Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey

Abstract Background: Congenital hypothyroidism (CH) is a common cause of mental retardation; it has a worldwide incidence ranging from 1:3000 to 1:4500 live births. Predictably, an increase in the reported incidence of primary CH occurs when the cut-off levels of thyroid-stimulating hormone are lowered. We aimed to evaluate the results of a congenital hypothyroidism screening program and current status in this study. Methods: Analysis results of 1300 infants who were referred to the endocrinology polyclinic because of suspected CH within the scope of the Ministry of Health National Neonatal Screening Program were retrospectively evaluated. Results: The diagnosis of CH and initiation of treatment were both done in 223 (18.5%) and 10 (0.8%) infants as a result of the initial evaluation and follow-up, respectively. The mean capillary and venous thyroid-stimulating hormone (TSH) levels of 223 patients were 40.78 (5.5–100) μIU/mL and 67.26 (10.7–100) μIU/mL, respectively. These patients’ mean heel prick time was 8.65 (0–30, median: 7) days. The mean age of the 223 infants whose treatment was initiated as a result of the initial evaluation was 19.87 (4–51, median: 20) days, and the mean age of the infants whose treatment was started at follow-up was 43.71 (29–65) days. The duration between heel prick time and venous TSH time was 11.10 (2–28, median: 11) days and was longer than planned (3–5 days). Conclusions: Although the duration for the diagnosis and initiation of CH treatment were markedly reduced with the implementation of the screening program in Turkey compared to those before the implementation of the screening program, we have not yet achieved the ideal time (≤14 days).

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Neonatal Screening Program of Congenital Hypothyroidism: How Can We (Still) Improve?

10.21203/rs.3.rs-689419/v1 ◽

2021 ◽

Author(s):

Maria José Costeira ◽

Andreia Martins ◽

Raquel Reis ◽

Laura Vilarinho ◽

Joana Palha

Keyword(s):

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Very Low Birth Weight ◽

Screening Program ◽

Great Majority ◽

Thyroid Stimulating Hormone ◽

Pituitary Thyroid Axis ◽

Neonatal Screening Program ◽

Universal Procedure ◽

Special Circumstances

Abstract Background: Congenital hypothyroidism (CH) has severe and irreversible neurological consequences for the child if treatment is not readily initiated, which justifies fast diagnosis. Screening of CH is a universal procedure well established in Portugal. It is based on measuring the pituitary thyroid stimulating hormone. The physiology of maturation of the pituitary-thyroid axis is incomplete at delivery in preterm and very-low birth weight babies (VLBW), which raises concerns with respect to the standard timing of CH diagnosis.The Portuguese Neonatal Screening Program recommends testing preterm/VLBW babies at three time points. The purpose of this study was to assess compliance of these guidelines.Methods: Questionnaires were sent to neonatal care units (NCU) and to general practitioner community health units in two time periods.Results: All NCU have written guidelines and the great majority follows the recommendations. Few NCU still postpone the first collection for newborns with protein intake restrictions, some retest new-borns in special circumstances, and a great number still use iodine disinfectants.Conclusions: This study shows that performing the metabolic screening is a well standardized procedure that can still be improved: not delaying the first collection, retesting sick and medicated babies, and avoiding iodine disinfectants.

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Alphafetoprotein in screening for congenital hypothyroidism

Eastern Mediterranean Health Journal ◽

10.26719/2001.7.1-2.171 ◽

2001 ◽

Vol 7 (1-2) ◽

pp. 171-180

Author(s):

R. M. Shawky ◽

S. Abdel Fattah ◽

M. E. El Din Azzam ◽

M. M. Rafik ◽

A. Osman

Keyword(s):

Congenital Hypothyroidism ◽

Older Patients ◽

Thyroid Stimulating Hormone ◽

The Other ◽

Thyroid Status ◽

Term Neonates ◽

Significant Relationships ◽

The Mean ◽

Persistent Elevation

This study was conducted on 500 full-term neonates and 25 older patients with congenital hypothyroidism [CH], newly or previously diagnosed. Alphafetoprotein [AFP] was elevated in two neonates. In one, persistent elevation of AFP and thyroid stimulating hormone [TSH] with low thyroxine [T4] were found [congenital hypothyroidism]. In the other, AFP, TSH and T4 levels normalized [transient hypothyroidism]. The mean AFP level in new CH patients was significantly higher than in previously diagnosed patients, and was higher in CH patients than in controls. Significant relationships were found between AFP and T4, AFP and TSH, and AFP and age. AFP is a sensitive indicator of thyroid status and can be used as a screening test for hypothyroidism from the first day of life and in follow-up of CH patients.

