scholarly journals Congenital Hypothyroidism: Screening, Diagnosis and Treatment from the Perspective of Current International Guidelines

2019 ◽  
pp. 46-52
Author(s):  
M.E. Mamenko ◽  
Blood ◽  
2020 ◽  
Author(s):  
Hanny Al-Samkari

Hereditary hemorrhagic telangiectasia (HHT) management is evolving due to the emergence and development of antiangiogenic therapies to eliminate bleeding telangiectasias and achieve hemostasis. This is reflected in recent clinical recommendations published in the Second International Guidelines for the Diagnosis and Treatment of HHT, in which systemic therapies including antiangiogenics and antifibrinolytics are now recommended as standard treatment options for bleeding. This review highlights the new recommendations especially relevant to hematologists in managing bleeding, anticoagulation, and anemia in patients with HHT.


1985 ◽  
Vol 19 (4) ◽  
pp. 192A-192A
Author(s):  
Joseph Sack ◽  
Abraham Elicer ◽  
Rlvka Sofrin ◽  
Rachel Theoder ◽  
Bernard Cohen ◽  
...  

Author(s):  
Luke Cielonko ◽  
Tyler Hamby ◽  
John S. Dallas ◽  
Luke Hamilton ◽  
Don P. Wilson

AbstractBackground:Early diagnosis and expeditious treatment of newborns with congenital hypothyroidism (CH) is necessary to avoid mental retardation.Methods:A survey of 44 practitioners in the southern US was conducted to better understand common practices regarding neonatal CH and the findings were compared with current guidelines in the US and Europe.Results:Responses indicated some consensus that 10–15 μg of thyroid hormone/kg/day was the appropriate dosage. However, despite guidelines advocating their use, practitioners reported that they did not commonly use imaging or laboratory tests, though experienced providers apparently used them more often.Conclusions:Together, these results show moderate adherence to published guidelines for treating and diagnosing CH. Further research is needed to determine why providers deviate from these guidelines and to generalize these results to other populations.


2021 ◽  
Vol 13 (1) ◽  
pp. 01-06
Author(s):  
Franciele Cardoso Leite ◽  
Patricia Martins Luizari Escoboza

Congenital hypothyroidism is a cause of mental retardation and has nonspecific signs and symptoms. Early diagnosis and treatment are essential for the normal development of children affected by this disorder. The objective of this study was to evaluate theincidence of changes in the screening tests of public hospitals in Presidente Prudente, the average age of the newborn at the time of collection of tests and confirmation of the diagnosis. A retrospective cross-sectional study was carried out to assess the data of newborns who underwent the “heel prick test” by the unified health system in 2017. Of the 3,351 evaluated, 48 had elevated levels of Thyroid Stimulating Hormone(TSH), 13 had the diagnosis confirmed congenital hypothyroidism. It was 61.54% the children that returned between days 16 and 30 to confirm the result and 23.07% that returned after 61 days. Early diagnosis and treatment is essential, as they enable mitigating actions for the serious cognitive and behavioral disorders of affected patients.


1977 ◽  
Vol 23 (9) ◽  
pp. 1644-1647 ◽  
Author(s):  
M K Bluett ◽  
E O Reiter ◽  
G E Duckett ◽  
A W Root

Abstract The importance of early diagnois and treatment of congenital hypothyroidism has been well established, and several screening programs have been undertaken to detect neonates with this disorder by measurement of concentrations of thyrotropin or thyroxine in the serum. However, measurement of either hormone alone may fail to identify all affected patients. Accordingly, we have established a simultaneous double-antibody, dual-isotope radioimmunoassay for both. Sensitivity, slope, analytical recovery, and precision characteristics of the simultaneous assay do not differ from those of each assay performed separately. Values for the two analyses in the single and simultaneous assays correlate well (r = 0.951 for thyroxine, 0.983 for thyrotropin). This assay system permits determination of both hormones within 72 h after specimen collection and thus should allow more rapid evaluation, diagnosis, and treatment of infants with congenital hypothyroidism.


2011 ◽  
Vol 96 (10) ◽  
pp. 2959-2967 ◽  
Author(s):  
Stephen H. LaFranchi

Abstract Congenital hypothyroidism, occurring in 1:3000 newborns, is one of the most common preventable causes of mental retardation. Neurodevelopmental outcome is inversely related to the age of diagnosis and treatment. Infants detected through newborn screening programs and started on l-T4 in the first few weeks of life have a normal or near-normal neurodevelopmental outcome. The recommended starting dose of l-T4 (10–15 μg/kg · d) is higher on a weight basis than the dose for children and adults. Tailoring the starting l-T4 dose to the severity of the hypothyroidism will normalize serum T4 and TSH as rapidly as possible. It is important to obtain confirmatory serum thyroid function tests before treatment is started. Further diagnostic studies, such as radionuclide uptake and scan and ultrasonography, may be performed to determine the underlying cause of hypothyroidism. Because results from these tests generally do not alter the initial treatment decision, however, these diagnostic studies are rarely indicated. The developing brain has a critical dependence on thyroid hormone for the first 2–3 yr of life; thus, monitoring occurs at more frequent intervals than in older children and adults. Serum free T4 and TSH should be checked at intervals frequent enough to ensure timely adjustment of l-T4 dosing and to keep serum free T4 and TSH levels in target ranges. Given the success of early detection and treatment of neonates with congenital hypothyroidism, a public health mandate should be to develop similar programs for the 75% of babies worldwide who are born in areas without newborn screening programs.


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