First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia

Congenital hypothyroidism (CH) is among the most common conditions leading to intellectual disability, which can be prevented by early detection through newborn screening (NBS). In Mongolia, a regional screening program for CH was launched in 2000, which was supported by the International Atomic Ene...

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Main Authors: Altantuya Tsevgee, Khishigjargal Batjargal, Tsolmon Munkhchuluun, Naranchimeg Khurelbaatar, Gerelmaa Nansal, Oyun-Erdene Bulgan, Sumberzul Nyamjav, Gerelmaa Zagd, Erdenetuya Ganbaatar
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:International Journal of Neonatal Screening
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Online Access:https://www.mdpi.com/2409-515X/7/2/29
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author Altantuya Tsevgee
Khishigjargal Batjargal
Tsolmon Munkhchuluun
Naranchimeg Khurelbaatar
Gerelmaa Nansal
Oyun-Erdene Bulgan
Sumberzul Nyamjav
Gerelmaa Zagd
Erdenetuya Ganbaatar
author_facet Altantuya Tsevgee
Khishigjargal Batjargal
Tsolmon Munkhchuluun
Naranchimeg Khurelbaatar
Gerelmaa Nansal
Oyun-Erdene Bulgan
Sumberzul Nyamjav
Gerelmaa Zagd
Erdenetuya Ganbaatar
author_sort Altantuya Tsevgee
collection DOAJ
description Congenital hypothyroidism (CH) is among the most common conditions leading to intellectual disability, which can be prevented by early detection through newborn screening (NBS). In Mongolia, a regional screening program for CH was launched in 2000, which was supported by the International Atomic Energy Agency (IAEA) for the Asia Pacific Region. In our present study, a total of 23,002 newborns from nine districts in Ulaanbaatar were screened between 2012 and 2020, by the measurement of the thyroid-stimulating hormone (TSH) from dried blood spots, sampled 24 to 72 h after birth. The level of TSH was measured by the DELFIA assay. The overall CH prevalence confirmed at birth was 1/2091. The female-to-male ratio for CH cases was 1.8:1. The majority of patients were asymptomatic (72.7% of CH cases); umbilical hernia and cold or mottled skin were reported symptoms in patients with CH (27.3%). Thyroid dysgenesis (hypoplasia and agenesis) was the most common etiology, with a total of nine cases (81.8%) out of the eleven patients. The lapse between the birth date and the initiation of L-thyroxine treatment in CH-positive children was lower than 15 days in 63.64% of cases or 15 to 30 days in 36.36% of children. Further research is required to expand the screening coverage for CH in Mongolia.
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spelling doaj.art-8ba655d4c9704d62a9a46a4528d06adf2023-11-21T23:02:37ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2021-06-01722910.3390/ijns7020029First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, MongoliaAltantuya Tsevgee0Khishigjargal Batjargal1Tsolmon Munkhchuluun2Naranchimeg Khurelbaatar3Gerelmaa Nansal4Oyun-Erdene Bulgan5Sumberzul Nyamjav6Gerelmaa Zagd7Erdenetuya Ganbaatar8Department of Pediatrics, School of Medicine, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, MongoliaDepartment of Pediatrics, School of Medicine, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, MongoliaDepartment of Health Promotion and Disease Prevention, National Center for Public Health, Ulaanbaatar 13381, MongoliaChildren’s Hospital, National Center for Maternal and Child Health, Bayangol District, Ulaanbaatar 16060, MongoliaChildren’s Hospital, National Center for Maternal and Child Health, Bayangol District, Ulaanbaatar 16060, MongoliaScreening Diagnostic Reference Center, Bayangol District, Ulaanbaatar 16091, MongoliaGraduate School, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, MongoliaDepartment of Pediatrics, School of Medicine, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, MongoliaDepartment of Pediatrics, School of Medicine, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, MongoliaCongenital hypothyroidism (CH) is among the most common conditions leading to intellectual disability, which can be prevented by early detection through newborn screening (NBS). In Mongolia, a regional screening program for CH was launched in 2000, which was supported by the International Atomic Energy Agency (IAEA) for the Asia Pacific Region. In our present study, a total of 23,002 newborns from nine districts in Ulaanbaatar were screened between 2012 and 2020, by the measurement of the thyroid-stimulating hormone (TSH) from dried blood spots, sampled 24 to 72 h after birth. The level of TSH was measured by the DELFIA assay. The overall CH prevalence confirmed at birth was 1/2091. The female-to-male ratio for CH cases was 1.8:1. The majority of patients were asymptomatic (72.7% of CH cases); umbilical hernia and cold or mottled skin were reported symptoms in patients with CH (27.3%). Thyroid dysgenesis (hypoplasia and agenesis) was the most common etiology, with a total of nine cases (81.8%) out of the eleven patients. The lapse between the birth date and the initiation of L-thyroxine treatment in CH-positive children was lower than 15 days in 63.64% of cases or 15 to 30 days in 36.36% of children. Further research is required to expand the screening coverage for CH in Mongolia.https://www.mdpi.com/2409-515X/7/2/29congenital hypothyroidismneonatal screeningblood spot testfilter paper
spellingShingle Altantuya Tsevgee
Khishigjargal Batjargal
Tsolmon Munkhchuluun
Naranchimeg Khurelbaatar
Gerelmaa Nansal
Oyun-Erdene Bulgan
Sumberzul Nyamjav
Gerelmaa Zagd
Erdenetuya Ganbaatar
First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia
International Journal of Neonatal Screening
congenital hypothyroidism
neonatal screening
blood spot test
filter paper
title First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia
title_full First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia
title_fullStr First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia
title_full_unstemmed First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia
title_short First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia
title_sort first experiences with newborn screening for congenital hypothyroidism in ulaanbaatar mongolia
topic congenital hypothyroidism
neonatal screening
blood spot test
filter paper
url https://www.mdpi.com/2409-515X/7/2/29
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