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https://www.readbyqxmd.com/read/28648512/the-multiple-genetic-causes-of-central-hypothyroidism
#1
REVIEW
Luca Persani, Marco Bonomi
An insufficient stimulation by thyrotropin (TSH) of an otherwise normal thyroid gland represents the cause of Central Hypothyrodism (CeH). CeH is about 1000-folds rarer than Primary Hypothyroidism and often represents a real challenge for the clinicians, mainly because they cannot rely on adequately sensitive parameters for diagnosis or management, as it occurs with circulating TSH in PH. Therefore, CeH diagnosis can be frequently missed or delayed in patients with a previously unknown pituitary involvement...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648510/disorders-of-h2o2-generation
#2
REVIEW
Marina Muzza, Laura Fugazzola
After the identification of thyroid H2O2 generation system (DUOX) and of its maturation factors (DUOXA), defects in DUOX2 and/or DUOXA2 were rapidly recognized as the possible cause of congenital hypothyroidism (CH) due to thyroid dyshormonogenesis. The present Review reports data on the prevalence of DUOX2 mutations, which is variable among different series but invariably high, pointing to DUOX2 defects as one of the leading causes of dyshormonogenesis. Differently, DUOXA defects seem to be rarely involved in the pathogenesis of CH...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648509/pendred-syndrome
#3
REVIEW
Jean-Louis Wémeau, Peter Kopp
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4/PDS gene, which encodes the multifunctional anion exchanger pendrin...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648508/iodide-handling-disorders-nis-tpo-tg-iyd
#4
REVIEW
Héctor M Targovnik, Cintia E Citterio, Carina M Rivolta
Iodide Handling Disorders lead to defects of the biosynthesis of thyroid hormones (thyroid dyshormonogenesis, TD) and thereafter congenital hypothyroidism (CH), the most common endocrine disease characterized by low levels of circulating thyroid hormones. The prevalence of CH is 1 in 2000-3000 live births. Prevention of CH is based on prenatal diagnosis, carrier identification, and genetic counseling. In neonates a complete diagnosis of TD should include clinical examination, biochemical thyroid tests, thyroid ultrasound, radioiodine or technetium scintigraphy and perchlorate discharge test (PDT)...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648507/resistance-to-thyrotropin
#5
REVIEW
Helmut Grasberger, Samuel Refetoff
Resistance to thyrotropin (RTSH) is broadly defined as reduced sensitivity of thyroid follicle cells to stimulation by biologically active TSH due to genetic defects. Affected individuals have elevated serum TSH in the absence of goiter, with the severity ranging from nongoitrous isolated hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia. Conceptually, defects leading to RTSH impair both aspects of TSH-mediated action, namely thyroid hormone synthesis and gland growth. These include inactivating mutations in the genes encoding the TSH receptor and the PAX8 transcription factor...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648506/the-role-of-glis3-in-thyroid-disease-as-part-of-a-multisystem-disorder
#6
REVIEW
P Dimitri
Congenital hypothyroidism is the most common hereditary endocrine disorder. In a small number of cases, mutations have been identified that are associated with maldevelopment and maldescent of the thyroid. Some of these mutations present as syndromes with a multisystem phenotype such as NKX2-1, PAX8, and FOXE. The association of permanent neonatal diabetes and congenital hypothyroidism was first reported in 2003 and subsequently led to the identification GLIS3 as the mutation responsible for this presentation...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648505/hypothyroidism-associated-with-parathyroid-disorders
#7
REVIEW
Giovanna Mantovani, Francesca Marta Elli, Sabrina Corbetta
Hypothyroidism may occur in association with congenital parathyroid disorders determining parathyroid hormone insufficiency, which is characterized by hypocalcemia and concomitant inappropriately low secretion of parathormone (PTH). The association is often due to loss of function of genes common to thyroid and parathyroid glands embryonic development. Hypothyroidism associated with hypoparathyroidism is generally mild and not associated with goiter; moreover, it is usually part of a multisystemic involvement not restricted to endocrine function as occurs in patients with 22q11 microdeletion/DiGeorge syndrome, the most frequent disorders...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648504/disorders-of-thyroid-morphogenesis
#8
REVIEW
Rasha Abu-Khudir, Stéphanie Larrivée-Vanier, Jonathan D Wasserman, Johnny Deladoëy
Developmental anomalies of the thyroid gland, defined as thyroid dysgenesis, underlie the majority of cases of congenital hypothyroidism. Thyroid dysgenesis is predominantly a sporadic disorder although a reported familial enrichment, variation of incidence by ethnicity and the monogenic defects associated mainly with athyreosis or orthotopic thyroid hypoplasia, suggest a genetic contribution. Of note, the most common developmental anomaly, thyroid ectopy, remains unexplained. Ectopy may result from multiple genetic or epigenetic variants in the germline and/or at the somatic level...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648169/-the-incidence-of-congenital-hypothyroidism-is-increasing
#9
Tina Lund Leunbach, Pia Sønderby Christensen, Kurt Kristensen
The prognosis of primary congenital hypothyroidism, which has potentially devastating effects on neurodevelopment, has been almost eradicated after the implementation of the neonatal screening programme. Although early facilitation with substitution of levothyroxine is preventative, caution should still be taken in severe cases, as subtle psychomotor delays may occur. Treatment dose may be indicative of the severity and pathology behind the condition and can be used as guidance when deciding which patients should have a trial of levothyroxine in cases where the thyroid gland remains in situ...
