scholarly journals Consensus guidelines of congenital hypothyroidism by the European Society for pediatric endocrinology and the European Society for Endocrinology: key points and comments

2021 ◽  
Vol 17 (2) ◽  
pp. 4-12
Author(s):  
E. V. Shreder ◽  
T. Y. Shiryaeva ◽  
E. V. Nagaeva ◽  
O. B. Bezlepkina
Keyword(s):  
Congenital Hypothyroidism ◽  
European Society ◽  
Neonatal Screening ◽  
Clinical Problem ◽  
Consensus Guidelines ◽  
Pediatric Endocrinology ◽  
Pediatric Practice ◽  
Key Points ◽  
Screening Diagnostics

Congenital hypothyroidism is an actual clinical problem in pediatric practice. Previous clinical guidelines were published in 2014. The presented clinical recommendations are based on articles published from January 2013 to early 2020. The consensus guidelines include such sections as results of neonatal screening, diagnostics and criteria for treatment, lifelong follow-up, genetics of congenital hypothyroidism, family genetic counselling. The key points of new congenital hypothyroidism guidelines were commented by pediatric endocrinologists of Russians.

scholarly journals Neonatal screening for congenital hypothyroidism: results and perspectives. Hormone research

2000 ◽  
Vol 46 (1) ◽  
pp. 37-46
Author(s):  
F. Delange
Keyword(s):  
Mental Retardation ◽  
Thyroid Hormones ◽  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Hepatitis A ◽  
Postnatal Period ◽  
Pediatric Endocrinology ◽  
Industrial Countries ◽  
Hormone Research ◽  
The Brain

Congenital hypothyroidism (HB) is detected in 1 out of 4,000 newborns [1, 2]. G is one of the most common diseases in pediatric endocrinology [3 |, as well as one of the most common cases of reversible brain damage and mental retardation in industrial countries. The delay in mental development in hepatitis A is associated with the fact that thyroid hormones take an active part in the development of the brain | 4], the formation of which occurs in utero and in the early postnatal period until the 2nd or 3rd year of life [5].

Descriptive Epidemiology of Missed Cases of Phenylketonuria and Congenital Hypothyroidism

PEDIATRICS ◽  
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.

scholarly journals Intellectual outcome at 12 years of age in congenital hypothyroidism

1999 ◽  
pp. 105-110 ◽  
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.

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

2018 ◽  
Vol 31 (6) ◽  
pp. 619-624 ◽  
Author(s):  
Yılmaz Kor ◽  
Deniz Kor
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
Initial Evaluation ◽  
Current Status ◽  
The Mean ◽  
Neonatal Screening Program ◽  
Heel Prick

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).

scholarly journals Diagnosis and follow-up of patients with congenital hypothyroidism detected by neonatal screening

2019 ◽  
Vol 90 (4) ◽  
pp. 250.e1-250.e8
Author(s):  
Amparo Rodríguez Sánchez ◽  
María J. Chueca Guindulain ◽  
María Alija Merillas ◽  
Susana Ares Segura ◽  
José Carlos Moreno Navarro ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening
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