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Health Professionals Guide to Newborn Screening: Congenital Hypothyroidism

Health Professionals Guide to Newborn Screening

Congenital Hypothyroidism

Disorders of the thyroid-hypothalamus-pituitary axis resulting in inadequate production of thyroid hormones. Hypothyroidism is a family of disorders, including endemic cretinism, thyroid agenesis or ectopia, genetic disorders of thyroid hormonogenesis, or hypopituitarism.

Prevalence (WI): 1:2,900
Analyte Measured: Thyroid Simulating Hormone (TSH)

Reporting Ranges:

Reporting ranges are specimen collection age specific.

Collection Age

TSH (uIU/mL)

Report (color)

0-25 hrs

³ 37
³ 50

Possible (blue)
Definite (gold)

26-96 hrs

³ 30
³ 50

Possible (blue)
Definite (gold)

4-14 days

³ 17

Definite (gold)

> 14 days

³ 15

Definite (gold)

Feeding Effect: None
Timing Effect:

< 24 hours of age: Repeat at two weeks
³ 24 hours of age: Results are valid

Confirmation:

Definite Abnormal: Perform serum thyroxine(T4) and TSH assays.

Possible Abnormal: Repeat newborn screen through WSLH.

Treatment:

Oral intake of thyroxine (synthyroid). Dose is weight-dependent, therefore consultation with a pediatric endocrinologist is recommended.

COMMENT: TSH increases dramatically shortly after birth and gradually returns to adult normal levels in about 72 hours.  False positive results occur due to the specimen being collected at the height of the TSH spike, usually within the first hours of life.  Although newborn screening can detect “primary” hypothyroidism with a high degree of accuracy, other forms of hypothyroidism may develop in the weeks after birth. The physician must therefore remain alert to clinical symptoms in older infants despite normal newborn screening results.  Perform serum total T4, free T4, and TSH if any doubt exists.

Information on treatment centers is also available on this site.


For information about other screened disorders, click on the next page button, or follow one of these links:

Argininosuccinic Acidemia (ASA) Hemoglobin Variants
Biotinidase Deficiency Homocystinuria
Congenital Adrenal Hyperplasia Hypermethioninemia
Congenital Hypothyroidism Hyperphenyalaninemia
Citrullinemia (Types I & II) Maple Syrup Urine Disease
Cystic Fibrosis Organic Acidemias (14)

Fatty Acid Oxidation Disorders (12)

 

Phenylketonuria
(Includes Biopterin Cofactor defects
of regeneration and biosynthesis)

Galactosemia Severe Combined Immune Deficiency (SCID)
Hemoglobin S-Beta Thallassemia Sickle Cell Disease
Hemoglobin S/C Disease Tyrosinemia (Types I,II, & III)

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