Resistance To Thyrotropin-releasing Hormone Syndrome
Description
Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) 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.
Genes related to Resistance To Thyrotropin-releasing Hormone Syndrome
- TRHR
Clinical Features
Top most frequent phenotypes and symptoms related to Resistance To Thyrotropin-releasing Hormone Syndrome
- Global developmental delay
- Generalized hypotonia
- Growth delay
- Muscular hypotonia
- Feeding difficulties
- Constipation
- Hypothyroidism
- Coarse facial features
- Umbilical hernia
- Sleep disturbance
And another 5 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Resistance To Thyrotropin-releasing Hormone Syndrome Is also known as trh resistance syndrome, central hypothyroidism due to trh receptor deficiency.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
You can check the following sources for additional information.
ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SYSTEMIC LUPUS ERYTHEMATOSUS; SLE RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME CHROMOSOME 1p36 DELETION SYNDROME WEAVER SYNDROME; WVS CAP MYOPATHY CUSHING DISEASE