Living with Thyroid hypoplasia
A condition present at birth in which the thyroid gland is underdeveloped, leading to low thyroid hormone.
Understanding Thyroid hypoplasia
Signs usually appear in the newborn period or infancy. They can include tiredness, constipation, a swollen belly, a large tongue, jaundice, and slow growth and development.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tiredness (fatigue)
- Constipation
- Large tongue (macroglossia)
- Low muscle tone (hypotonia)
- Growth delay and short stature
- Global developmental delay
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.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD says changes in genes (variants) cause this condition and that it is autosomal dominant, so one changed copy of a gene can be enough. It doesn't name a specific gene.
Also known as: hypoplasia of thyroid; hypoplastic thyroid; small thyroid gland
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Thyroid hypoplasia.
Explore research for Thyroid hypoplasia
Explore actively recruiting Thyroid hypoplasia studies with HealthSpark.
Find actively recruiting studies for Thyroid hypoplasia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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