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Screening & Prevention >> Newborn Screening >> Endocrine Disorders >> Congenital hypothyroidism

Congenital hypothyroidism

Disorder Category

an endocrine disorder

Screening

Finding

elevated TSH

Tested By

thyroid stimulating hormone (TSH), and thyroxine (T4)

Names

Congenital hypothyroidism

Cretinism

Congenital myxedema

ICD-9

243, Congenital hypothyroidism

Overview

Of the causes of congenital hypothyroidism, thyroid agenesis and ectopic thyroid comprise about 75-80% and inborn errors in thyroid hormone synthesis, dysfunction of the hypothalamic-pituitary axis, and thyroid hormone receptor defects comprise the rest. The inborn errors include: thyroid stimulating hormone (TSH) receptor defects, abnormalities of iodide uptake, abnormality in iodide to iodine conversion (peroxidase defect, Pendred syndrome), thyroglobulin defect, and deiodinase defect. Iodine deficiency during pregnancy contributes to congenital hypothyroidism still in many countries. About 10% of those identified by newborn screening will have transient hypothyroidism, often secondary to maternal factors. Though physical findings and symptoms may not be apparent until a few months of life, central nervous system injury may occur during that time.

Prevalence

Congenital hypothyroidism occurs in about 1/3,700 live births. The incidence is increased in Hispanic infants, in girls, and in twins, and decreased in boys and in African-Americans. Infants with Down syndrome have a 35-fold increased risk.

Inheritance

Most cases are sporadic, but about 15% are inherited as autosomal recessive. Several gene mutations are known to cause congenital hypothyroidism.

Other Testing

Newborn screening results may be normal in infants with clinical symptoms. Additional testing is recommended when clinical symptoms are present. False-positive testing may result from samples taken within the first 48 hours of life. Retesting is suggested.

Clinical Characteristics

With early treatment, normal growth, development, and IQ can be expected. Without treatment, affected individuals will increasingly develop symptoms as described below, along with growth retardation and irreversible neurodevelopmental impairment.

Only about 5% of infants have detectable physical findings or symptoms at birth. Inital signs and symptoms may include:
  • hypotonia;
  • umbilical hernia;
  • puffy face;
  • large tongue;
  • large fontanelle;
  • short fingers and broad hands;
  • short legs and arms;
  • hyperreflexive jerk with marked slowing of return phase;
  • hoarse-sounding voice or cry;
  • mottled, cool, dry skin; and
  • goiter.

If untreated, signs and symptoms that may develop over the subsequent weeks include:
  • prolonged jaundice,
  • constipation,
  • feeding problems,
  • distended abdomen, and
  • lethargy.

Follow-up on positive screening test

Serum free T4 and TSH.

Primary care management

Upon notification of the + screen

If the diagnosis is confirmed

  • Educate the family regarding signs and symptoms;
  • Levothyroxine is indicated for affected children and should be monitored and adjusted in collaboration with a pediatric endocrinologist;
  • For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.

Specialty Care Management

Initial consultation and ongoing collaboration, particularly for medication management. Genetic counseling for the family may be indicated.

Resources

Links

For Professionals

ACT Sheet for Congenital hypothyroidism from ACMG (pdf 62kb)
Developed by the American College of Medical Genetics (ACMG), includes recommended responses to positive newborn screening test results, diagnostic evaluation, clinical expectations, and sources of additional information. See the ACMG ACT Sheets and Confirmatory Algorithms (link elsewhere on this page) for more info and sheets on other conditions.

ACMG ACT Sheets and Confirmatory Algorithms
The American College of Medical Genetics (ACMG) has developed ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results. This page contains a table with links to all of the ACT Sheets and related algorithms.

Congenital hypothyroidism, Utah Newborn Screening Program
Article by Rob Lindsay, MD on the Utah Newborn Screening Program's website.

Congenital hypothyroidism, Contemporary Pediatrics
"Congenital Hypothyroidism: a guide for the general pediatrician" - a review article by Alex Kemper, MD and Carol Foster, MD from Contemporary Pediatrics, 2003.

Utah Newborn Screening Program
The site provides information and statistics about the program and related legislation, training for practices, and the conditions screened for.

For Parents

Congenital hypothyroidism, Genetics Home Reference
Eeview aimed at patients and families from the National Library of Medicine's Genetics Home Reference site; includes information on genes involved and inheritance.

Congenital hypothyroidism, parent info, NE Newborn Screening Program (pdf 106kb)
Single page information sheet for parents whose child has a positive screening test.

The MAGIC Foundation
A non-profit organization, providing support services for families of children with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect growth.

Services

Newborn Screening Programs

Utah Newborn Screening Program, more info...
44 Mario Capecchi Drive
Salt Lake City, UT84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening

Pediatric Endocrinology

Division of Pediatric Endocrinology, more info...
615 Arapeen Dr., Suite 100
Salt Lake City, UT84108
Phone: 801-581-7761
Fax: 801-587-3920
http://healthcare.utah.edu/utahdiabetescenter/pediatric/endocrinology.html

See all Pediatric Endocrinology services providers (2) in our database.

For other services related to this condition, browse our Services categories or search our database.

Helpful Articles

PubMed search for articles on congenital hypothyroidism in the last 5 years.

Authors

Reviewing Author: Nicola Longo MD, PhD, 3/2007
Compiled and edited by: Alfred Romeo RN, PhD, 3/2007
Content Last Updated: 3/2008
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