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Clinical Effectiveness and Cost-Effectiveness of the Use of the Thyroxine/Thyroxine-Binding Globulin Ratio to Detect Congenital Hypothyroidism of Thyroidal and Central Origin in a Neonatal Screening Program

PEDIATRICS ◽

10.1542/peds.2004-2162 ◽

2005 ◽

Vol 116 (1) ◽

pp. 168-173 ◽

Cited By ~ 53

Author(s):

C. I. Lanting

Keyword(s):

Cost Effectiveness ◽

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Screening Program ◽

Clinical Effectiveness ◽

Thyroxine Binding Globulin ◽

Central Origin ◽

Neonatal Screening Program

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Congenital Hypothyroidism in the Southern Bangladesh

TAJ Journal of Teachers Association ◽

10.3329/taj.v21i1.3212 ◽

1970 ◽

Vol 21 (1) ◽

pp. 18-22 ◽

Cited By ~ 1

Author(s):

C Habibur Rasul ◽

S Nahar Lucky ◽

S Rahman Miah ◽

F Moslem

Keyword(s):

Birth Weight ◽

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Screening Program ◽

National Level ◽

Retarded Child ◽

Thyroid Function Test ◽

Cord Blood Sample ◽

College Hospital ◽

Neonatal Screening Program

Congenital hypothyroidism is the commonest preventable cause of mental retardation. It is more prevalent in endemic goiter regions like Bangladesh. But magnitude of the problem has not been studied at national level. This study was done to detect the frequency of congenital hypothyroidism in southem part of Bangladesh & to develop neonatal screening program. All the living newborns delivered between Oct 01 to June 05 Khulna Medical College Hospital were included in the study, After taking the relevant information from mother, cord blood sample were collected from the newborn within 120 hours of birth and kept in freezer. At the end of collection of each two months, the lot was sent to the laboratory of Institute of Nuclear Medicine, Dhaka for radioimmunoassay of TSH. Potential cases with TSH above 10 MIU were recalled for thyroid function test for confirmation of diagnosis. Fifteen hundred samples were collected in total during 45 months of study. One forty seven unsatisfactory samples were discarded; thereby 1353 samples were eventually assayed for TSH. Among the study population 88.2% hailed from Khulna district and the rest of the cases came from neighboring districts. Male to female baby ratio was 1.2:1. Regarding the birth weight 33.4% babies were low birth weight. TSH above 10 was found in 35 babies among whom one baby was hypothyroid and the other member of the twin was also hypothyroid although the TSH level was below 10. None of newborn had TSH level above 20. Thus frequency of congenital hypothyroidism was 1.5 per thousand living newborn. Congenital hypothyroidism in southern part of the country is quite high in relation to global incidence. Although this is not the national picture but the high figure is alarming. Therefore neonatal screening program should be implemented as soon as possible to reduce the number of mentally retarded child. doi: 10.3329/taj.v21i1.3212 TAJ 2008; 21(1): 18-22

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Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection

Hormone Research in Paediatrics ◽

10.1159/000480293 ◽

2017 ◽

Vol 88 (3-4) ◽

pp. 274-280 ◽

Cited By ~ 7

Author(s):

Débora Braslavsky ◽

Maria Virginia Méndez ◽

Laura Prieto ◽

Ana Keselman ◽

Rosa Enacan ◽

...

Keyword(s):

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Screening Program ◽

Recall Rate ◽

Free T4 ◽

Screening Programs ◽

Screening Study ◽

Term Newborns ◽

Neonatal Screening Program ◽

Congenital Hypopituitarism

Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. Patients and Methods: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2–7 days. Those with T4 ≤4.5 µg/dL (–2.3 SDS) and TSH <10 mIU/L were recalled (suspicious of CCH) and underwent clinical and biochemical assessment performed by expert pediatric endocrinologists. Results: A total of 67,719 newborns were screened. Primary CH was confirmed in 24 (1: 2,821). Forty-four newborns with potential CCH were recalled (recall rate 0.07%) at a mean age of 12.6 ± 4.8 days. In this group, permanent CCH was confirmed in 3 (1: 22,573), starting L-T4 treatment at a mean age of 12.3 ± 6.6 days; 14 boys showed T4-binding globulin deficiency (1: 4,837); 24 had transient hypothyroxinemia (21 non-thyroidal illness and 3 healthy); and 3 died before the confirmation stage. According to initial free T4 measurements, CCH patients had moderate hypothyroidism. Conclusions: Adding T4 to TSH measurements enabled the identification of CCH as a prevalent condition and contributed to improving the care of newborns with congenital hypopituitarism and recognizing other thyroidal disorders.

