Living with Hypothyroidism, congenital, nongoitrous, 7
A type of congenital hypothyroidism in which the pituitary gland does not respond to a signal hormone, so thyroid hormone is low.
Understanding Hypothyroidism, congenital, nongoitrous, 7
Thyroid hormone levels are low because the pituitary does not release enough thyroid-stimulating hormone (TSH). The pituitary is resistant to a signal called TRH. It may or may not be seen from birth. It usually shows in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fatigue and lethargy
- Slow growth
- Delayed development
- Dry skin
- Hoarse voice
- Prolonged jaundice in newborns
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 TRHR 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)
- 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 TRHR gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: central hypothyroidism due to trh receptor deficiency; chng7; congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency; resistance to thyrotropin-releasing hormone syndrome; thyrotropin-releasing hormone resistance, generalized; trh (thyrotropin-releasing hormone) resistance syndrome
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
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