Living with Familial thyroid dyshormonogenesis
A form of underactive thyroid present from birth because the thyroid cannot make enough thyroid hormone.
Understanding Familial thyroid dyshormonogenesis
It results from inborn errors in how the thyroid makes thyroid hormone. It starts in newborns and infants. Signs can include feeding trouble, constipation, a long-lasting yellow color in newborns (jaundice), an enlarged thyroid (goiter), and developmental delay.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underactive thyroid from birth
- Enlarged thyroid in the neck (goiter)
- Feeding difficulties in infancy
- Constipation
- Prolonged newborn jaundice
- Delays in development
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 brain and nervous system specialists, 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
- Brain and nervous system specialists (neurologists); 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
Changes in genes cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: nongoitrous hyperthyrotropinemia; thyroid dyshormonogenesis
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 Familial thyroid dyshormonogenesis.
Explore research for Familial thyroid dyshormonogenesis
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