Screening for congenital hypothyroidism in the Republic of Ireland.

Dockeray, S; Cahalane, S. F.; Brody, Marion; Mullins, Chelsea; Cullen, Michael J.

doi:10.1136/bmj.281.6254.1519

Cited by 14 publications

(3 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The prevalence we found was closer to that found in China (1/5450), 3 Hungary (1/5470), 4 Moravia and Bohemia (1/5059; 1/5700) 5 and Slovakia (1/6874). 6 It was lower than the prevalence in Pakistan (1/1000), 7 North America (1/4254), 8 Switzerland (1/3000), 9 Kuwait (1/3476), 10 Ireland (1/4012) 11 and higher than the prevalence in Denmark (1/6064) 12 and Sweden (1/6900). 13 The prevalence of dyshormonogenesis we found was 1/7592 births.…”

Section: Discussionmentioning

confidence: 92%

Congenital Hypothyroidism Screening Program: A Five-Year Experience at Saudi Aramco Al Hasa Health Center

Narchi

Kulaylat²

1996

Ann Saudi Med

View full text Add to dashboard Cite

We report the results of a five-year study of cord blood screening for congenital hypothyroidism in a genetically homogeneous population in the Eastern Province of Saudi Arabia. The prevalence of congenital hypothyroidism was 1/5061 and is compared to other reports. The prevalence of dyshormonogenesis was 1/7592, higher than in other reports. Ann Saudi Med 1996;16(1):47-49. HH Narchi, NA Kulaylat, Congenital Hypothyroidism Screening Program: A Five-Year Experience at Saudi Aramco Al Hasa Health Center. 1996; 16(1): 47-49 Detection of congenital hypothyroidism by neonatal screening programs has been extensively studied in developed countries. Its prevalence shows marked geographical and racial variations. We report our experience over a five-year period in the neonatal screening program for hypothyroidism, undertaken at Saudi Aramco Al Hasa Health Center between 1988 and 1992. Material and MethodsAll infants born at Saudi Aramco Al Hasa Health Center between January 1988 and the end of December 1992 were screened for congenital hypothyroidism. Our facility provides medical care for family members of Saudi Arab Aramco employees living in the Al Hasa area of the Eastern Province of Saudi Arabia. This population is genetically homogeneous and the prevalence of diseases can readily be compared with any other population.Cord blood samples were collected from the placental side at birth and were assayed for thyroxine (T4) levels by Fluorescent Polarization Immunoassay (Abbott Laboratories, Illinois, USA). For infants born outside our facility, the test was carried out on blood spot on filter paper simultaneously with PKU testing at their first visit to our facility, usually within a few days of birth. Cord blood T 4 values below 6.0 μg/dL (>2 SD below the mean for this population) were considered abnormal and cord blood thyrotropin (TSH) was measured by Microparticle Enzyme Immunoassay (Abbott Laboratories, Illinois, USA) on the same blood sample. All infants with low T 4 levels were called for clinical evaluation and had a repeat venous blood T 4 , TSH and free T 4 estimation. The lower limits (>2 SD) of repeat serum levels were defined as T 4 6.1 μg/dL, TSH 7.5 μU/mL and free T 4 0.78 ng/dL. Infants with low T 4 and high TSH were considered to have primary hypothyroidism, those with low T 4 and low TSH were considered to have secondary or tertiary hypothyroidism, while those with low T 4 accompanied with normal TSH (and normal free T 4 ) were considered to have thyroxine-binding globulin (TBG) deficiency, either congenital or acquired.The infants with confirmed hypothyroidism were started on treatment, then referred to a pediatric endocrinologist. A T 3 withdrawal test and technetium-99m pertechnetate thyroid scintigraphy are carried out after the age of three years to confirm the persistence and type of hypothyroidism. ResultsBetween January 1988 and December 1992, a total of 15,185 Saudi Arab neonates were screened for congenital hypothyroidism. A total of 363 infants had initial low T 4 values (2.39% of all ...

show abstract

Section: Discussionmentioning

confidence: 92%

Congenital Hypothyroidism Screening Program: A Five-Year Experience at Saudi Aramco Al Hasa Health Center

Narchi

Kulaylat²

1996

Ann Saudi Med

View full text Add to dashboard Cite

show abstract

“…Congenital hypothyroidism (CHT) affects approximately 1 in 2,000-4,000 births and is a cause of preventable neurodevelopmental disability [1][2][3][4][5][6]. Newborn screening programs have increased the rate of early detection of this condition and almost eradicated this complication of disease [7].…”

Section: Introductionmentioning

confidence: 99%

Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism

et al. 2021

View full text Add to dashboard Cite

Scintigraphy using technetium-99m (99mTc) is the gold standard for imaging the thyroid gland in infants with congenital hypothyroidism (CHT) and is the most reliable method of diagnosing an ectopic thyroid gland. One of the limitations of scintigraphy is the possibility that no uptake is detected despite the presence of thyroid tissue, leading to the spurious diagnosis of athyreosis. Thyroid ultrasound is a useful adjunct to detect thyroid tissue in the absence of 99mTc uptake. Aims: We aimed to describe the incidence of sonographically detectable in situ thyroid glands in infants scintigraphically diagnosed with athyreosis using 99mTc and to describe the clinical characteristics and natural history in these infants. Methods: The newborn screening records of all infants diagnosed with CHT between 2007 and 2016 were reviewed. Those diagnosed with CHT and athyreosis confirmed on scintigraphy were invited to attend a thyroid ultrasound. Results: Of the 488 infants diagnosed with CHT during the study period, 18/73 (24.6%) infants with absent uptake on scintigraphy had thyroid tissue visualised on ultrasound (3 hypoplastic thyroid glands and 15 eutopic glands). The median serum thyroid-stimulating hormone (TSH) concentration at diagnosis was significantly lower than that in infants with confirmed athyreosis (no gland on ultrasound and no uptake on scintigraphy) (74 vs. 270 mU/L), and median free T4 concentration at diagnosis was higher (11.9 vs. 3.9 pmol/L). Six of 10 (60%) infants with no uptake on scintigraphy but a eutopic gland on ultrasound had transient CHT. Conclusion: Absent uptake on scintigraphy in infants with CHT does not rule out a eutopic gland, especially in infants with less elevated TSH concentrations. Clinically, adding thyroid ultrasound to the diagnostic evaluation of infants who have athyreosis on scintigraphy may avoid committing some infants with presumed athyreosis to lifelong levothyroxine treatment.

show abstract

“…Exceptions to this, e.g. Dockeray 18 and Corbetta 20 , may be related to differences in screening procedures. Using the information provided within most papers, it is difficult to estimate the impact of having a borderline cut-off level on the frequency of repeat testing.…”

Section: Figure 2: Overview Of Screening Procedures Most Commonly Desmentioning

confidence: 99%

Initial Clinical Referral Standards after Newborn Screening for Congenital Hypothyroidism: Final Report of the UK Newborn Screening Programme Centre Expert Working Group and Systematic Evidence Review 2010-2011

View full text Add to dashboard Cite

Screening for congenital hypothyroidism in the Republic of Ireland.

Cited by 14 publications

References 6 publications

Congenital Hypothyroidism Screening Program: A Five-Year Experience at Saudi Aramco Al Hasa Health Center

Congenital Hypothyroidism Screening Program: A Five-Year Experience at Saudi Aramco Al Hasa Health Center

Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism

Initial Clinical Referral Standards after Newborn Screening for Congenital Hypothyroidism: Final Report of the UK Newborn Screening Programme Centre Expert Working Group and Systematic Evidence Review 2010-2011

Contact Info

Product

Resources

About