June 26, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28646016/tshb-mrna-is-linked-to-cholesterol-metabolism-in-adipose-tissue
#10
José María Moreno-Navarrete, María Moreno, Francisco Ortega, Gemma Xifra, Shangyu Hong, John M Asara, José C E Serrano, Mariona Jové, Pavlos Pissios, Matthias Blüher, Wifredo Ricart, Manuel Portero-Otin, José Manuel Fernández-Real
Subclinical hypothyroidism is known to be associated with increased serum cholesterol. Since thyroid-stimulating hormone (TSH) exerts an inductor effect on cholesterol biosynthesis, we aimed to investigate the relationship between TSH mRNA and cholesterol metabolism in human adipose tissue (AT). Cross-sectionally, AT TSH-β (TSHB) mRNA was evaluated in 4 independent cohorts in association with serum total and LDL cholesterol, and AT lipidomics. Longitudinally, the effects of statins and of diet and exercise on AT TSHB mRNA were also examined...
June 23, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28644946/effectiveness-of-corticosteroid-injections-for-treatment-of-de-quervain-s-tenosynovitis
#11
Jinhee K Oh, Susan Messing, Ollivier Hyrien, Warren C Hammert
BACKGROUND: Although surgery can provide definitive treatment for de Quervain's tenosynovitis, nonoperative treatment could be preferable if symptoms are predictably relieved. We sought to determine the effectiveness of corticosteroid injections as treatment for de Quervain's tenosynovitis and to evaluate patient characteristics as predictors of treatment outcome. METHODS: A retrospective study was conducted using our institutional database International Classification of Disease, version 9 (ICD-9) code list for de Quervain's tenosynovitis...
July 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28640754/raised-tsh-is-associated-with-endothelial-dysfunction-in-metabolic-syndrome-a-case-control-study
#12
Ashok Kumar Ahirwar, Archana Singh, Anju Jain, Surajeet Kumar Patra, Binita Goswami, M K Bhatnagar, Jayashree Bhatacharjee
Introduction- Endothelial dysfunction has been considered as one of the important factor in pathogenesis of Metabolic Syndrome (Met S). Sub clinical hypothyroidism (SCH) has also been reported to be associated with Met S. The aim of our study is to evaluate the association of raised TSH with mediators of endothelial dysfunction in Met S with Sub clinical hypothyroidism as compared to healthy controls. Methods- Study population consisted of 100 subjects, out of which 50 were cases of Met S and 50 were healthy controls...
June 15, 2017: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/28640139/a-prisma-compliant-systematic-review-and-meta-analysis-of-the-relationship-between-thyroid-disease-and-different-levels-of-iodine-intake-in-mainland-china
#13
Wanwen Weng, Mengjie Dong, Jun Zhan, Jun Yang, Bo Zhang, Xingdong Zhao
BACKGROUND: Low-iodine intake has historically been an issue in China, causing widespread iodine deficiency diseases (IDD). China started to introduce universal salt iodization in 1995, but reports of increased thyroid disease are a concern and appropriate levels of iodine intake must be considered. OBJECTIVE: To assess the prevalence of thyroid disease with different urinary iodine concentrations (UICs) in the general population of those residing in mainland China...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28638825/thyroid-dysfunction-in-non-interferon-treated-hepatitis-c-patients-residing-in-hepatitis-endemic-area
#14
Nayab Batool, Shan Elahi, Nazish Saleem, Abrar Ashraf
BACKGROUND: Association of thyroid dysfunction (TD) with interferon treatment of HCV is well known to clinicians. However, a few studies have highlighted the role of hepatitis C virus per se in the development of TD. The aim of this study was to know the prevalence of TD in non-interferon treated HCV infected patients referred for thyroid function testing. PATIENTS AND METHODS: Among 557 ELISA-positive HCV patients 446 (341 females, 105 males) were selected for this study...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28638814/congenital-urogenital-abnormalities-in-children-with-congenital-hypothyroidism
#15
Parsa Yousefi Chaijan, Fatemeh Dorreh, Mojtaba Sharafkhah, Mohammad Amiri, Mohsen Ebrahimimonfared, Mohammad Rafeie, Fatemeh Safi
Background: Congenital hypothyroidism (CH), as one of the most common congenital endocrine disorders, may be significantly associated with congenital malformations. This study investigates urogenital abnormalities in children with primary CH (PCH). Methods: This case-control study was conducted on 200 children aged three months to 1 year, referred to Amir-Kabir Hospital, Arak, Iran. One hundred children with PCH, as the case group, and 100 healthy children, as the control group, were selected using convenient sampling...
