Database : MEDLINE
Search on : congenital and hypothyroidism [Words]
References found : 5400 [refine]
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[PMID]: 29493130
[Au] Autor:Roberts A; Nip A; Verma A; LaRoche A
[Ad] Address:Seattle Children's Hospital, OC.7.820 - Endocrinology, 4800 Sand Point Way NE, Seattle, WA 98105, USA.
[Ti] Title:Meeting Report: 2017 International Joint Meeting of Pediatric Endocrinology Washington DC (September 14-17, 2017) Selected Highlights.
[So] Source:Pediatr Endocrinol Rev;15(3):255-266, 2018 03.
[Is] ISSN:1565-4753
[Cp] Country of publication:Israel
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.17458/per.vol15.2018.rnvl.intjointwashington

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[PMID]: 29425110
[Au] Autor:Yamaguchi T; Hothubo T; Morikawa S; Nakamura A; Mori T; Tajima T
[Ad] Address:Department of Pediatrics, Hokkaido University School of Medicine, Kita-ku, Sapporo, Japan.
[Ti] Title:A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation.
[So] Source:J Pediatr Endocrinol Metab;31(3):355-359, 2018 Mar 28.
[Is] ISSN:2191-0251
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: IGSF1 abnormality causes diverse symptoms, including congenital central hypothyroidism (CCH), prolactin hyposecretion, testicular enlargement and delayed puberty. CASE PRESENTATION: Here, we report a case of a male patient who visited our hospital with a chief complaint of abdominal pain and short stature, in whom we identified a novel IGSF1 mutation. He was closely examined because of chronic constipation since infancy, persistent abdominal pain at 14 years of age and marked short stature (-4.7 standard deviation [SD] for normal Japanese boys). He was diagnosed with CCH. Decreased prolactin (PRL) secretion was also observed. IGSF1 analysis revealed a novel mutation at the splicing donor site (c.2065+1G>A) in intron 11. In silico analysis predicted this mutation to be a non-functional splice donor site. After thyroid hormone replacement, his thyroid function, constipation and growth rate improved. CONCLUSIONS: This is the first report of a patient in whom constipation and short stature led to a diagnosis of CCH with a novel IGSF1 mutation.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Process

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[PMID]: 29522169
[Au] Autor:Amano I; Takatsuru Y; Khairinisa MA; Kokubo M; Haijima A; Koibuchi N
[Ad] Address:Department of Integrative Physiology, Gunma University Graduate School of Medicine.
[Ti] Title:Effects of mild perinatal hypothyroidism on cognitive function of adult male offspring.
[So] Source:Endocrinology;, 2018 Mar 07.
[Is] ISSN:1945-7170
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mild perinatal hypothyroidism may result from inadequate iodine intake, insufficient treatment of congenital hypothyroidism, or exposure to endocrine disrupting chemicals. Because thyroid hormone is critical for brain development, severe hypothyroidism that is untreated in infancy causes irreversible cretinism. Milder hypothyroidism may also affect cognitive development; however, the effects of mild and/or moderate hypothyroidism on brain development are not fully understood. In this study, we examined the behavior of adult male mice rendered mildly hypothyroid during the perinatal period using low-dose propylthiouracil (PTU). PTU was administered through drinking water (5 or 50 ppm) from gestational day 14 to postnatal day 21. Cognitive performance, studied by a novel object in-location test (OLT), was impaired in PTU-treated mice on postnatal week 8. These results suggest that, although the hypothyroidism was mild, it partially impaired cognitive function. We next measured the concentration of neurotransmitters (glutamate, gamma amino butyric acid, and glycine) in the hippocampus using in vivo microdialysis during OLT. We found that the concentrations of neurotransmitters, particularly glutamate and glycine, decreased in PTU-treated mice. The expression levels of N-methyl-d-aspartate receptor subunits, which are profound regulators of glutamate neurotransmission and memory function, also decreased in PTU-treated mice. These data indicate that mild perinatal hypothyroidism causes cognitive disorders in adult offspring. Such disorders may be partially induced secondary to decreased concentrations of neurotransmitters and receptor expression.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.1210/en.2017-03125

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[PMID]: 29330744
[Au] Autor:Song H; Zheng Y; Cai F; Ma Y; Yang J; Wu Y
[Ad] Address:Department of Pediatrics, Affiliated Hospital of Nantong University, 20 Xi Si Road, Nantong, 226001, Jiangsu Province, China.
[Ti] Title:c-Fos downregulation positively regulates EphA5 expression in a congenital hypothyroidism rat model.
[So] Source:J Mol Histol;49(2):147-155, 2018 Apr.
[Is] ISSN:1567-2387
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:The EphA5 receptor is well established as an axon guidance molecule during neural system development and plays an important role in dendritic spine formation and synaptogenesis. Our previous study has showed that EphA5 is decreased in the developing brain of congenital hypothyroidism (CH) and the EphA5 promoter methylation modification participates in its decrease. c-Fos, a well-kown transcription factor, has been considered in association with brain development. Bioinformatics analysis showed that the EphA5 promoter region contained five putative c-fos binding sites. The chromatin immunoprecipitation (ChIP) assays were used to assess the direct binding of c-fos to the EphA5 promoter. Furthermore, dual-luciferase assays showed that these three c-fos protein binding sites were positive regulatory elements for EphA5 expression in PC12 cells. Moreover, We verified c-fos positively regulation for EphA5 expression in CH model. Q-PCR and Western blot showed that c-fos overexpression could upregulate EphA5 expression in hippocampal neurons of rats with CH. Our results suggest that c-fos positively regulates EphA5 expression in CH rat model.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process
[do] DOI:10.1007/s10735-018-9754-7

