Page last updated: 2024-11-06

thyroxine and Orphan Diseases

thyroxine has been researched along with Orphan Diseases in 15 studies

Thyroxine: The major hormone derived from the thyroid gland. Thyroxine is synthesized via the iodination of tyrosines (MONOIODOTYROSINE) and the coupling of iodotyrosines (DIIODOTYROSINE) in the THYROGLOBULIN. Thyroxine is released from thyroglobulin by proteolysis and secreted into the blood. Thyroxine is peripherally deiodinated to form TRIIODOTHYRONINE which exerts a broad spectrum of stimulatory effects on cell metabolism.
thyroxine : An iodothyronine compound having iodo substituents at the 3-, 3'-, 5- and 5'-positions.

Orphan Diseases: Rare diseases that have not been well studied.

Research Excerpts

ExcerptRelevanceReference
" Our overall aim is to develop a model that can be applied to optimize dosing in this pediatric patient population since suboptimal treatment of CH during the first 2 years of life is associated with a reduced intelligence quotient between 10 and 14 years."5.62Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study. ( Bachmann, F; Gächter, P; Gotta, V; Janner, M; Koch, G; Konrad, D; L'Allemand, D; Leroux, S; Pfister, M; Schropp, J; Steffens, B; Szinnai, G; Welzel, T, 2021)
" It results from reduced intracellular action of thyroid hormones (TH) genetically determined and manifests as persistent hyperthyroxinemia with non-suppressed thyroid-stimulating hormone (TSH)."3.80A case of thyroid hormone resistance: a rare mutation. ( Aragüés, JM; Barbosa, AP; Gonçalves, AP; Mascarenhas, M; Nobre, E, 2014)
"Central hypothyroidism is a rare and heterogeneous disorder that is characterized by a defect in thyroid hormone secretion in an otherwise normal thyroid gland due to insufficient stimulation by TSH."2.55Central hypothyroidism - a neglected thyroid disorder. ( Beck-Peccoz, P; Giavoli, C; Lania, A; Rodari, G, 2017)
" Our overall aim is to develop a model that can be applied to optimize dosing in this pediatric patient population since suboptimal treatment of CH during the first 2 years of life is associated with a reduced intelligence quotient between 10 and 14 years."1.62Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study. ( Bachmann, F; Gächter, P; Gotta, V; Janner, M; Koch, G; Konrad, D; L'Allemand, D; Leroux, S; Pfister, M; Schropp, J; Steffens, B; Szinnai, G; Welzel, T, 2021)
"The diagnosis of Hashimoto's encephalopathy is made when no other cause is found for an acute encephalopathic illness, in the presence of positive thyroid autoantibodies, and is supported by a response to steroid therapy."1.40Endocrine encephalopathy. ( Hunt, P; Soule, S; Yong, KW, 2014)

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-19905 (33.33)18.7374
1990's0 (0.00)18.2507
2000's1 (6.67)29.6817
2010's8 (53.33)24.3611
2020's1 (6.67)2.80

Authors

AuthorsStudies
Koch, G1
Steffens, B1
Leroux, S1
Gotta, V1
Schropp, J1
Gächter, P1
Bachmann, F1
Welzel, T1
Janner, M1
L'Allemand, D1
Konrad, D1
Szinnai, G1
Pfister, M1
Beck-Peccoz, P1
Rodari, G1
Giavoli, C1
Lania, A1
Szczepanek-Parulska, E1
Zybek-Kocik, A1
Wartofsky, L1
Ruchala, M1
Setty, NS1
Sadananda, KS1
Nanjappa, MC1
Patra, S1
Basappa, H1
Krishnappa, S1
Sellappan, B1
Chakraborty, M1
Cherian, S1
Yong, KW1
Soule, S1
Hunt, P1
Rodrigues, F1
Grenha, J1
Ortez, C1
Nascimento, A1
Morte, B1
M-Belinchón, M1
Armstrong, J1
Colomer, J1
Lang, D1
Mead, JS1
Sykes, DB1
Gonçalves, AP1
Aragüés, JM1
Nobre, E1
Barbosa, AP1
Mascarenhas, M1
Bandhakavi, M1
ALBRIGHT, EC1
LARSON, FC1
DEISS, WP1
LISSITZKY, S2
BISMUTH, J1
BACKER, ET1
HEIDER, JG1
BRONK, JR1

Reviews

3 reviews available for thyroxine and Orphan Diseases

ArticleYear
Central hypothyroidism - a neglected thyroid disorder.
    Nature reviews. Endocrinology, 2017, Volume: 13, Issue:10

