scholarly journals Neonatal Screening for Congenital Hypothyroidism with Focus on Developing an Indian Screening Programme

2016 ◽  
Vol 12 (2) ◽  
pp. 99
Author(s):  
Jubbin Jagan Jacob ◽  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Resource Constraints ◽  
Screening Programme ◽  
Standard Of Care ◽  
Neurological Impairment ◽  
Current Understanding ◽  
Hormone Deficiency ◽  
Levothyroxine Replacement ◽  
Long Term Follow Up

Neonatal screening for congenital hypothyroidism, along with eradication of iodine deficiency in large parts of the world, has made it possible to prevent the development of permanent neurological impairment due to thyroid hormone deficiency in the developing brain. The first successful screening programme was demonstrated in Canada in 1973 and since then it has been standard of care in most developed societies. In India there is no national programme for neonatal screening, and screening is only done in selected larger hospitals on newborns whose parents fund it. This review summarises the current understanding of the various strategies for newborn screening that could potentially be employed in India with resource constraints. Once a case is detected, the further evaluation and determination of etiology is summarised. Treatment and long term follow-up with levothyroxine replacement is also described in detail as per current understanding.

scholarly journals CONGENITAL HYPOTHYROIDISM

2016 ◽  
pp. 95-98
Author(s):  
N. V. Nikolayenko
Keyword(s):  
Mental Retardation ◽  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Early Stage ◽  
Hormone Deficiency ◽  
Endocrine Disorder ◽  
Screening Programs ◽  
Adequate Therapy

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder whose incidence in newborns is 1:2,000 to 1:4,000. It is the leading cause of mental retardation. Neonatal Screening Programs make it possible to identify the disease at an early stage and to start the adequate therapy of the children, thanks to which it is possible to avoid complications related to the hormone deficiency.

Forty eight cases of primary congenital hypothyroidism diagnosed with the neonatal screening programme

1983 ◽  
Vol 104 (3_Supplc) ◽  
pp. S21-S22 ◽  
Author(s):  
S. Pantelakis ◽  
I. Lambadaridis ◽  
Ch. Mengreli
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Screening Programme

scholarly journals Surveillance of transient congenital hypothyroidism using the French newborn screening programme

2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
Y Barry ◽  
L Mandereau-Bruno ◽  
C Bonaldi ◽  
I Guseva-Canu ◽  
D Delmas ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Screening Programme ◽  
Screening Program ◽  
Cox Model ◽  
Multivariable Analysis ◽  
Hormone Deficiency ◽  
Newborn Screening Programme ◽  
History Of ◽  
Transient Congenital Hypothyroidism

Abstract Introduction Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth. Untreated CH results in severe mental impairment. An increased incidence of CH has been reported in France and worldwide that could be explained by an increase in transient forms of CH (TCH). We aimed to estimate the proportion of transient eutopic gland based on the characteristics of children at birth. Methods A probabilistic matching data from French CH neonatal screening program and French national health data system (SNDS) of children born between 2006 and 2012 (1, 763 with CH) allowed to linking 484 (68.8%) among 703 children with eutopic gland. Infants with six months or greater discontinuation of levothyroxine (LT4) treatment before the 31th December 2017 were classified transient CH. We used the Cox model to examine the predictors of TCH. Results Among infants with eutopic gland, 52.9% were female, 14.9% were preterm and 14, 1 % had low birth weight, 11.8 % had a first degree family history of thyroid diseases, 48.1% of mild CH (TSH<50mU/L) at diagnosis and 30,0μg/j median dose of LT4 treatment. The probability of transient CH at five years of follow-up was 25.3% [IC95%:21.6% -29.4%] and 36.7% [31.7% -42.2%] after ten years. In a cox multivariable analysis, neonates with a TSH<50mU/L (adjusted Hazard Ratio=4.1 [2.8-6.2]) and preterm 1.9 [1.1-3.4] had more risk to be transient. Conclusions Prematurity and TSH level were predictors of transient CH. Additional analyses are ongoing to determine whether the occurrence of transient forms of TCH is increasing over the study period. Key messages Transient congenital hypothyroidism represent a significant part of HC at 10 years of follow-up. This finding has important implication on medical practices and should trigger research on the etiology of these transient forms.

scholarly journals Neonatal Detection of Congenital Hypothyroidism of Central Origin

2005 ◽  
Vol 90 (6) ◽  
pp. 3350-3359 ◽  
Author(s):  
David A. van Tijn ◽  
Jan J. M. de Vijlder ◽  
Bernard Verbeeten ◽  
Paul H. Verkerk ◽  
Thomas Vulsma
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Resonance Imaging ◽  
Pituitary Hormone Deficiency ◽  
Screening Programs ◽  
Central Origin

