothyroidism; Adult; Female; Magnetic Resonance Imaging; Middle Aged; Brain Waves; Brain
PubMed: 38940082
DOI: 10.31083/j.jin2306111 -
Cureus May 2024Background Severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) infection has been linked to increased maternal and fetal morbidity and mortality, as...
Background Severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) infection has been linked to increased maternal and fetal morbidity and mortality, as evidenced by numerous studies. Given the potential exacerbation of autoimmune diseases during viral infections, maternal and fetal complications such as preterm birth, low birth weight, or preeclampsia, often observed in pregnancies involving autoimmune thyroiditis with hypothyroidism, may be further aggravated. This study seeks to ascertain whether the association between viral infection and hypothyroidism contributes to an increase in adverse pregnancy outcomes. Methods This study included a cohort of 145 pregnant women with SARS-CoV-2 infection, who delivered in the Department of Obstetrics and Gynecology of the University Emergency Hospital in Bucharest, Romania, between January 1, 2020, and December 31, 2022. The participants were divided into two groups depending on the presence of autoimmune thyroiditis with hypothyroidism. We examined the maternal and fetal demographic parameters, paraclinical laboratory parameters, and outcomes, aiming to identify disparities between the two groups. Results Among the 145 SARS-CoV-2-positive pregnant women, the prevalence of hypothyroidism was 8.96%, with 13 cases reported. In the hypothyroidism group, the mean age of coronavirus disease 2019 (COVID-19) patients was higher (34.07 ± 5.18 years vs. 29.25 ± 6.23 years), as was the number of cases of investigated pregnancies, 12 (92.31%) vs. 91 (68.94%). There was no statistically significant correlation observed between fetal weight at birth, one-minute Apgar score, neonatal intensive care unit (NICU) admission, or intrauterine growth restriction between the two groups. Nevertheless, a case of stillbirth was recorded in the hypothyroidism group. The presence of thyroid pathology did not exacerbate the progression of the viral infection, as evidenced by the absence of cases of preeclampsia, ICU admission, or SARS-CoV-2 pneumonia. Conversely, the presence of hypothyroidism in pregnant women with SARS-CoV-2 infection was associated with lower uric acid levels and a slight decrease in international normalised ratio (INR) values. Additionally, there was a significant negative association between uric acid levels and the one-minute Apgar score in the hypothyroidism group, while no such correlations were observed in the other group. Furthermore, there was a statistically significant correlation between intrauterine growth restriction and uric acid values, as well as between the one-minute Apgar score and INR parameters, in both groups. Conclusion The link between SARS-CoV-2 infection and hypothyroidism does not appear to increase the risk of preterm birth, intrauterine growth restriction, or low fetal weight at birth. However, it may be associated with a higher risk of stillbirth. The presence of hypothyroidism in pregnant women with COVID-19 correlates with lower maternal uric acid levels and a slight decrease in INR values. The one-minute Apgar score correlates with the level of uric acid in pregnant women with SARS-CoV-2 infection and hypothyroidism.
PubMed: 38939242
DOI: 10.7759/cureus.61206 -
JACC. Advances Oct 2023In recent decades, adults living with congenital heart disease (ACHD) have improved their survival, thus increasing their predisposition to the onset of cardiometabolic...
BACKGROUND
In recent decades, adults living with congenital heart disease (ACHD) have improved their survival, thus increasing their predisposition to the onset of cardiometabolic risk factors and chronic health conditions.
OBJECTIVES
The purpose of this study was to describe cardiometabolic risk profiles in the ACHD population and their relationship to congenital heart disease (CHD) lesion complexity.
METHODS
We performed a cross-sectional study from ACHD in a third-tier referral center in Mexico City. The association between cardiometabolic risk factors and CHD complexity was estimated using logistic regression models.
RESULTS
Our study cohort included 1,171 ACHD patients (median age: 31 [IQR: 23.2-42.7] years, male 63.6%). Cardiac diagnosis was classified as mild (44.9%), moderate (37.8%), and severe (17.2%) CHD complexity. Low high-density lipoprotein cholesterol (55%) was the most common cardiometabolic risk factor; followed by insulin resistance (54.5%) and prediabetes (52.4%). Patients with mild and moderate CHD had a higher prevalence of obesity and metabolic syndrome, while patients with severe CHD had a higher prevalence of hyperuricemia and subclinical hypothyroidism. In the logistic regression analysis, the severity of CHD was associated with higher odds of hyperuricemia (moderate CHD, OR: 1.87; 95% CI: 1.20-2.93; = 0.010; severe CHD, OR: 2.75; 95% CI: 1.64-4.62; < 0.001) and lower risks of metabolic syndrome (OR: 0.61; 95% CI: 0.41-0.91; = 0.010), prediabetes (OR: 0.58; 95% CI: 0.42-0.81; < 0.001), and arterial hypertension (OR: 0.49; 95% CI: 0.33-0.74; < 0.001) compared with mild CHD complexity.
CONCLUSIONS
We observed high rates of cardiometabolic risk factors in Mexican ACHD patients and these risk profiles varied by CHD lesion complexity. These results highlight the need for ongoing metabolic health surveillance in the ACHD population.
PubMed: 38938341
DOI: 10.1016/j.jacadv.2023.100596