scholarly journals Down Syndrome and Thyroid Gland

2006 ◽  
Vol 6 (3) ◽  
pp. 38-42 ◽  
Author(s):  
Mensuda Hasanhodžić ◽  
Husref Tahirović ◽  
Ljerka Lukinac
Keyword(s):  
Down Syndrome ◽  
Thyroid Function ◽  
Trisomy 21 ◽  
Thyroid Dysfunction ◽  
Clinical Symptoms ◽  
Screening Program ◽  
Mental Deficiency ◽  
Control Group ◽  
Adequate Treatment ◽  
Mental Fitness

Down Syndrome (DS) or trisomy 21 (T21) is the most frequent and the best known malformation syndrome associated with mental deficiency that appears in human,. Average incidence of this syndrome is about 1:700 newborns. Numerous researchers noted thyroid disorders in people with Down Syndrome but, clinical symptoms of thyroid dysfunction are difficult to separate from DS phenotype. The aim of this study was to examine the thyroid function in the patients with DS. Our results confirmed higher frequency of thyroid dysfunction in DS patients. Higher values of TSH were found in 60,34% of the examined DS patients, which is significantly higher value comparing with the control group (p<0,01). Compensated hypothyroidism was established in 27,92% of the examined DS patients, and most of those (63,23%) were younger than 6 years. The conclusions emphasize the necessity of implementation of thyroid function screening program in persons with DS, and the need for adequate treatment of its dysfunction. Thus, the symptoms of the disease would be alleviated and better physical and mental fitness ensured.

scholarly journals Thyroid Function in Children with Down Syndrome in the Polish Population: A Case–Control Study

2020 ◽  
Vol 23 (6) ◽  
pp. 386-390
Author(s):  
Beata Zelazowska-Rutkowska ◽  
Anna Jakubiuk-Tomaszuk ◽  
Bogdan Cylwik
Keyword(s):  
Down Syndrome ◽  
Thyroid Function ◽  
Subclinical Hypothyroidism ◽  
Thyroid Disease ◽  
Thyroid Dysfunction ◽  
Clinical Symptoms ◽  
Control Group ◽  
Healthy Population ◽  
Polish Population ◽  
Children With Down Syndrome

Background: Patients with subclinical thyroid disease have few or no clinical symptoms of thyroid dysfunction and thus, laboratory diagnosis is needed. In this context, the objective of the current study was to analyze the prevalence rate and pattern of thyroid function in children with Down syndrome in the Polish population. Methods: A total of 30 children, aged 6–12 years, with cytogenetically confirmed Down syndrome were studied. The control group included 27 children. Results: Of the 30 patients with Down syndrome, 14 (46.7%) had abnormal thyroid profiles. Mean thyroid-stimulating hormone (TSH) and fT4 concentrations in children with Down syndrome were found to be significantly increased compared with the controls (4.30 ± 1.9 µIU/mL, 95% CI: 3.55–5.04 µIU/mL vs. 3.10 ± 1.47 µIU/mL, 95% CI: 2.52–3.68 µIU/mL, P = 0.013, 95% CI: 0.26–2.14, and 1.33 ± 0.23 ng/dL, 95% CI: 1.25–1.42 vs. 1.19 ± 0.14 ng/dL, 95% CI: 1.13–1.25, P = 0.008, 95% CI: 0.04–0.24, respectively). In Down syndrome, subclinical hypothyroidism was recognized in 10 children (33.3%) (high TSH and normal fT4 and fT3 levels). Two children (6.67%) had evident hypothyroidism (high TSH and low fT4). In the control group, subclinical hypothyroidism was diagnosed in four (14.8%) children. Conclusion: Children with Down syndrome may have increased secretion of TSH, even when thyroid hormone and autoantibodies are normal, suggesting that an isolated increase in TSH does not predispose the patient to the development of thyroid disease. We also recommend that all patients with Down syndrome should be screened for thyroid dysgenesis, since they have thyroid dysfunction more frequently as compared to the general healthy population.

