Faculty Opinions recommendation of Update of newborn screening and therapy for congenital hypothyroidism.

Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan, newborn screening programs for CH were introduced in 1979, and the clinical guidelines for newborn screening of CH were developed in 1998, revised in 2014, and are currently undergoing further revision. Newborn screening strategies are designed to detect the elevated levels of thyroid stimulating hormone (TSH) in most areas of Japan, although TSH and free thyroxine (FT4) are often measured simultaneously in some areas. Since 1987, in order not to observe the delayed rise in TSH, additional rescreening of premature neonates and low birth weight infants (<2000 g) at four weeks of life or when their body weight reaches 2500 g has been recommended, despite a normal initial newborn screening. Recently, the actual incidence of CH has doubled to approximately 1:2500 in Japan as in other countries. This increasing incidence is speculated to be mainly due to an increase in the number of mildly affected patients detected by the generalized lowering of TSH screening cutoffs and an increase in the number of preterm or low birth weight neonates at a higher risk of having CH than term infants.

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Current and future perspective of newborn screening: an Indian scenario

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2015-0009 ◽

2016 ◽

Vol 29 (1) ◽

Cited By ~ 11

Author(s):

Gurjit Kaur ◽

Kiran Thakur ◽

Sandeep Kataria ◽

Teg Rabab Singh ◽

Bir Singh Chavan ◽

...

Keyword(s):

Health Care ◽

Congenital Adrenal Hyperplasia ◽

Newborn Screening ◽

Health Care System ◽

Congenital Hypothyroidism ◽

G6pd Deficiency ◽

Metabolic Disorders ◽

Adrenal Hyperplasia ◽

Screening Programs ◽

Care System

AbstractNewborn screening comprises a paramount public health program seeking timely detection, diagnosis, and intervention for genetic disorders that may otherwise produce serious clinical consequences. Today newborn screening is part of the health care system of developed countries, whereas in India, newborn screening is still in the toddler stage.We searched PubMed with the keywords newborn screening for metabolic disorders, newborn screening in India, and congenital disorder in neonates, and selected publications that seem appropriate.In India, in spite of the high birth rate and high frequency of metabolic disorders, newborn screening programs are not part of the health care system. At Union Territory, Chandigarh in 2007, newborn screening was initiated and is currently ongoing for three disorders, that is, congenital hypothyroidism, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Prevalence of these disorders is found to be 1:1400 for congenital hypothyroidism, 1:6334 for congenital adrenal hyperplasia, and 1:80 for G6PD deficiency.Mandatory newborn screening for congenital hypothyroidism should be implemented in India, and other disorders can be added in the screening panel on the basis of region-wise prevalence. The objective of this review is to provide insight toward present scenario of newborn screening in India along with recommendations to combat the hurdles in the pathway of mandatory newborn screening.

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Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

Global Pediatric Health ◽

10.1177/2333794x14567193 ◽

2015 ◽

Vol 2 ◽

pp. 2333794X1456719 ◽

Cited By ~ 3

Author(s):

Xin Fan ◽

Shaoke Chen ◽

Jiale Qian ◽

Suren Sooranna ◽

Jingi Luo ◽

...

Keyword(s):

Newborn Screening ◽

Congenital Hypothyroidism ◽

Screening Program ◽

Thyroid Stimulating Hormone ◽

Who Guidelines ◽

Newborn Screening Program ◽

Study Results ◽

Stimulating Hormone

Background. A newborn screening program (NSP) for congenital hypothyroidism (CH) was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH) or transient CH (TCH) after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.

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A systematic review of the outcomes of false‐positive results on newborn screening for congenital hypothyroidism

Clinical Endocrinology ◽

10.1111/cen.14562 ◽

2021 ◽

Author(s):

Kerri R. Rosettenstein ◽

Samantha J. Lain ◽

Nicola Wormleaton ◽

Michelle M. Jack

Keyword(s):

Systematic Review ◽

Newborn Screening ◽

Congenital Hypothyroidism ◽

False Positive ◽

Positive Results

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Urinary iodine and thyroglobulin are useful markers in infants suspected of congenital hypothyroidism based on newborn screening

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2021-0205 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Makiko Tachibana ◽

Yoko Miyoshi ◽

Miho Fukui ◽

Shinsuke Onuma ◽

Tomoya Fukuoka ◽

...

