Living with Isolated thyroid-stimulating hormone deficiency
A condition present from birth in which the body makes too little thyroid-stimulating hormone, so the thyroid makes too little thyroid hormone.
Understanding Isolated thyroid-stimulating hormone deficiency
The body does not make enough TSH, the hormone that tells the thyroid to work. As a result, thyroid hormone levels are low. It is seen in newborns and infants and can affect growth, feeding, and development.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tiredness (fatigue)
- Constipation
- Dry skin
- Slow growth
- Feeding difficulties in infancy
- Hoarse cry
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.
- 3Consider genetic testing
Changes in TSHB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Pituitary Network Association
- 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 Pituitary Network Association
- 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 TSHB gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: chng4; hypothryoidism, congenital, nongoitrous 4; hypothyroidism, congenital, nongoitrous 4; hypothyroidism, congenital, nongoitrous, type 4; isolated thyrotropin deficiency; isolated tsh deficiency
Patient organizations
- Pituitary Network AssociationPituitary deficiencies · United States
Broader rare-disease groups
- 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 Isolated thyroid-stimulating hormone deficiency.
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