scholarly journals Thyroid Function in 35 Patients with Gitelman Syndrome

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Hong Zhou ◽  
Yan Ren ◽  
Chunyan Lu ◽  
Yuanmei Li ◽  
Haoming Tian ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Thyroid Function ◽  
Primary Aldosteronism ◽  
Thyroid Dysfunction ◽  
Patient Characteristics ◽  
Gitelman Syndrome ◽  
Control Group ◽  
Thyroid Peroxidase ◽  
Potential Contribution ◽  
Significant Difference

Objective. In this study, we aimed to analyze thyroid function and related risk factors for thyroid dysfunction in 35 patients with Gitelman syndrome (GS). Methods. This study included 35 patients with GS who were referred to West China Hospital of Sichuan University from Aug 2013 to Jan 2018. General patient characteristics were collected, and thyroid function was assessed. To evaluate the potential contribution of hypokalemia to thyroid dysfunction, 636 patients who were clinically diagnosed with primary aldosteronism (PA) during the same period were included as the control group; these patients were divided into a hypokalemia group ( N = 528 ) and a normokalemia group ( N = 108 ). Logistic regression was used to screen for significant determinants of thyroid dysfunction in the GS patients. Results. Patients with GS had a significantly different prevalence of subclinical hypothyroidism, hypothyroidism, and hyperthyroidism than patients with hypokalemic PA and normokalemic PA (28.6%, 2.9%, and 11.4% vs. 15.5%, 6.1%, and 0.7% vs. 8.3%, 4.6%, and 2.8%, P < 0.001 ). No significant difference was observed in the distribution of thyroid function between the hypokalemic PA group and the normokalemic PA group ( P > 0.05 ). No significant differences were seen in the positive rates of thyrotropin receptor antibody (TRAb), thyroglobulin antibody (TGAb), and thyroid peroxidase antibody (TPOAb) among the three groups ( P > 0.05 ). In the logistic regression, only sex (OR, 7.4; 95% CI, 1.555-35.479; P = 0.012 ) was significantly correlated with thyroid dysfunction in GS patients. Conclusion. GS is complicated with a greater rate of thyroid dysfunction than primary aldosteronism. The risk of thyroid dysfunction in female patients with GS is higher than that in male patients.

scholarly journals Role of thyroid dysfunction and thyroid autoimmunity in infertile women: study done in 450 bedded maternity hospital of Delhi, India

2017 ◽  
Vol 6 (6) ◽  
pp. 2597
Author(s):  
Jyotsana Gupta ◽  
Charu Lata Bansal ◽  
Sangita Nangia Ajmani ◽  
Ajay Kumar Ajmani
Keyword(s):  
Thyroid Function ◽  
Thyroid Dysfunction ◽  
Thyroid Autoimmunity ◽  
Control Group ◽  
Study Group ◽  
Thyroid Antibodies ◽  
Free T4 ◽  
Infertile Women ◽  
Antithyroid Antibodies ◽  
The Mean

Background: the aim was to study the prevalence of abnormal thyroid function and thyroid autoimmunity in infertile women and in general population (control group) and to correlate the thyroid dysfunction with presence of anti-thyroid antibodies. It was a case control study. The study was carried out at Department of obstetrics and gynaecology, Kasturba Hospital, Delhi. Population of the study was fifty infertile women in whom other causes of infertility are excluded and fifty fertile women attending out- patient department with other complaints.Methods: All the women enrolled in the study were non pregnant, clinically euthyroid (with no signs and symptoms of thyroid disorders and no documented abnormal thyroid function test) and no known autoimmune disorder. Detailed history and a thorough general physical examination, including thyroid examination was done. Haemogram, blood group, fasting and post prandial blood sugar, VDRL, transabdominal ultrasound, TSH, free T3, free T4, and antithyroid per-oxidase antibody assay was done using the ELISA technique.Results: The mean age of the study group was found 28.38±2.45 years, 22% had abnormal thyroid function, 20% had antithyroid antibodies positive and the mean TSH of the study group was 4.61±1.72µIU/ml. The mean age of the control group was found to be 29.10±2.01 years, 12% had abnormal thyroid function, 10% had antithyroid antibodies positive and the mean TSH of the control group was 3.89±1.56µIU/ml.Conclusions: Thyroid dysfunction and anti-thyroid antibodies were more prevalent in patients with infertility. A statistically significant correlation was established between thyroid autoimmunity and thyroid dysfunction in infertile women in the study.

