Congenital Hypothyroidism: Incidence, Etiology and Laboratory Screening

Kurniawan, Liong Boy

doi:10.24293/ijcpml.v26i3.1527

Cited by 4 publications

(7 citation statements)

References 14 publications

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“…The best way to prevent late diagnosis of CH is to conduct a large population screening of newborns. 6 Newborn screening programs were established in many developed countries in the 1970s. Many studies have reported success in normalizing cognitive outcomes in children with severe primary CH.…”

Section: Abstrakmentioning

confidence: 99%

Screening T4 and TSH in Early Detection of Congenital Hypothyroidism in Newborns: What’s the Dilemma?

Mashabi

2024

J Biomedika dan Kesehat

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Untreated congenital hypothyroidism (CH) leads to intellectual disability. Newborn screening (NBS) for CH should be done on all infants. Prompt diagnosis by NBS leads to early and adequate treatment outcomes in very normal neurocognitive outcomes in adulthood. Newborn screening (NBS) for congenital hypothyroidism (CH) is one of the major achievements in preventive medicine. Most neonates born with CH have a normal appearance and no detectable physical signs. Blood spot thyroid stimulating hormone (TSH), thyroxine (T4), or both can be used for CH screening. The latter is more sensitive but not cost-effective, so screening by TSH or T4 is used in various programs worldwide. TSH screening is more specific in the diagnosis of CH. T4 screening is more sensitive in detecting newborns with rare hypothalamic-pituitary-hypothyroidism, but it’s less specific with a high frequency of false positives especially in low birth weight and premature infants. NBS alone is not sufficient to prevent adverse outcomes from CH in a pediatric population. In addition to NBS, the management of CH requires timely confirmation of the diagnosis and accurate interpretation of thyroid function testing, effective treatment, and consistent follow-up. Doctors need to consider hypothyroidism in the face of clinical symptoms, even if NBS thyroid test results are normal. When clinical symptoms and signs of hypothyroidism appear (such as large posterior fontanelles, large tongue, umbilical hernia, prolonged jaundice, constipation, lethargy, and/or hypothermia), measurement of serum thyroid hormone and free thyroxine is indicated, regardless of NBS results. So all these babies should be treated as having CH during the first 3 years of life, taking into account the risk of mental retardation. Re-evaluation after 3 years is required in such patients.

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Section: Abstrakmentioning

confidence: 99%

Screening T4 and TSH in Early Detection of Congenital Hypothyroidism in Newborns: What’s the Dilemma?

Mashabi

2024

J Biomedika dan Kesehat

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“…Hypothyroidism describes an endocrine disorder that occurs when the thyroid gland cannot secrete adequate thyroid hormones (1). The thyroid gland lies just beneath and laterally to the thyroid cartilage on the anterior neck side.…”

Section: Contextmentioning

confidence: 99%

Diagnosis and Management of Congenital Hypothyroidism: An Updated Overview

Koohmanaee,

Bakhshi,

Pourkazem

et al. 2023

J Compr Ped

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Context: Hypothyroidism describes an endocrine disorder that occurs when the thyroid gland cannot secrete adequate thyroid hormones. Congenital hypothyroidism refers to a lack of thyroid hormone among newborns. Evidence Acquisition: The ISI Web of Sciences, Scopus, PubMed, and Google Scholar databases were reviewed for relevant articles published from 2000 to 2022. Results: Congenital hypothyroidism, occurring in approximately one in 2,000 to one in 4,000 newborns, ranks among the most frequent causes of intellectual disability that can be prevented. The screening of newborns, confirmation assessments, interpretation of thyroid function tests accurately, prompt and therapeutic treatment, and regular follow-up contribute to a very good neurocognitive outcome later in life. Since the timely diagnosis of congenital hypothyroidism is critical in preventing mental retardation, clinicians must be kept abreast of this disorder and educate nursing and medical students regarding accurate interpretations of diagnostic testing and the recognition of associated symptoms. Most newborns with congenital hypothyroidism present no symptoms, even though their TSH or T4 levels are likely to have fluctuated significantly. As a result, congenital hypothyroidism was rarely detected in newborns before the introduction of neonatal screenings. Conclusions: We provide an overview of the etiology, epidemiology, manifestation, diagnosis, and treatment of congenital hypothyroidism based on the latest studies.

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“…Then it is expected that the FT4 level is above the middle reference level for age [3]. The first few months after giving birth is the most critical period of growth and brain development stimulated by thyroid hormone [14]. Therefore, early detection and treatment are necessary.…”

Section: Treatment and Prognosis Of Thyroid Disordersmentioning

confidence: 99%

“…Studies show a negative relationship between age and IQ scores. The earlier detection and treatment of hypothyroidism increase the patient's IQ score [3], [14].…”

Section: Treatment and Prognosis Of Thyroid Disordersmentioning

confidence: 99%

Thyroid Function Screening in Newborn: A Literature Review

Tristianti¹

2022

EJMED

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The thyroid hormone has a vital role in the growth and maturation of many target tissues, especially the brain and bone. Abnormalities of thyroid gland function in neonates not only cause metabolic disorders such as thyroid disorders in adults but also cause tissue abnormalities whose growth and maturation depend on thyroid hormone. Furthermore, they are at high risk for permanent mental retardation if they do not get treatment immediately. Thyroid function abnormalities often do not show typical clinical signs and symptoms at birth, even though the duration of early intervention is very short to prevent mental retardation. Therefore, it is important to detect thyroid abnormalities in infants early through thyroid hormone screening in neonates. Most states use TSH for primary screening, with T4 as the second level of testing. Testing before the recommended time will detect a physiological TSH spike, causing a falsely abnormal result. The earlier the detection and treatment of hypothyroidism, the better the patient's prognosis.

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Congenital Hypothyroidism: Incidence, Etiology and Laboratory Screening

Cited by 4 publications

References 14 publications

Screening T4 and TSH in Early Detection of Congenital Hypothyroidism in Newborns: What’s the Dilemma?

Screening T4 and TSH in Early Detection of Congenital Hypothyroidism in Newborns: What’s the Dilemma?

Diagnosis and Management of Congenital Hypothyroidism: An Updated Overview

Thyroid Function Screening in Newborn: A Literature Review

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