Isolated TSH deficiency is a rare autosomal recessive disease, that cause congenital hypothyroidism. Patients were found to have homozygous splice site mutation in the TSH beta subunit gene. They show symptoms of severe mental and growth retardation that can be prevented by early administration of exogenous thyroid hormone. Levothyroxine replacement therapy is the treatment of choice. Concomitant corticotropin deficiency should be excluded prior to starting therapy in order to avoid an adrenal crisis.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the pituitary hormone system
5A61 Hypofunction or certain other specified disorders of pituitary gland
H01699 Isolated TSH deficiency
Borck G, Topaloglu AK, Korsch E, Martine U, Wildhardt G, Onenli-Mungan N, Yuksel B, Aumann U, Koch G, Ozer G, Pfaffle R, Scherberg NH, Refetoff S, Pohlenz J
Title
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.