2017: Medical Journal of the Islamic Republic of Iran
https://www.readbyqxmd.com/read/28638624/kikuchi-fujimoto-disease-a-case-report-of-a-multi-drug-resistant-grueling-disease
#16
Alexey Youssef, Rahaf Ali, Kinan Ali, Zuheir AlShehabi
Histiocytic necrotizing lymphadenitis or Kikuchi-Fujimoto disease (KFD) is characterized by its rare occurrence. Mostly prevalent among Asian women, KFD manifests with lymphadenopathy-affecting mostly cervical and rarely generalized or retroperitoneal regions-in addition to fever. It is a self-limited disease that resolves within 1-4 months, responding remarkably to glucocorticosteroids or hydroxychloroquine. However, some rare cases prove to be unresponsive to the previously mentioned therapies. Here is a description of a case of KFD affecting a 67-year-old Syrian woman with a history of hypothyroidism due to iodine-deficiency...
June 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28637843/poems-syndrome-a-rare-cause-of-exudative-ascites-and-chronic-peripheral-neuropathy
#17
Omar Al-Mayoof, Hana Al Sughaiyer, Wuroud Abuomar, Maria Khan
POEMS syndrome (Peripheral neuropathy, Organomegaly, Endocrinopathy, M protein, Skin changes) is a rare plasma cell disorder with multisystem involvementA 40-year-old man with a chronic history of unexplained peripheral neuropathy , presented with exudative ascites.He was found to have an incidental osteolytic lesion of the sacrum proven to be a plasmacytoma. Immunoelectrophoresis for monoclonal protein was negative.In addition, the patient was found to have hepatosplenomegaly, erectile dysfunction, hyperprolactinaemia and hypothyroidism...
June 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28637498/incidence-of-thyroid-dysfunction-in-an-iranian-adult-population-the-predictor-role-of-thyroid-autoantibodies-results-from-a-prospective-population-based-cohort-study
#18
Ashraf Aminorroaya, Rokhsareh Meamar, Massoud Amini, Awat Feizi, Azamosadat Tabatabae, Elham Faghih Imani
BACKGROUND: The prevalence of thyroid dysfunction is high in Isfahan, an area of iodine sufficient in Iran. The aim of this study is to investigate the incidence of thyroid dysfunctions in adults of metropolitan Isfahan and to determine the role of thyroid autoantibodies. METHODS: In a population-based cohort study in 2006-2011, we measured TSH, T4, T3, thyroid peroxidase antibody (TPOAb), and thyroglobulin antibody (TgAb) in 618 out of 2254 people who were euthyroid in 2006...
June 21, 2017: European Journal of Medical Research
https://www.readbyqxmd.com/read/28634858/distal-pain-and-carpal-tunnel-syndrome-diagnosis-among-cashiers-a-longitudinal-study
#19
Roberto Meroni, Paola Alberti, Paola Boria, Simone Giordano, Guido Cavaletti
OBJECTIVE: To estimate in a longitudinal study the yearly incidence of carpal tunnel syndrome (CTS) in a cohort of women working as cashiers. METHOD: A total of 198 cashiers, belonging to a cohort investigated in 2011-2012 for arm pain, were screened for re-assessment in 2015 (at least 40 months from the first examination), and 156 women had complete demographic, personal and working data allowing to be included in this study. On the basis of self- and clinician-administered questionnaires investigating the presence of CTS, all symptomatic patients underwent clinical and neurophysiological [nerve conduction studies (NCS) of median and ulnar nerves] assessments...
June 20, 2017: International Archives of Occupational and Environmental Health
https://www.readbyqxmd.com/read/28634600/oral-mucous-membrane-pemphigoid-associated-with-hypothyroidism-a-retrospective-study-and-a-case-report
#20
Ann Siassipour, Joseph Katz
OBJECTIVE: The purpose of the study was to evaluate the relationship between mucous membrane pemphigoid and a state of hypothyroidism. The study included analysis of the dental charts of 40 subjects with clinically and histologically confirmed diagnosis of mucous membrane pemphigoid and 35 age- and gender-matched subjects, from the same clinic, with no diagnosis of vesiculo-ulcerative lesions. RESULTS: Thirteen subjects from the pemphigoid group (32%) had a hypothyroid condition, compared to four subjects (11%) from the control group (P = ...
2017: Quintessence International
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