Conditions / Endocrine
congenital nongoitrous hypothyroidism 7
info · Endocrine
A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the
A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1.
Signs and symptoms
- Lethargy
- Delayed skeletal maturation
- Decreased circulating T4 concentration
- Short stature
- Fatigue
- Growth delay
- Reduced TSH response to thyrotrophin-releasing hormone stimulation test
Also known as: CHNG7; TRH resistance syndrome; central hypothyroidism due to TRH receptor deficiency; resistance to thyrotropin-releasing hormone syndrome