Living with Congenital hypothyroidism
A condition from birth in which the thyroid gland makes too little hormone, which affects growth and brain development.
Understanding Congenital hypothyroidism
The thyroid makes hormones that help regulate growth, brain development and metabolism. In 80 to 85 percent of cases, the thyroid is missing, very small or in the wrong place. In the rest, the thyroid is normal or enlarged (goiter) but makes too little hormone, or the signal from the pituitary gland is impaired. Some babies show no signs, while others are less active, sleep more and have trouble feeding or constipation.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these features:
- Less active and sleeping more than usual
- Difficulty feeding
- Constipation
- Slow growth if untreated
- Intellectual disability if untreated
- Often no signs in babies
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Fetal Health Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Fetal Health Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Fetal Health Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It happens when the thyroid fails to develop or work properly, or its stimulation by the pituitary gland is impaired. GARD lists autosomal recessive inheritance.
Also known as: congenital goiter; congenital hypothyroidism not due to iodine deficiency; congenital iodine deficiency syndrome; hypothyroidism, congenital; infantile hypothyroidism; underactive thyroid gland from birth
Patient organizations
- Fetal Health FoundationCongenital hypothyroidism · United States
- The MAGIC FoundationCongenital hypothyroidism · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital hypothyroidism.
Explore research for Congenital hypothyroidism
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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