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The Medical Letter on Drugs and... Feb 2023
Topics: Humans; Hypothyroidism; Hormone Replacement Therapy; Thyroxine
PubMed: 36757834
DOI: 10.58347/tml.2023.1670a -
Deutsches Arzteblatt International Apr 2022Neonatal screening in Germany currently comprises 19 congenital diseases, 13 of which are metabolic diseases. Approximately one in 1300 newborns suffers from one of... (Review)
Review
BACKGROUND
Neonatal screening in Germany currently comprises 19 congenital diseases, 13 of which are metabolic diseases. Approximately one in 1300 newborns suffers from one of these target diseases. Early diagnosis and treatment enable the affected children to undergo better development and even, in many cases, to have a normal life.
METHODS
This review is based on pertinent publications retrieved by a selective search in the PubMed and Embase databases.
RESULTS
Positive screening findings are confirmed in approximately one out of five newborns. The prompt evaluation of suspected diagnoses is essential, as treatment for some of these diseases must be initiated immediately after birth to prevent longterm sequelae. The most commonly identified diseases are primary hypothyroidism (1:3338), phenylketonuria/hyperphenylalaninemia (1 : 5262), cystic fibrosis (1 : 5400), and medium-chain acyl-CoA dehydrogenase deficiency (1 : 10 086). Patient numbers are rising as new variants of the target diseases are being identified, and treatments must be adapted to their heterogeneous manifestations. Precise diagnosis and the planning of treatment, which is generally lifelong, are best carried out in a specialized center.
CONCLUSION
Improved diagnosis and treatment now prolong the lives of many patients with congenital diseases. The provision of appropriate long-term treatment extending into adulthood will be a central structural task for screening medicine in the future.
Topics: Acyl-CoA Dehydrogenase; Cystic Fibrosis; Early Diagnosis; Germany; Humans; Hypothyroidism; Infant, Newborn; Lipid Metabolism, Inborn Errors; Neonatal Screening; Phenylketonurias
PubMed: 35140012
DOI: 10.3238/arztebl.m2022.0075 -
Endocrinologia, Diabetes Y Nutricion Dec 2022To document the opinion of primary care physicians on hypothyroidism and explore their educational and research needs.
AIM
To document the opinion of primary care physicians on hypothyroidism and explore their educational and research needs.
METHODS
A web-based survey was released through Healthcare Management offices in Madrid to be answered anonymously by the doctors at the health centers.
RESULTS
Five hundred and forty-six out of 3897 (14%) physicians completed the survey. More than 90% of respondents agreed that hypothyroidism is a common and easily managed health problem and that its poor control increases healthcare costs. This percentage was higher in older doctors and those with longer professional experience. 88.1% of respondents showed interest in educational activities (86.6% in receiving and 20.9% in providing education). The preference for clinical sessions in the health center (71.5%) exceeded that of sessions in the hospital (20.2%), while the preference for online courses (67.8%) exceeded that of face-to-face courses (50.9%). 53.5% of interviewees expressed interest in research on hypothyroidism. Women and professionals with a higher number of hypothyroid patients under their care were more likely to be interested in educational and research activities.
CONCLUSION
Primary care physicians in the Community of Madrid are aware of the health problem posed by thyroid hormone deficiency and are clearly in favour of participating in educational and research activities in this area of knowledge.
Topics: Humans; Female; Aged; Physicians, Primary Care; Hypothyroidism; Surveys and Questionnaires; Educational Status
PubMed: 36470819
DOI: 10.1016/j.endien.2022.11.030 -
The American Journal of Medicine Jan 2021
Topics: Aged; Humans; Hypothyroidism; Thyroxine
PubMed: 33342475
DOI: 10.1016/j.amjmed.2020.09.008 -
Frontiers in Immunology 2023Observational studies have demonstrated an association between primary sclerosing cholangitis (PSC) and thyroid dysfunction (TD). However, the causal relationship...
