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Start free with EleplanResistance to thyrotropin-releasing hormone syndrome
ORPHA:99832Disease
Also called Central hypothyroidism due to TRH receptor deficiency · TRH resistance syndrome
What it is
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
19- Abnormal circulating thyroglobulin concentration
- Abnormality of the nervous system
- Decreased circulating free T3
- Decreased circulating thyroxine level
- Delayed skeletal maturation
- Depression
- Dry skin
- Fatigue
- Growth delay
- Hoarse voice
- Increased circulating prolactin concentration
- Lethargy
- Neurodevelopmental delay
- Overweight
- Pituitary hypothyroidism
- Prolonged neonatal jaundice
- Reduced circulating prolactin concentration
- Reduced radioactive iodine uptake
- Thyroid hypoplasia
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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