| Symbol
| TRHRD
|
| Location
| 8q23.1
|
| Name
|
thyrotropin-releasing hormone receptor deficiency |
| Other name(s)
|
Hypothyroidism, congenital, nongoitrous, 7 |
| Corresponding gene
|
TRHR
|
| Other symbol(s)
| CHNG7
|
| Main clinical features
|
isolated central hypothyroidism unresponsive to TRH
characterized by normal-to-low T4 and normal-to-high thyrotropin (TSH) levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone (TRH); short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue |
Genetic determination
| Function/system disorder
| endocrinology |
| Type
| disease
| |