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Updated: Oct 30, 2025
Biochemical Measurement of Neonatal Hypoxia
Published on: August 24, 2011
First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia
Altantuya Tsevgee1, Khishigjargal Batjargal1,2, Tsolmon Munkhchuluun3
1Department of Pediatrics, School of Medicine, Mongolian National University of Medical Sciences, Ulaanbaatar 14210, Mongolia.
Insights
Newborn screening for congenital hypothyroidism (CH) in Ulaanbaatar detected a prevalence of 1/2091. Early L-thyroxine treatment was initiated within 30 days for all diagnosed CH cases.
Area of Science:
- Endocrinology
- Pediatrics
- Public Health
Background:
- Congenital hypothyroidism (CH) is a leading preventable cause of intellectual disability.
- Newborn screening (NBS) programs are crucial for early CH detection and intervention.
- Mongolia established a regional CH screening program in 2000 with international support.
Purpose of the Study:
- To determine the prevalence and etiological factors of CH in Ulaanbaatar newborns.
- To evaluate the timeliness of L-thyroxine treatment initiation in CH-positive infants.
- To highlight the importance of expanding CH screening coverage in Mongolia.
Main Methods:
- Screened 23,002 newborns in Ulaanbaatar between 2012 and 2020.
- Measured thyroid-stimulating hormone (TSH) levels from dried blood spots using the DELFIA assay.
- Confirmed CH cases and analyzed etiological factors and treatment initiation times.
Main Results:
- Overall CH prevalence was 1/2091, with a female-to-male ratio of 1.8:1.
- Thyroid dysgenesis was the primary cause (81.8%).
- 63.64% of CH cases received L-thyroxine treatment within 15 days of birth.
Conclusions:
- Newborn screening effectively identifies CH in Ulaanbaatar.
- Prompt treatment initiation is feasible and essential for preventing intellectual disability.
- Expanding screening coverage is necessary for broader public health impact in Mongolia.
Abstract:
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.
