73 EUROPEAN COLLABORATIVE STUDY ON MENTAL DEVELOPMENT IN CHILDREN WITH CONGENITAL HYPOTHYROIDISM (CH) DIAGNOSED BY NEONATAL THYROID SCREENING

The screening of newborn babies for congenital hypothyroidism has changed the natural history of this abnormality. We describe here a case of a female patient with congenital hypothyroidism that was missed by primary neonatal thyroid screening (using thyroid-stimulating hormone) at two days of age; it was detected only after the development and persistence of jaundice during the first three weeks of life. A normal neonatal screening result does not preclude the development of hypothyroidism later in infancy. Clinical vigilance must be maintained by practitioners. A second screening between two and six weeks of age may be useful in order to detect the few cases missed at first screening.

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Clinical presentation of primary congenital hypothyroidism: experience before mass screening

Bosnian Journal of Basic Medical Sciences ◽

10.17305/bjbms.2005.3226 ◽

2005 ◽

Vol 5 (4) ◽

pp. 26-29 ◽

Cited By ~ 2

Author(s):

Husref Tahirović ◽

Alma Toromanović

Keyword(s):

Congenital Hypothyroidism ◽

Screening Program ◽

Thyroid Tissue ◽

Thyroid Function Tests ◽

Thyroid Screening ◽

Clinical Center ◽

Age Of Diagnosis ◽

Study Population ◽

The Difference ◽

Neonatal Thyroid Screening

Primary congenital hypothyroidism is a common preventable cause of mental retardation. Neonatal thyroid screening is highly successful in early diagnosis and the improvement of developmental prognosis in the hypothyroid neonate. However, rarely cases could be missed, so doctors must be aware of the earl symptoms and signs of hypothyroidism. Therefore, the purpose of this study was to emphasize the presenting clinical features of primary congenital hypothyroidism at the age of diagnosis. The study population included 17 children with primary congenital hypothyroidism who attended the Department of Pediatrics, University Clinical Center Tuzla between 1986 and 1999. The diagnosis of all patients was confirmed by serum thyroid function tests (T4 and TSH). Of the 17 patients 10 (58.8%) were diagnosed in the first three months of life and 3 of them (17.6%) between fourth and sixth month of life. Four children (23.5%) were diagnosed after the age of six months. In the first three months of life hypothermia, constipation, jaundice, poor feeding, hoarse cry, macroglossia and hypoactivity were the moste common symptoms. Among the 17 patients with primary congenital hypothyroidism 5 of them (29.4 %) were diagnosed to have disgenetic thyroid tissue and 12 (70.6%) as having dyshormonogenesis. TSH and T4 levels were higher in patients in whom thyroid tissue was dysgenetic as comapared with those with dyshormonogenesis but the difference was not statistically significant (p > 0.05). Now it is expected that neonatal screening program in Bosnia and Herzegovina Federation will contribute to the detection of primary congenital hypothyroidism in early days of life. However, until an effective screening test is not yet routine in whole country, paediatricians should consider the diagnosis of hypothyroidism whenever it is clinically suggested.

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Neonatal thyroid screening a tertiary care experience at VSS Medical College and Hospital, Burla

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20210113 ◽

2021 ◽

Vol 8 (2) ◽

pp. 280

Author(s):

Vidhyadhara Naik T. L. ◽

Bineet Panigrahi ◽

Sanjukta Panda

Keyword(s):

Mental Retardation ◽

Congenital Hypothyroidism ◽

Tertiary Care ◽

Recall Rate ◽

Confirmatory Test ◽

Neonatal Hypothyroidism ◽

Care Experience ◽

Thyroid Screening ◽

Neonatal Thyroid Screening ◽

Serum Tsh

Background: Congenital hypothyroidism is one of the most common preventable etiologies of mental retardation. The worldwide incidence of CH ranges from 1 in 3000 to 1 in 4000 live newborn. Objective of the study was to know the incidence of congenital hypothyroidism in this part of the country, which is necessary to understand the burden of congenital hypothyroidism to the society.Methods: Primary serum TSH measurement in screening neonates with backup thyroxine (T4) determination in infants with high TSH levels (>20 mIU/l). TSH and FT4 were estimated by chemi luminescence immunoassay (CLIA) method using reagent monobind, INC.Results: Serum TSH of screened neonates ranged between 0.16 mIU/l and 80.32 mIU/l, Mean±SD of sTSH being 5.80±3.96 mIU/l. Out of 2212 screened newborns, 9 newborns had sTSH value >20 mIU/l, who were recalled for confirmatory test, giving a recall rate of 0.4%. Out of 9 recalled newborns, 3 had persistently elevated sTSH >20 mIU/l making incidence of congenital hypothyroidism of 1:737 in our study.Conclusions: We found a higher incidence of 1:737 neonatal hypothyroidism in this region as compared to estimated national incidence. CH being preventable cause of mental retardation and other harmful effects on a growing newborn, neonatal screening programme for congenital hypothyroidism is highly recommended.

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High Incidence of Congenital Hypothyroidism in One Region of the Republic of Macedonia

Balkan Journal of Medical Genetics ◽

10.2478/bjmg-2014-0024 ◽

2014 ◽

Vol 17 (1) ◽

pp. 31-35 ◽

Cited By ~ 1

Author(s):

V. Anastasovska ◽

Koviloska R. ◽

Kocova M.

Keyword(s):

Congenital Hypothyroidism ◽

Screening Program ◽

Thyroid Stimulating Hormone ◽

Republic Of Macedonia ◽

Thyroid Screening ◽

Significant Difference ◽

High Incidence ◽

Screening Coverage ◽

The Republic ◽

Neonatal Thyroid Screening

Abstract Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation in children. Diagnosis is difficult at birth without neonatal screening. Neonatal thyroid screening was established in Prilep, Republic of Macedonia as an integral part of the nationwide screening program. To estimate the prevalence of CH in this region, neonatal thyroid screening was performed on 9757 newborns, during the period 2002-2011. The DELFIA method was applied to measure the thyroid-stimulating hormone (TSH) concentration in dried blood spot samples on standard filter paper taken 48 hours after birth by heel-stick. The TSH cut-off level was 10 mU/L. The neonatal thyroid screening coverage was 93.4%. Eight newborns with CH were detected, with an incidence of 1:1220 live births, significantly higher compared to the nationwide results 1:2602. The TSH level was not significantly dependent on the gender of the newborn. There was a statistically significant difference between the TSH level and the timing of newborn screening sampling (p <0.05) and between the TSH level and the newborn birth weight (p = 0.01). One point ninety-two percent of newborns with TSH levels above 5 mU/L indicated an iodine sufficiency in Prilep. The incidence of CH in Prilep, which is higher when compared with that reported in surrounding countries, might be a consequence of the higher percentage of the Romany population in this region. Further analysis of this population in other regions is warranted.

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