Living with Familial gestational hyperthyroidism
A rare inherited condition in which pregnancy hormones overstimulate the thyroid, causing severe nausea and an overactive thyroid.
Understanding Familial gestational hyperthyroidism
The thyroid receptor is too sensitive to a hormone made in pregnancy (chorionic gonadotropin), even when hormone levels are not unusually high. There are no signs of eye changes. It is seen in the teen years and adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Overactive thyroid (hyperthyroidism)
- Severe nausea and vomiting in pregnancy
- Weight loss
- Fast heartbeat and sweating
- Hand tremor
- Enlarged thyroid (goiter)
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, hormone specialists, maternal-fetal medicine specialists and women’s reproductive health specialists.
- 3Consider genetic testing
Changes in TSHR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Women’s reproductive health specialists (obstetricians / gynecologists)
- 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 the TSHR gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
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 gestational hyperthyroidism.
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