BACKGROUND
Observational studies have demonstrated an association between primary sclerosing cholangitis (PSC) and thyroid dysfunction (TD). However, the causal relationship between PSC and TD remains uncertain. The purpose of this study is to investigate the causal associations and specific direction between these two conditions. Gaining insight into the potential causal relationship between PSC and TD is valuable for elucidating the pathogenesis of PSC and for devising innovative approaches for the prevention and treatment of PSC and its associated complications.
METHODS
We conducted a bidirectional two-sample Mendelian randomization (MR) analysis to investigate the causal association between PSC and TD, such as autoimmune thyroid disease (AITD), thyroid cancer (TC), thyroid stimulating hormone (TSH), thyrotropin-releasing hormone (TRH), among others. PSC was the exposure variable, while TD was the outcome variable. To identify suitable instrumental variables (IVs), we utilized genome-wide association study (GWAS) datasets to select potential candidate single-nucleotide polymorphisms (SNPs). The primary statistical approach employed was the inverse-variance weighted (IVW) method, which was complemented by a series of sensitivity analyses to assess the robustness of the results by estimating heterogeneity and pleiotropy.
RESULTS
We found that the causal associations between genetically predicted PSC and Graves' disease (GD), hyperthyroidism (IVW OR=1.230, 95%CI: 1.089-1.389, P=0.001; IVW OR=1.001, 95%CI: 1.000-1.002, P=0.000) were statistically significant. The reverse MR analysis indicated that genetic susceptibility to hyperthyroidism (P=0.000) and hypothyroidism (p=0.028) might be the risk of PSC. There was no statistically significant causal association observed between PSC and other TD (IVW P>0.05), with the exception of GD, hyperthyroidism, and hypothyroidism as determined through bidirectional two-sample analysis. To ensure the reliability of our findings, additional sensitivity analyses were conducted, including the leave-one-out (LOO) test, heterogeneity test, and pleiotropic test.
CONCLUSION
In this study, we conducted an investigation into the causal association between PSC and TD. Our findings indicate that PSC significantly elevates the susceptibility to GD and hyperthyroidism from a statistical perspective. These results shed light on the etiology of PSC and have implications for the management of patients with PSC.
Topics: Humans; Cholangitis, Sclerosing; Genome-Wide Association Study; Mendelian Randomization Analysis; Reproducibility of Results; Hyperthyroidism; Hypothyroidism; Graves Disease
PubMed: 37928559
DOI: 10.3389/fimmu.2023.1276459 -
Endocrine Jan 2021The incidence of primary congenital hypothyroidism (CH) has grown progressively and literature data indicate an association between CH and congenital malformations. The...
PURPOSE
The incidence of primary congenital hypothyroidism (CH) has grown progressively and literature data indicate an association between CH and congenital malformations. The purpose of this study is to establish the current incidence of CH in the Italian Region of Piedmont and verify the relationship between CH diagnostic categories and associated malformations.
METHODS
The biochemical and clinical data of 105 newborns with CH diagnosed in the period January 2014 to December 2019 were analyzed.
RESULTS
The incidence of CH in the Italian Piedmont region in the 2014-2019 period increased to 1:1090. Thyroid dysgenesis was responsible for 47.6% (50/105) of all cases, with agenesis in 14.3% (15/105), while ectopia and hypoplasia in 23.8% (25/105) and 9.5% (10/105) of the cases, respectively; dyshormonogenesis defects were found in 52.4% (55/105) of cases. Congenital extra-thyroid anomalies were identified in 33/105 (31.4%) of newborns with CH and mainly involve the cardiac system (17/85, 16.1%), urogenital tract (7/85, 6.7%), gastrointestinal tract (5/105, 4.8%), and the musculoskeletal system (5/105, 4.8%). The highest rate of malformations was observed in patients with thyroid agenesis and dyshormonogenesis, respectively, in 53.5% and 36.4% of cases, while in the presence of thyroid ectopia and hypoplasia, the rate was 12% and 20%, respectively, (p = 0.03).
CONCLUSION
In the Italian region of Piedmont, the incidence of primary CH has been increased over time, with a variation in the percentage of the different forms of CH. Congenital malformations, especially affecting the cardiovascular, urogenital, gastrointestinal, and musculoskeletal systems, seem to be mainly associated with thyroid agenesis or defects in hormonogenesis.