scholarly journals Comorbidities in children with Down syndrome: experience in a tertiary care hospital of Bangladesh

2021 ◽  
Vol 11 (3) ◽  
pp. 191-196
Author(s):  
Fahmida Zabeen ◽  
Fauzia Mohsin ◽  
Eva Jesmin ◽  
Sharmin Mahbuba ◽  
M Quamrul Hassan
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Thyroid Dysfunction ◽  
Septal Defect ◽  
Tertiary Care ◽  
Care Hospital ◽  
Children With Down Syndrome

Background: Down syndrome or trisomy 21 is one of the most common chromosomal disorders with moderate intellectual disability. In addition to mental retardation, this syndrome is associated with different congenital anomalies and characteristic dysmorphic features. Affected individuals are more susceptible to congenital heart disease and digestive anomalies, pulmonary complications, immune and endocrine system disorders. While several international studies have shown association of co-morbidities with trisomy 21, there is insufficient data available in Bangladesh.The present study aimed to evaluate the associated co-morbidities in children with Down syndrome. Methods: A cross-sectional study was conducted among pediatric cases with Down syndrome who attended the endocrine outpatient department (OPD) of BIRDEM General Hospital from June 2006 to December 2016. The cases were diagnosed either by Karyotyping or by characteristic phenotypes.The clinical and laboratory data of the patients were collected from outpatient history records for analysis. Results: There were total 42 children with Down syndrome, with mean age 4.2 years at assessment and female predominance (1.47:1). Thyroid dysfunction was the most common (69%) followed by congenital heart disease (57%). Among the thyroid disorders, acquired hypothyroidism was found in 55% cases, congenital hypothyroidism in 41% cases and only one had hyperthyroidism. Isolated patent ductus arteriosus (PDA) and atrial septal defect (ASD) comprised the commonest single congenital heart disease found in 53% and combined atrioventricular septal defect was the commonest among complex congenital cardiac defect observed in our study. Both thyroid dysfunction and congenital heart disease were found more in female children with Down syndrome than their male counterpart and it was found statistically significant. Fifty percent of our Down syndrome cases were referred from other healthcare centers to address developmental delay. Conclusion: Hypothyroidism and congenital heart disease are frequently associated in Down syndrome children in Bangladesh. This calls for developing awareness among health professionals to diagnose comorbidities at an early stage and to form recommendations for long term follow up. BIRDEM Med J 2021; 11(3): 191-196

scholarly journals Study of thyroid dysfunction and dyslipidemia in chronic kidney diseases

2017 ◽  
Vol 6 (1) ◽  
pp. 110
Author(s):  
S. K. Tripathy ◽  
N. Dhal ◽  
M. Kanungo ◽  
S. Das ◽  
S. K. Mishra ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Lipid Profile ◽  
Thyroid Function ◽  
Conservative Management ◽  
Thyroid Dysfunction ◽  
Density Lipoprotein ◽  
Lipoprotein Cholesterol ◽  
Control Group ◽  
Group A ◽  
Group B