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[PMID]: 29325045
[Au] Autor:Aleksander P; Brückner-Spieler M; Stöhr AM; Lankes E; Kühnen P; Schnabel D; Ernert A; Stäblein W; Craig ME; Blankenstein O; Grüters A; Krude H
[Ad] Address:Institute for Experimental Pediatric Endocrinology, Charité Universitätsmedizin Berlin, Germany.
[Ti] Title:Mean high dose L-thyroxine treatment is efficient and safe to achieve a normal IQ in young adult patients with congenital hypothyroidism.
[So] Source:J Clin Endocrinol Metab;, 2018 Jan 09.
[Is] ISSN:1945-7197
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Context: The optimal levothyroxine (LT4) dose required to treat congenital hypothyroidism (CH) remains unclear, with a debate if higher starting doses (>10µg/kg) are necessary and safe for normal Intelligence Quotient (IQ). Objective: To examine the psychomotor, metabolic and quality of life outcome in patients with CH treated with a mean high initial LT4 dose. Design, settings, participants: A cross- sectional cohort study of CH patients identified in the Berlin newborn screening programme from 1979-2003. Total of 76 CH patients (mean age 18 years, mean initial LT4 dose 13.5µg/kg) and 40 siblings completed the study. Main outcome measures: Psychomotor (Wechsler Intelligence Test, CNS Vital Signs), quality of life (QoL, SF 36 Health Survey), anthropometric (BMI, height) and metabolic (Intima Media Thickness, laboratory parameters) outcomes were compared to healthy siblings. Mean values and percentage of episodes of elevated T4, T3 and suppressed TSH before age two years were analysed. A meta- analysis of treatment CH studies was performed. Results: There were no significant differences in IQ, QoL or other outcome measures compared with controls. The majority of T4 levels were high before age two years and during subsequent testing, but mean T3 and TSH levels remained normal. The meta-analysis showed a significant IQ difference in severe versus mild CH cases only if treatment started with a LT4 dose < 10µg/kg. Conclusions: High initial LT4 dosing is effective and safely achieves optimal cognitive development in CH, including those severely affected. Supra-normal T4 values during infancy are not associated with impaired IQ in adolescence.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1210/jc.2017-01937

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[PMID]: 29325028
[Au] Autor:Zwaveling-Soonawala N; van Trotsenburg ASP; Verkerk PH
[Ad] Address:Emma Children's Hospital, Academic Medical Center, Department of Pediatric Endocrinology, Amsterdam, The Netherlands.
[Ti] Title:TSH and FT4 concentrations in congenital central hypothyroidism and mild congenital thyroidal hypothyroidism.
[So] Source:J Clin Endocrinol Metab;, 2018 Jan 09.
[Is] ISSN:1945-7197
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Context: In central hypothyroidism (CeH) free thyroxine (FT4) concentrations are low while TSH concentrations may be low, normal or even slightly elevated due to reduced bioactivity. Congenital CeH (CCeH) may be isolated or part of multiple pituitary hormone deficiency (MPHD). Objective: To test our hypotheses that (1) TSH concentrations have a more U-shaped distribution in children with CCeH compared to children with a normally functioning hypothalamic-pituitary-thyroid-axis, and (2) TSH concentrations in children with CCeH with MPHD are higher compared to children with isolated CCeH. We also studied whether FT4 levels are helpful in distinguishing CCeH from mild primary CH (CH-T). Methods: Dutch neonatal screening TSH and first diagnostic TSH and FT4 were analyzed of all children diagnosed with permanent CCeH between 1995 and 2012. Controls were children with TBG deficiency. FT4 concentrations in CCeH were compared to those in CH-T with TSH-values in the same range as those of CCeH. Results: We studied 120 children with CCeH (isolated CCeH, N=50; MPHD, N=70) and 350 controls. Screening TSH concentrations were not significantly different (p =0.055) but diagnostic TSH values were significantly different between the CCeH group and the control group (p=0.037). TSH was significantly higher in MPHD compared to isolated CCeH (p=0.004). FT4 concentrations were significantly lower in CCeH compared to mild CH-T (p<0.0005). Conclusion: TSH values in CCeH have a more U-shaped distribution compared to controls with the TSH concentrations in CCeH with MPHD. FT4 levels were significantly lower in CCeH compared to CH-T.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1210/jc.2017-01577

