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Mutations of the TSH receptor
This is a most important achievement in the thyroid pathophysiology in
recent years. We now know (Utiger 1995) that a mutation of the TSH receptor
in the thyroid can cause hypothyroidism (resistance to TSH) as well as
hyperthyroidism with diffuse thyroid hyperplasia (goitre) or hyperfunctioning
(toxic) thyroid adenomas. The long-sought cause of toxic adenomas is coming
to be understandable. We probably will never get a medical treatment for
this mutation: propylthiouracil or methimazole or else surgical ablations
of the toxic adenomas will remain our treatment of choice. In this way,
the thyroid gland is joining other well-known causes of hormonal insensivity
- androgen resistance syndrome, non-immunogenic diabetes mellitus (NIDDM)
and pseudohypoparathyroidism. But it is obvious that we now know the cause
of toxic adenomas. Will that occur in other fields - e. g. adrenal cortex
adenomas with Cushing's syndrome? So, the sixth enigma starts to be explained.
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