Background: Though there are many studies on thyroid dysfunction and dyslipidemia in Chronic Kidney Disease (CKD), no study is conclusive. Aim of this study was to correlate abnormalities in thyroid function and lipid profile with the severity of renal failure and also to observe the difference of these abnormalities between patients on conservative management verses hemodialysis.Methods: Hundred consecutive CKD cases admitted to Medicine Department were taken up for the study. They were divided into two groups as Group-A [on conservative management] and Group-B [on regular Hemodialysis (HD)]. Hundred healthy persons were taken as control in Group-C. After evaluation of thyroid function and lipid profile statistical analysis was done by students t-test, chi-square and regression analysis.Results: Hundred CKD cases with 74% male (n=74) and 26% female (n=26) in a M: F ratio of 2.9:1 were found to be in different stages CKD (0, 2, 20, 28 and 50 in stage-1 to stage-5 respectively). In 50 cases of stage-5 CKD, 30 were on HD and 20 on conservative management. Diabetes Mellitus (DM) (40%) was the commonest etiology of CKD followed by Hypertension (HTN), obstructive uropathy, chronic glomerulonephritis (CGN) and polycystic kidney disease (PKD). Thyromegaly was not found in a single case. In all CKD cases (Group-A+B) TT3 (TT3) was significantly low (P =0.0011) when compared with control (Group-C) and no difference was found between Group-A and Group-B. Fall in TT3 worsened with increasing severity of CKD. Lipid profile study revealed Decreased High-Density Lipoprotein Cholesterol (HDLc) and increased Triglyceride (TG), Total Cholesterol (TC), Low Density Lipoprotein Cholesterol (LDLc), TC/HDLc and LDLc/HDLc in Group-A than Group-B but only TG and TC increase was statistically significant. The levels of TG and TC and TC/HDLc increased as the stage of CKD progressed and was statistically significant (P= 0.035).Conclusions: There occurs a state of biochemical hypothyroidism without overt clinical hypothyroid state in CKD, the extent of which correlates with the severity of CKD. Increased cardiovascular complications occur due to accelerated atherosclerosis in CKD. This study confirmed that atherogenic lipid profile and thyroid dysfunction worsen with the progression of disease. Difference between patients on conservative management and HD was not found.

scholarly journals The clinical manifestations of keratoconus in the patients presenting with Down syndrome

2016 ◽  
Vol 11 (3) ◽  
pp. 118-120
Author(s):  
M. M Bikbov ◽  
V. K Surkova ◽  
E. L Usubov ◽  
Karine Khachaturovna Oganisyan
Keyword(s):  
Down Syndrome ◽  
General Population ◽  
Clinical Symptoms ◽  
Corneal Thickness ◽  
Clinical Manifestations ◽  
Control Group ◽  
Study Group ◽  
Healthy Children ◽  
Ophthalmological Examination ◽  
Biometric Parameters

Down syndrome is one the most widespread forms of genomic pathology accompanied by mental retardation and impairment of cognitive functions. One of the commonest eye diseases in the patients with Down syndrome is corneal ectasia that occurs 10 times more frequently in the children with Down syndrome than in the general population. Objective. Of the present study was the comparative analysis of the biometric parameters of the cornea and the clinical manifestations of keratoconus in the patients presenting with Down syndrome. Materials and methods. We undertook the comprehensive analysis of the biometric parameters of the cornea in 54 patients (108 eyes) with Down syndrome who made up the main study group. The control group was comprised of 62 practically healthy children (124 eyes). Results. The patients presenting with Down syndrome were found to have a higher refractive power of the cornea, a more pronounced elevation of the posterior corneal surface and its irregular patterns, a smaller corneal thickness, and lower degree of corneal hysteresis in comparison with the control children. The verified diagnosis of keratoconus was established in 11 patients of the main group. Conclusion. The present study has revealed keratoconus in 11 (20.4%) children presenting with Down syndrome which suggests a higher prevalence of this pathology in our study group in comparison with its mean prevalence reported thus far for the general population. The early subclinical forms of ceratoconus are known to more frequently occur in the children aged from 12 to 18 years, with the incidence of its later stages being especially high in the group of the patients between 19 and 38 years of age. This discrepancy is supposed to be attributable to the progression of the clinical symptoms of the eye disease with age and its late diagnostics. The deviation of corneal biometric characteristics from the respective normal values documented in 79.6% of the patients included in the present study should be regarded as reflecting the objective situation. It is concluded that the patients presenting with Down syndrome should be referred to the group at enhanced risk of development of keratoconus and undergo the regular ophthalmological examination.