Keyword(s):

Newborn Screening ◽

Congenital Hypothyroidism ◽

Clinical Course ◽

Urinary Iodine ◽

Iodine Status ◽

Need For Treatment ◽

Urine Creatinine ◽

Few Data ◽

The Relationship ◽

Serum Tsh

Abstract Objectives Iodine deficiency and excess both cause thyroid dysfunction. Few data describe the relationship between iodine status and outcomes of congenital hypothyroidism (CH) in iodine-sufficient areas. We investigated urinary iodine (UI) concentration and its relationship with the clinical course of CH. Methods We reviewed and retrospectively analyzed patients with positive newborn screening (NBS) for CH from January 2012 to June 2019 in Japan, obtaining UI and UI-urine creatinine ratio (UI/Cr), serum TSH, free T4, free T3 and thyroglobulin (Tg) at the first visit, TSH at NBS, levothyroxine (LT4) dose, and subsequent doses. A UI value of 100–299 μg/L was considered adequate. Results Forty-eight patients were included. Median UI and UI/Cr were 325 μg/L and 3,930 µg/gCr, respectively. UI was high (≥300 μg/L) in 26 (54%) and low (≤99 μg/L) in 11 (23%). LT4 was administered to 34 patients. Iodine status was not related to the need for treatment. We found a U-shaped relationship between Tg and UI/Cr. Patients with high Tg (≥400 ng/mL) and abnormal UI levels required significantly lower LT4 doses (≤20 µg/day) at three years of age. Even if they showed severe hypothyroidism initially, they did not need subsequent dose increments. Conclusions Abnormal UI levels with Tg elevation were associated with lower LT4 dose requirements. The evaluation of iodine status and Tg concentrations were considered useful in patients suspected of CH.

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Newborn screening for congenital hypothyroidism: A local perspective from Himachal Pradesh, India

Thyroid Research and Practice ◽

10.4103/trp.trp_70_20 ◽

2021 ◽

Vol 0 (0) ◽

pp. 0

Author(s):

Mangla Sood ◽

Vinay Gupta ◽

Ashwani Sood

Keyword(s):

Newborn Screening ◽

Congenital Hypothyroidism ◽

Himachal Pradesh ◽

Local Perspective

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Newborn Screening for Congenital Hypothyroidism: Recommended Guidelines

PEDIATRICS ◽

10.1542/peds.91.6.1203 ◽

1993 ◽

Vol 91 (6) ◽

pp. 1203-1209

Author(s):

Keyword(s):

Thyroid Hormone ◽

Newborn Screening ◽

Congenital Hypothyroidism ◽

Placental Transfer ◽

Fetal Brain ◽

Iodothyronine Deiodinase ◽

Screening Programs ◽

Organ Systems ◽

Fetal Hypothyroidism ◽

Maternal Thyroid

Congenital hypothyroidism (CH) represents one of the most common preventable causes of mental retardation. The fetal hypothalamic-pituitary-thyroid axis begins to function by midgestation and is mature in the term infant at delivery. If fetal hypothyroidism develops, untoward effects may be demonstrated in certain organ systems, including the central nervous system and skeleton. However, most infants with CH appear normal at birth. Recent data suggest that the hypothyroid fetus is protected to a certain extent by placental transfer of maternal thyroid hormone; serum thyroxine (T4) levels in the cord blood of athyroid fetuses approximate one third of maternal levels.1 In addition, studies in animal models of hypothyroidism demonstrate increased levels of brain iodothyronine deiodinase, the enzyme which converts T4 to triiodothyronine (T3). In the hypothyroid fetus, this increased enzyme acting on T4 of maternal origin is sufficient to produce near normal fetal brain T3 concentrations.2 Thus, it appears that early detection and treatment of congenital hypothyroidism should have the potential to completely reverse the effects of fetal hypothyroidism in all but the most severe cases, for example, athyreotic infants born to mothers with thyroid problems resulting in inadequate placental transfer of maternal thyroid hormone. Since the development of pilot screening programs for CH in Quebec and Pittsburgh in 1974,3 newborn screening for CH has become routine in essentially all developed countries of the world and is under development in Eastern Europe, South America, Asia, and Africa. In North America it is estimated that more than 5 million newborns are screened, with approximately 1400 infants with congenital hypothyroidism detected annually.

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