Thyrotropin-releasing hormone deficiency

Common Name(s)

Thyrotropin-releasing hormone deficiency

Thyrotropin-releasing hormone deficiency is a rare condition in which the hypothalamus does not produce adequate amounts of a hormone called thyrotropin releasing hormone (TRH). The hypothalamus is a part of the brain that is located right above the pituitary gland. The hypothalamus has many functions, including the secretion of hormones that affect the pituitary gland. After it is secreted by the hypothalamus, TRH acts on the pituitary gland to cause release of a second hormone called thyroid stimulating hormone (TSH). TSH then acts at the thyroid gland where it causes release of thyroid hormone. In this condition, a deficiency of TRH leads to a deficiency of thyroid hormone, which is known as hypothyroidism.

Thyrotropin-releasing hormone deficiency is caused by a mutation or change in a gene that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene in order to develop the disease. If an individual only has one copy of the mutated gene, then they are considered to be a carrier but do not develop symptoms. This condition can also be caused by a hypothalamic disease or by an unknown (idiopathic) cause. The main symptoms seen in thyrotropin-releasing hormone deficiency are due to hypothyroidism. These symptoms include dry skin, fatigue, cold sensitivity, and unexpected weight gain. The condition is also associated with intellectual disabilities, short stature, and other abnormalities of the central nervous system as a result of altered hormone levels.

Thyrotropin-releasing hormone deficiency is diagnosed by measuring the hormone levels in the body. A thyroid hormone stimulation test may be performed in which a drug is given to try to induce the secretion of TSH and/or thyroid hormones. This condition is usually treated by lifelong hormone treatment to normalize hormone levels. Talk to your doctor about the most current treatment options.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thyrotropin-releasing hormone deficiency" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Thyrotropin-releasing hormone deficiency" returned 4 free, full-text research articles on human participants. First 3 results:

Isolated idiopathic central hypothyroidism in an adult, possibly caused by thyrotropin releasing hormone (TRH) deficiency.
 

Author(s): Alma Prieto-Tenreiro, Patricia Diaz-Guardiola

Journal: Hormones (Athens). ;9(2):176-80.

 

Central hypothyroidism (Central H) is mainly due to acquired lesions, either in the pituitary, the hypothalamus or both, and in such cases it is usually associated with deficient secretion of ther pituitary hormones. Isolated central hypothyroidism (I Central H) remains a very rare ...

Last Updated: 31 Dec 1969

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Serum thyrotropin response to thyrotropin-releasing hormone and free thyroid hormone indices in patients with familial thyroxine-binding globulin deficiency.
 

Author(s): N Konno

Journal: Endocrinol. Jpn.. 1977 Aug;23(4):313-7.

 

The response in serum thyrotropin (TSH) to synthetic thyrotropin-releasing hormone (TRH) as well as serum free thyroxine index (FT4I) and free triiodothyronine index (FT3I) was investigated in six patients with familial thyroxine-binding-globulin (TBG) deficiency. The total serum ...

Last Updated: 31 Dec 1969

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Serum thyrotropin response to thyrotropin-releasing hormone and free thyroid hormone indices in patients with familiar thyroxine-binding globulin deficiency.
 

Author(s): N Konno

Journal: Endocrinol. Jpn.. 1976 Aug;23(4):313-7.

 

The response in serum thyrotropin (TSH) to synthetic thyrotropin-releasing hormone (TRH) as well as serum free thyroxine index (FT4I) and free triiodothyronine index (FT3I) was investigated in six patients with familial thyroxine-binding-globulin (TBG) deficiency. The total serum ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Thyrotropin-releasing hormone deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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