scholarly journals Polymorphisms of the MTHFR Gene in Mothers of Children with Trisomy 21 (Down Syndrome) in a Polish Population

2019 ◽  
Author(s):  
Paulina Czechowicz ◽  
Malgorzata Malodobra-Mazur ◽  
Karolina Cukierska ◽  
Arleta Lebioda ◽  
Anna Jonkisz ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Venous Blood ◽  
Mthfr Gene ◽  
Chromosome 21 ◽  
Test Material ◽  
Control Group ◽  
Polish Population ◽  
Nucleotide Polymorphisms ◽  
Cellular Mechanisms

Abstract Background: Down Syndrome (DS) is the most frequent cause of intellectual disability. In 95% of cases, it is caused by simple trisomy of chromosome 21 resulting from nondisjunction of chromosomes in meiotic division. Currently, the molecular and cellular mechanisms responsible for the phenomenon of nondisjunction are unknown. In this paper, we evaluated the incidence of five single-nucleotide polymorphisms (SNPs) of the MTHFR gene in a population of Polish mothers who had given birth to children with trisomy 21 in comparison with a control group of women with healthy offspring. Methods: The test material comprised venous blood collected from mothers who had given birth to a child with Down syndrome (study group, n = 130) as well as from women who had given birth to children without trisomy 21 (control group, n = 88). DNA was isolated using a kit manufactured by Qiagen. Amplification was carried out using a Qiagen Multiplex PCR Kit (Qiagen); genotyping was performed using SNaPshot Genotyping MasterMix (Applied Biosystems). Results: No statistically significant differences were observed in the frequency of genotypes between the examined groups in terms of the polymorphisms of the MTHFR gene. Conclusions: In the studied Polish population, no relationship was found between the occurrence of particular genotypes of the MTHFR gene, i.e. 677CT, 1298AC, rs3737964, rs4846048, and rs1994798, in women and the birth of children with trisomy 21. The results contradict the validity of research on polymorphisms of the MTHFR gene as potential predisposing factors for the occurrence of trisomy 21 in children.

scholarly journals Morphological and Functional Assessment of Thyroid in Individuals with Down Syndrome

2021 ◽  
Author(s):  
Celia Neder Kalil Mangabeira ◽  
Rafael Kalil Mangabeira ◽  
Luis Jesuino de Oliveira Andrade
Keyword(s):  
Down Syndrome ◽  
Thyroid Function ◽  
Autoimmune Thyroiditis ◽  
Thyroid Dysfunction ◽  
Cross Sectional Study ◽  
Free T4 ◽  
Cross Sectional ◽  
Key Words Down Syndrome ◽  
Normal Thyroid Function ◽  
Increased Risk

Individuals with Down syndrome (DS) present increased risk for thyroid dysfunction, especially hypothyroidism, due in increased expression of the DYRK1A gene. Objective: The aim of this study was to make a morphological functional thyroid assessment in individuals with DS. Materials and Methods: This is a descriptive cross-sectional study, consisting of 29 individuals with DS, with a mean age of 12,3 (0.66 / 36.00) years, 16 women (55.2%) and 13 men (44.8%), with a morphological/functional thyroid assessment being made comprising hormonal dose (Free T4, TSH), antithyroid antibody (TPOAb and TgAb) and ultrasonography of the thyroid. Results: Twenty-three (79.3%) individuals presented normal thyroid function while 6 (20.7%) presented with thyroid dysfunction, 4 with hypothyroidism and 2 with hyperthyroidism. Autoimmune thyroiditis and goiter were present in 27.6% of the individuals. Conclusion: Thyroid function should be assessed periodically in individuals with DS, in view of the high prevalence of thyroid dysfunction, especially autoimmune thyroiditis with consequent hypothyroidism. Key Words: Down Syndrome, thyroid, ultrasonography, thyroid dysfunction.