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[PMID]: 29507327
[Au] Autor:Yang J; Yi N; Zhang J; He W; He D; Wu W; Xu S; Li F; Fan G; Zhu X; Xue Z; Zhou W
[Ad] Address:Department of Otorhinolaryngology Head and Neck Surgery, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, 330006, China.
[Ti] Title:Generation and characterization of a hypothyroidism rat model with truncated thyroid stimulating hormone receptor.
[So] Source:Sci Rep;8(1):4004, 2018 Mar 05.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Thyroid stimulating hormone receptor (TSHR), a G-protein-coupled receptor, is important for thyroid development and growth. In several cases, frameshift and/or nonsense mutations in TSHR were found in the patients with congenital hypothyroidism (CH), however they have not been functionally studied in an animal model. In the present work, we generated a unique Tshr rat model that recapitulates the phenotypes in TSHR Y444X patient by CRISPR/Cas genome editing technology. In this rat model, TSHR is truncated at the second transmembrane domain, leading to CH phenotypes as what was observed in the patients, including dwarf, thyroid aplasia, infertility, TSH resistant as well as low serum thyroid hormone levels. The phenotypes can be reversed, at least partially, by levothyroxine (L-T4) treatment after weaning. The thyroid development is severely impaired in the Tshr rats due to the suppression of the thyroid specific genes, i.e., thyroperoxidase (Tpo), thyroglobulin (Tg) and sodium iodide symporter (Nis), at both mRNA and protein levels. In conclusion, the Tshr rat serves as a brand new genetic model to study CH in human, and will greatly help to shed light into the development of terminal organs that are sensitive to thyroid hormones.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review
[do] DOI:10.1038/s41598-018-22405-7

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[PMID]: 29503268
[Au] Autor:N Menon PS
[Ad] Address:Department of Pediatrics, Jaber Al-Ahmed Armed Forces Hospital, Kuwait psnmenon@hotmail.com.
[Ti] Title:Prevention of Neurocognitive Impairment in Children Through Newborn Screening for Congenital Hypothyroidism.
[So] Source:Indian Pediatr;55(2):113-114, 2018 Feb 15.
[Is] ISSN:0974-7559
[Cp] Country of publication:India
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Data-Review

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[PMID]: 29500308
[Au] Autor:Leger J; Forhan A; Dos Santos S; Larroque B; Ecosse E; Charles MA; Heude B
[Ad] Address:J Leger, Paediatric endocrinology, Hôpital Robert Debre, Paris, 75019, France juliane.leger@aphp.fr.
[Ti] Title:Developmental milestones at one year for the offspring of mothers with congenital hypothyroidism: a population-based study.
[So] Source:Eur J Endocrinol;, 2018 Mar 02.
[Is] ISSN:1479-683X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVE: Maternal thyroid dysfunction during pregnancy is associated with neurodevelopmental impairment in the offspring. No data are currently available for the offspring of patients treated early for congenital hypothyroidism(CH). The aim of this study was to investigate motor and language milestones at one year of age in a population-based registry of children born to young women with CH. DESIGN AND METHODS: We assessed 110 children born to mothers with CH, and 1367 children from the EDEN French population-based birth cohort study prospectively, at the age of one year, with identical questionnaires. Outcomes were assessed in terms of scores for childhood developmental milestones relating to mobility, motor coordination, communication, motricity and language skills. RESULTS: After adjustment for confounding factors, children born to mothers with CH were found to have a higher risk of poor motor coordination than those of the EDEN cohort (OR:4.18;95%CI 2.52-6.93). No differences were identified for the other four domains investigated. Children born to mothers with gestational diabetes have a higher risk of low motor coordination score than their peers (OR:2.10;95%CI 1.21-3.66). Children born to mothers with TSH≥10 mIU/l during the first six months of pregnancy were more likely to have low motricity or communication skills scores than those born to mothers with lower TSH concentrations (56% vs 21% for each score,p<0.04). CONCLUSIONS: Maternal CH may have slight adverse effects on some developmental milestones in the child at one year of age, particularly for children born to mothers with uncontrolled hypothyroidism. However, it remains unclear whether these adverse effects modify subsequent neurodevelopment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:Publisher

  10 / 5400 MEDLINE  
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[PMID]: 29289388
[Au] Autor:Shiohama T; Ohashi H; Shimizu K; Fujii K; Oba D; Takatani T; Kato M; Shimojo N
[Ad] Address:Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan. Electronic address: asuha_hare@chiba-u.jp.
[Ti] Title:l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report.
[So] Source:Brain Dev;40(4):353-356, 2018 Apr.
[Is] ISSN:1872-7131
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Benign hereditary chorea (BHC) is a rare autosomal dominant disease that is characterized by non-progressive chorea with early-childhood-onset, congenital hypothyroidism, and neonatal respiratory distress. Although tetrabenazine and levodopa are partly effective for chorea and drop attacks in some patients, there is no standard treatment option. We herein describe a childhood case of BHC that presented with l-thyroxine-responsive drop attacks. A genetic analysis revealed an interstitial deletion that included two enhancer regions of NKX2-1, providing genetic confirmation of BHC. This is the first report to inform the connection between thyroid function and drop attacks in BHC. Moreover, our findings identify l-thyroxine as a therapeutic option for the management of drop attacks in BHC.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:In-Process


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