    Topics: Female; Humans; Hypothalamus; Hypothyroidism; Male; Neglected Diseases; Pituitary Gland; Rare Diseas

2017
Thyroid Hemiagenesis: Incidence, Clinical Significance, and Genetic Background.
    The Journal of clinical endocrinology and metabolism, 2017, 09-01, Volume: 102, Issue:9

    Topics: Animals; DNA-Binding Proteins; Female; Genetic Background; Genetic Predisposition to Disease; Humans

2017
Hormones and the bone marrow: panhypopituitarism and pancytopenia in a man with a pituitary adenoma.
    Journal of general internal medicine, 2015, Volume: 30, Issue:5

    Topics: Adenoma; Bone Marrow; Drug Therapy, Combination; Hematologic Tests; Humans; Hypopituitarism; Kidney

2015

Other Studies

12 other studies available for thyroxine and Orphan Diseases

ArticleYear
Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study.
    Journal of pharmacokinetics and pharmacodynamics, 2021, Volume: 48, Issue:5

    Topics: Child, Preschool; Congenital Hypothyroidism; Female; Humans; Infant; Infant, Newborn; Longitudinal S

2021
Massive pericardial effusion and cardiac tamponade due to cholesterol pericarditis in a case of subclinical hypothyroidism: a rare event.
    Journal of the American College of Cardiology, 2014, Apr-15, Volume: 63, Issue:14

    Topics: Biopsy, Needle; Blood Chemical Analysis; Cardiac Tamponade; Echocardiography, Doppler; Female; Follo

2014
Congenital hypothyroidism presenting as pseudo-obstruction in preterm infants.
    BMJ case reports, 2014, May-15, Volume: 2014

    Topics: Congenital Hypothyroidism; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Infant, Newbo

2014
Endocrine encephalopathy.
    The New Zealand medical journal, 2014, May-23, Volume: 127, Issue:1394

    Topics: Autoantibodies; Brain Diseases; Encephalitis; Female; Follow-Up Studies; Hashimoto Disease; Humans;

2014
Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.
    BMC pediatrics, 2014, Oct-04, Volume: 14

    Topics: Child, Preschool; Humans; Male; Mental Retardation, X-Linked; Monocarboxylic Acid Transporters; Musc

2014
A case of thyroid hormone resistance: a rare mutation.
    Arquivos brasileiros de endocrinologia e metabologia, 2014, Volume: 58, Issue:9

    Topics: Aged; DNA; Exons; Female; Genes, erbA; Goiter; Humans; Hyperthyroxinemia; Mutation; Polymerase Chain

2014
Periodic paralysis as an unusual presentation of autoimmune hypothyroidism with goiter.
    Clinical pediatrics, 2009, Volume: 48, Issue:6

    Topics: Autoantibodies; Child; Female; Goiter; Humans; Hypokalemic Periodic Paralysis; Hypothyroidism; Rare

2009
Single dimension chromatographic separation of thyroxin and triiodothyronine.
    Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1953, Volume: 84, Issue:1

    Topics: Chromatography; Rare Diseases; Retinal Degeneration; Retinal Detachment; Thyroxine; Triiodothyronine

1953
[Separation of iodothyronines of biologic interest by paper electrophoresis].
    Comptes rendus hebdomadaires des seances de l'Academie des sciences, 1954, Mar-08, Volume: 238, Issue:10

    Topics: Biological Products; Electrophoresis; Electrophoresis, Paper; Rare Diseases; Retinal Degeneration; R

1954
[Separation and determination of iodized serum components by dextran gel (sephadex) filtration].
    Pathologie et biologie, 1963, Volume: 11

    Topics: Blood Chemical Analysis; Chromatography; Dextrans; Diiodotyrosine; Filtration; Humans; Iodine Isotop

1963
[A METHOD FOR THE DETERMINATION OF THYROXIN AND TRIIODOTHYRONINE AFTER PAPER CHROMATOGRAPHIC SEPARATION].
    Pharmaceutisch weekblad, 1963, Sep-13, Volume: 98

    Topics: Chemistry Techniques, Analytical; Chromatography; Chromatography, Paper; Rare Diseases; Thyroxine; T

1963
A RAPID SEPARATION OF THYROXINE AND SOME OF ITS ANALOGUES BY THIN-LAYER CHROMATOGRAPHY.
    Biochimica et biophysica acta, 1965, Feb-08, Volume: 95

    Topics: Chromatography; Chromatography, Thin Layer; Organic Chemicals; Rare Diseases; Research; Thyroid Horm

1965