Audit of neonatal screening programme for phenylketonuria and congenital hypothyroidism

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.

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

Acta Endocrinologica ◽

10.1530/acta.0.104s021 ◽

1983 ◽

Vol 104 (3_Supplc) ◽

pp. S21-S22 ◽

Cited By ~ 1

Author(s):

S. Pantelakis ◽

I. Lambadaridis ◽

Ch. Mengreli

Keyword(s):

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Screening Programme

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Prepubertal and pubertal growth, timing and duration of puberty and attained adult height in patients with congenital hypothyroidism (CH) detected by the neonatal screening programme for CH - a longitudinal study

Clinical Endocrinology ◽

10.1046/j.1365-2265.1997.3181148.x ◽

1997 ◽

Vol 47 (6) ◽

pp. 649-654 ◽

Cited By ~ 35

Author(s):

Zvi Dickerman ◽

Liat De Vries

Keyword(s):

Longitudinal Study ◽

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Adult Height ◽

Screening Programme ◽

Pubertal Growth

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

Journal of Medical Screening ◽

10.1258/jms.2008.007080 ◽

2008 ◽

Vol 15 (1) ◽

pp. 5-8 ◽

Cited By ~ 5

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.

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INCIDENCE OF CONGENITAL HYPOTHYROIDISM. A RETROSPECTIVE STUDY COMPARING NEONATAL SCREENING AND CLINICAL DIAGNOSIS.

Acta Endocrinologica ◽

10.1530/acta.0.103s058 ◽

1983 ◽

Vol 104 (2_Supplb) ◽

pp. S58-S61

Author(s):

A Larsson ◽

L Haganfeldt ◽

J Aim ◽

K Lundberg

Keyword(s):

Retrospective Study ◽

Clinical Diagnosis ◽

Congenital Hypothyroidism ◽

Neonatal Screening

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

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2020-0285 ◽

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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