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Descriptive Epidemiology of Missed Cases of Phenylketonuria and Congenital Hypothyroidism

PEDIATRICS ◽

10.1542/peds.78.4.553 ◽

1986 ◽

Vol 78 (4) ◽

pp. 553-558

Author(s):

Candy Holtzman ◽

William E. Slazyk ◽

José F. Cordero ◽

W. Harry Hannon

Keyword(s):

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Telephone Survey ◽

Screening Program ◽

Descriptive Epidemiology ◽

Screening Programs ◽

Specimen Collection ◽

True Number ◽

Laboratory Procedures

We conducted a structured telephone survey of state public health laboratory directors of neonatal screening programs to determine the extent of the problem of missed cases of phenylketonuria (PKU) and congenital hypothyroidism. A total of 76 missed cases were reported—43 PKU and 33 congenital hypothyroidism. We looked at the following characteristics of the missed cases: the stage at which the miss occurred, which included specimen collection, laboratory procedures, or follow-up; the size of the program; the type of screening program; the age of the infant at the time of screening; and any legal action that resulted from the miss. The 76 missed cases probably represent an underascertainment of the true number, yet we believe that our data provide an overview of some of the problems associated with mass neonatal screening. There was one missed case of PKU for every 70 cases detected, and one missed case of congenital hypothyroidism for every 120 cases detected; in other words, two congenital hypothyroidism cases were missed for every 1 million infants screened. Regarding the stage of screening in which the miss occurred, 14% occurred during specimen collection, 45% during the laboratory procedures stage, 16% during follow-up, 11% were the result of biologic variation, and in 14% the stage could not be identified. We conclude that neonatal screening programs have been highly successful but that there may be additional safeguards to be developed, tested, and implemented when practical.

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Intellectual outcome at 12 years of age in congenital hypothyroidism

Acta Endocrinologica ◽

10.1530/eje.0.1410105 ◽

1999 ◽

pp. 105-110 ◽

Cited By ~ 34

Author(s):

M Salerno ◽

R Militerni ◽

S Di Maio ◽

C Bravaccio ◽

N Gasparini ◽

...

Keyword(s):

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Treatment Compliance ◽

Control Group ◽

Old Patients ◽

Poor Treatment ◽

Intellectual Outcome ◽

The Mean ◽

Low Iq

BACKGROUND: The intellectual outcome in children with congenital hypothyroidism detected by neonatal screening is generally good; however, subtle neurological dysfunctions, subnormal IQ, or both, have been reported. OBJECTIVE: To evaluate the intellectual outcome in 12-year-old patients with congenital hypothyroidism, detected by neonatal screening, in an attempt to identify factors that may affect intellectual development. METHODS: The intelligence quotient (IQ) of 40 children with congenital hypothyroidism was evaluated at 12 years of age, using the Wechsler Intelligence Scale for Children -- Revised, and compared with the IQ of 40 healthy siblings (control group). RESULTS: The mean IQ score (88.4+/-13.1) was not significantly different from that of the control group (93.4+/-10.7). Thirteen patients showed subnormal IQ score (72.4+/-4.9) compared with their siblings (86.7+/-9.6; P<0.0001) and with the other patients (96.1+/-9.6; P<0.0001). The low IQ score was associated with lower serum concentrations of thyroxine at diagnosis, poor treatment compliance during follow-up and lower familial IQ. Interviews with parents of children with congenital hypothyroidism revealed that a refusal to acknowledge the disease was linked to poor attention to the child's emotional life and to poor treatment compliance in some cases (11%). CONCLUSION: Even though the mean IQ score in patients with congenital hypothyroidism falls within normal for the control population, low IQ scores may be present in patients with severe hypothyroidism, inadequate compliance to replacement therapy during follow-up and poor parental pedagogic attitude.

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