selective pituitary thyroid hormone resistance (PRTH); familial hyperthyroidism due to inappropriate thyrotropin secretion

Introduction

variant form of thyroid hormone resistance

Pathology

• apparently defect in T3 receptor beta gene is restricted to the pituitary
• result is loss of feedback inhibition of TSH secretion by anterior pituitary

Genetics

• associated with defects in the T3 receptor beta gene

Clinical manifestations

• clinical hyperthyroidism

Laboratory

• elevated free T3 & free T4
• inappropriately normal serum TSH

More general terms

• hyperthyroidism

Additional terms

• syndrome of thyroid hormone resistance; generalized thyroid hormone resistance; Refetoff syndrome

Database

• OMIM: https://mirror.omim.org/entry/145650