Due to the high frequency of concurrent pituitary hormone deficiencies, congenital hypothyroidism (CH) of central origin (CH-C) is a life-threatening disorder. Yet only a minority of these patients are detected by neonatal CH screening programs worldwide. We conducted a prospective multicenter study involving a 2-yr cohort of neonatally diagnosed CH-C patients to determine whether a T4-TSH-based neonatal CH screening protocol extended with T4 binding globulin determinations improves early detection of CH-C and to assess the extent of pituitary hormone deficiency among the identified CH-C patients. In all infants with screening results indicative of CH-C, the functional integrity of the hypothalamo-hypophyseal system was investigated by dynamic tests; the anatomical integrity was investigated by magnetic resonance imaging. Initial test results were evaluated after 5 yr of follow-up. Among 385,000 infants screened over the 2-yr period, 19 cases of permanent CH-C were detected (prevalence, 1:20,263; 95% confidence interval, 1:12,976 to 1:33,654), representing 13.5% of all detected cases of permanent CH. The majority (78%) had multiple pituitary hormone deficiency, whereas 53% had pituitary malformations on magnetic resonance imaging. We conclude that infants with CH-C can very well be detected by neonatal screening. The estimated prevalence and the severity of pituitary dysfunction of this treatable disorder call for explicit attention for this entity of CH in neonatal screening programs worldwide.

The implementation of revised guidelines and the performance of a screening programme for congenital Hypothyroidism

2008 ◽  
Vol 15 (1) ◽  
pp. 5-8 ◽  
Author(s):  
M Korada ◽  
M Kibirige ◽  
S Turner ◽  
J Day ◽  
H Johnstone ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Professional Training ◽  
Screening Programme ◽  
Sample Collection ◽  
Screening Process ◽  
Screening Guidelines ◽  
North East ◽  
Health Professional Training ◽  
Mean Time

Objectives To see whether revised screening standards and health-professional training are associated with changes in the performance of a neonatal screening programme for congenital hypothyroidism (CHT). Methods Screening data from the regional screening service in Durham and Newcastle, which covers north-east England and North Cumbria. Setting We assessed the timing of the different stages of the screening process leading up to the introduction of the revised guidelines between April 2004 and March 2005 (year 1) and afterwards between April 2005 and March 2006 (year 2) in all babies notified as having CHT. We also assessed the interval between sampling and specimen arrival in the laboratory at the beginning and end of year 2 in all babies screened. Results Twenty-three babies tested positive or borderline in year 1 and 18 babies in year 2. There was reduced variability in the overall time from birth to notification in year 2 versus year 1 ( P = 0.001). This reduction was a consequence of a reduced interval between sample collection and arrival in the laboratory ( P = 0.047) and for the laboratory to notify the positive test result ( P = 0.003). There was a reduction in the mean time from sampling to receipt by the laboratory in the 2997 babies screened in the final month compared with the 2498 babies screened in the first month of year 2 ( P = 0.01). Conclusion There was an improvement in neonatal screening programme performance around the time that revised neonatal screening guidelines were introduced. This highlights the importance of ongoing education and training for those involved in screening programmes.

Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil

2020 ◽  
Vol 33 (11) ◽  
pp. 1449-1455
Author(s):  
Suzana Nesi-França ◽  
Rodrigo B. Silveira ◽  
Juliana Cristina R. Rojas Ramos ◽  
Adriane A. Cardoso-Demartini ◽  
Monica N. Lima Cat ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Adult Height ◽  
Screening Program ◽  
Pubertal Development ◽  
Z Score ◽  
Normal Range ◽  
Adequate Treatment ◽  
Increased Risk ◽  
Puberty Onset

AbstractObjectivesAdequate treatment of congenital hypothyroidism (CH) is required for normal growth and sexual development. To evaluate pubertal development in patients with permanent CH detected by a statewide Neonatal Screening Program of Paraná and, secondly, to evaluate adult height (AH) in a subgroup of patients.MethodsClinical, laboratory, and auxological data obtained from medical records of 174 patients (123 girls).ResultsMedian chronological age (CA) at treatment initiation was 24 days, and mean initial levothyroxine dose was 11.7 ± 1.9 μg/kg/day; mean CA at puberty onset was 11.5 ± 1.3 years (boys) and 9.7 ± 1.2 years (girls); mean CA in girls who underwent menarche (n=81) was 12.1 ± 1.1 years. Thyroid-stimulating hormone (TSH) values above the normal range were observed in 36.4% of the boys and 32.7% of the girls on puberty onset, and in 44.6% around menarche. Among 15 boys and 66 girls who had reached the AH, the median height z-score value was significantly greater than the target height (TH) z-score value in boys (p=0.01) and in girls (p<0.001). Boys with normal TSH values at puberty onset had greater mean AH z-score compared with boys with TSH values above the normal range (p=0.04).ConclusionsIn this group, pubertal development in girls with CH was not different from that reported in healthy girls in the general Brazilian population. Boys with higher TSH at puberty onset may have an increased risk of not reaching their potential height compared with those with normal TSH during this period. In a subgroup who attained AH, the median AH z-score was greater than the median TH z-score.

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