Topics: Congenital Hypothyroidism; Humans; Incidence; Infant, Newborn; Italy; Neonatal Screening; Thyroid Dysgenesis
PubMed: 32507964
DOI: 10.1007/s12020-020-02370-w -
The Science of the Total Environment Apr 2023While fluoride can have thyroid-disrupting effects, associations between low-level fluoride exposure and thyroid conditions remain unclear, especially during pregnancy...
BACKGROUND
While fluoride can have thyroid-disrupting effects, associations between low-level fluoride exposure and thyroid conditions remain unclear, especially during pregnancy when insufficient thyroid hormones can adversely impact offspring development.
OBJECTIVES
We evaluated associations between fluoride exposure and hypothyroidism in a Canadian pregnancy cohort.
METHODS
We measured fluoride concentrations in drinking water and three dilution-corrected urine samples and estimated fluoride intake based on self-reported beverage consumption. We classified women enrolled in the Maternal-Infant Research on Environmental Chemicals Study as euthyroid (n = 1301), subclinical hypothyroid (n = 100) or primary hypothyroid (n = 107) based on their thyroid hormone levels in trimester one. We used multinomial logistic regression to estimate the association between fluoride exposure and classification of either subclinical or primary hypothyroidism and considered maternal thyroid peroxidase antibody (TPOAb) status, a marker of autoimmune hypothyroidism, as an effect modifier. In a subsample of 466 mother-child pairs, we used linear regression to explore the association between maternal hypothyroidism and child Full-Scale IQ (FSIQ) at ages 3-to-4 years and tested for effect modification by child sex.
RESULTS
A 0.5 mg/L increase in drinking water fluoride concentration was associated with a 1.65 (95 % confidence interval [CI]: 1.04, 2.60) increased odds of primary hypothyroidism. In contrast, we did not find a significant association between urinary fluoride (adjusted odds ratio [aOR]: 1.00; 95%CI: 0.73, 1.39) or fluoride intake (aOR: 1.25; 95%CI: 0.99, 1.57) and hypothyroidism. Among women with normal TPOAb levels, the risk of primary hypothyroidism increased with both increasing water fluoride and fluoride intake (aOR water fluoride concentration: 2.85; 95%CI: 1.25, 6.50; aOR fluoride intake: 1.75; 95%CI: 1.27, 2.41). Children born to women with primary hypothyroidism had lower FSIQ scores compared to children of euthyroid women, especially among boys (B coefficient: -8.42; 95 % CI: -15.33, -1.50).
DISCUSSION
Fluoride in drinking water was associated with increased risk of hypothyroidism in pregnant women. Thyroid disruption may contribute to developmental neurotoxicity of fluoride.
Topics: Male; Female; Humans; Pregnancy; Child, Preschool; Fluorides; Drinking Water; Canada; Hypothyroidism; Thyroid Hormones; Pregnancy Complications; Thyrotropin
PubMed: 36764861
DOI: 10.1016/j.scitotenv.2022.161149 -
Child's Nervous System : ChNS :... Mar 2021Pituitary hyperplasia following primary hypothyroidism in pediatric age group population is considered rare with reports of unnecessary neurosurgical intervention for... (Review)
Review
INTRODUCTION
Pituitary hyperplasia following primary hypothyroidism in pediatric age group population is considered rare with reports of unnecessary neurosurgical intervention for this medically treatable condition. Given the paucity of information on this topic, it is timely to provide clinicians with a comprehensive summary of available research.
METHODS
A search of published studies in Pubmed, PsychInfo and Cochrane Database with the terms "pituitary hyperplasia" or "pituitary hypertrophy" and "hypothyroidism" was performed and the results filtered for English language, pediatric (0-18 years) population and CT or MRI confirmed findings. 55 studies met the inclusion criteria. Data for a total of 110 patients with pituitary hyperplasia following primary hypothyroidism were extracted. The study population included 29 males and 81 females (M: F= 0.35:1). Patient age varied from 3 weeks to 18 years with a mean age of 10.22 years.