Thyroid Dysfunction and Nodular Goiter in Hemodialysis and Peritoneal Dialysis Patients

1998 ◽  
Vol 18 (5) ◽  
pp. 516-521 ◽  
Author(s):  
Chih Ching Lin ◽  
Tzen Wen Chen ◽  
Yee Yung Ng ◽  
Yi Hong Chou ◽  
Wu Chang Yang
Keyword(s):  
Peritoneal Dialysis ◽  
Thyroid Function ◽  
Thyroid Dysfunction ◽  
Nodular Goiter ◽  
Cross Sectional Study ◽  
Control Group ◽  
Free T4 ◽  
Cross Sectional ◽  
Dialysis Unit ◽  
Uremic Patients

Objective To investigate the prevalence of nodular goiter and thyroid dysfunction in uremic patients undergoing hemodialysis (HD) and peritoneal dialysis. Design Cross-sectional study. Setting Single dialysis unit and outpatient clinic. Patients The study included 221 patients [143 HD and 78 continuous ambulatory peritoneal dialysis (CAPD) patients] along with 135 consecutively selected outpatients as controls. Main Outcome Measures Ultrasonography was used to detect patients’ thyroid function and nodular goiter. Results Nodular goiter was detected in 54.8% of the uremic patients and in 21.5% of the controls. Uremic patients had higher prevalence of thyroid dysfunction, which included reduced serum concentration of total T3, total T4, and free T4, and increased serum level of TSH. Hypothyroidism was also observed more frequently in uremic patients than in the control group (5.4% vs 0.7%, p < 0.05). Nodular goiter was more frequently found in females than in males (63.5% vs 48%, p < 0.05). Moreover, the prevalence of nodular goiter increased with age (p < 0.02) in uremic patients. Hemodialysis patients had a higher frequency of reduced total T3 level (46.9% vs 29.5%, p < 0.02). However, CAPD patients had lower T4 levels (6.23 ± 1.82μg/dL vs 7.15± 1.99μg/dL, p < 0.05). Conclusion Because of the high incidence of hypothyroidism and nodular goiter in uremic patients, screening of thyroid function and goiter detection with ultrasound should be considered in evaluation of end-stage renal disease patients.

scholarly journals Thyroid Dysfunction and Autoantibodies Association with Hypertensive Disorders during Pregnancy

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Azin Alavi ◽  
Khadijeh Adabi ◽  
Sepideh Nekuie ◽  
Elham Kazemi Jahromi ◽  
Mehrdad Solati ◽  
...  
Keyword(s):  
Thyroid Function ◽  
Thyroid Dysfunction ◽  
Gestational Hypertension ◽  
Previous History ◽  
Reproductive Age ◽  
Control Group ◽  
Thyroid Function Tests ◽  
Hypertensive Patients ◽  
Hypertensive Disorders ◽  
Low T3

Background. Thyroid dysfunction and autoimmunity are relatively common in reproductive age and have been associated with adverse health outcomes for both mother and child, including hypertensive disorders during pregnancy.Objective. To survey the relation between thyroid dysfunction and autoimmunity and incidence and severity of pregnancy-induced hypertensive disorders.Method. In this case control study 48 hypertensive patients in 4 subgroups (gestational hypertension, mild preeclampsia, severe preeclampsia, eclampsia) and 50 normotensive ones were studied. The samples were nulliparous and matched based on age and gestational age and none of them had previous history of hypertensive or thyroid disorders and other underlying systemic diseases or took medication that might affect thyroid function. Their venous blood samples were collected using electrochemiluminescence and ELISA method and thyroid hormones and TSH and autoantibodies were measured.Results. Hypertensive patients had significant lower T3 concentration compared with normotensive ones with mean T3 values152.5±48.93 ng/dL,175.36±58.07 ng/dL respectively. Anti-TPO concentration is higher in control group6.07±9.02 IU/mL compared with2.27±2.94 IU/mL in cases.Conclusion. The severity of preeclampsia and eclampsia was not associated with thyroid function tests. The only significant value was low T3 level among pregnancy, induced hypertensive patients.

Sign in / Sign up

Export Citation Format

Share Document