RESULTS
The most common clinical presentations included growth retardation, constipation and features of myxedema which were present in 78, 36 and 18 percent of children included in our review. Neuroimaging showed the mean (SD) pituitary height being 13.48 mm (4.72 mm). All of the patients achieved resolution of their pituitary mass and clinical as well as biochemical abnormalities 1 to 26 months after initiation of thyroid hormone replacement therapy, with an average time interval of 7.22 months. Our review has tried to delve in the pathophysiology as well as clinical, biochemical and radiological aspects of pediatric pituitary hyperplasia secondary to primary hypothyroidism and provide recommendations for treatment and follow-up. This may help anyone concerned gain a substantial knowledge on this topic.
Topics: Child; Female; Hormone Replacement Therapy; Humans; Hyperplasia; Hypothyroidism; Male; Pituitary Diseases; Pituitary Gland
PubMed: 33404718
DOI: 10.1007/s00381-020-05014-6 -
Thyroid : Official Journal of the... May 2024International guidelines recommend targeted screening to identify gestational thyroid dysfunction. However, currently used risk factors have questionable discriminative... (Meta-Analysis)
Meta-Analysis
International guidelines recommend targeted screening to identify gestational thyroid dysfunction. However, currently used risk factors have questionable discriminative ability. We quantified the risk for thyroid function test abnormalities for a subset of risk factors currently used in international guidelines. We included prospective cohort studies with data on gestational maternal thyroid function and potential risk factors (maternal age, body mass index [BMI], parity, smoking status, pregnancy through fertilization, twin pregnancy, gestational age, maternal education, and thyroid peroxidase antibody [TPOAb] or thyroglobulin antibody [TgAb] positivity). Exclusion criteria were pre-existing thyroid disease and use of thyroid interfering medication. We analyzed individual participant data using mixed-effects regression models. Primary outcomes were overt and subclinical hypothyroidism and a treatment indication (defined as overt hypothyroidism, subclinical hypothyroidism with thyrotropin >10 mU/L, or subclinical hypothyroidism with TPOAb positivity). The study population comprised 65,559 participants in 25 cohorts. The screening rate in cohorts using risk factors currently recommended (age >30 years, parity ≥2, BMI ≥40) was 58%, with a detection rate for overt and subclinical hypothyroidism of 59%. The absolute risk for overt or subclinical hypothyroidism varied <2% over the full range of age and BMI and for any parity. Receiver operating characteristic curves, fitted using maternal age, BMI, smoking status, parity, and gestational age at blood sampling as explanatory variables, yielded areas under the curve ranging from 0.58 to 0.63 for the primary outcomes. TPOAbs/TgAbs positivity was associated with overt hypothyroidism (approximate risk for antibody negativity 0.1%, isolated TgAb positivity 2.4%, isolated TPOAb positivity 3.8%, combined antibody positivity 7.0%; < 0.001), subclinical hypothyroidism (risk for antibody negativity 2.2%, isolated TgAb positivity 8.1%, isolated TPOAb positivity 14.2%, combined antibody positivity 20.0%; < 0.001) and a treatment indication (risk for antibody negativity 0.2%, isolated TgAb positivity 2.2%, isolated TPOAb positivity 3.0%, and combined antibody positivity 5.1%; < 0.001). Twin pregnancy was associated with a higher risk of overt hyperthyroidism (5.6% vs. 0.7%; < 0.001). The risk factors assessed in this study had poor predictive ability for detecting thyroid function test abnormalities, questioning their clinical usability for targeted screening. As expected, TPOAb positivity (used as a benchmark) was a relevant risk factor for (subclinical) hypothyroidism. These results provide insights into different risk factors for gestational thyroid dysfunction.
Topics: Humans; Pregnancy; Female; Risk Factors; Pregnancy Complications; Hypothyroidism; Thyroid Function Tests; Adult; Autoantibodies; Body Mass Index; Iodide Peroxidase; Prospective Studies; Maternal Age; Thyrotropin
PubMed: 38546971
DOI: 10.1089/thy.2023.0646 -
Semergen Apr 2020
Topics: Humans; Hypothyroidism; Nephrotic Syndrome; Thyroxine
PubMed: 32107148
DOI: 10.1016/j.semerg.2019.12.013