Читать книгу Essential Endocrinology and Diabetes - Richard I. G. Holt - Страница 73

Several endocrinopathies occur because of activating or inactivating mutations in genes encoding GPCRs or G‐proteins coupled to them. Activating mutations cause constitutive overactivity; inactivating mutations cause hormone resistance syndromes characterized by high circulating hormone levels but diminished hormone action.

Gain of function

 LH receptor: male precocious puberty (Figure 3.13)

 TSH receptor: ‘toxic’ thyroid adenomas

 Gsα: McCune–Albright syndrome (Figure 3.14), some cases of acromegaly and some autonomous thyroid nodules

Loss of function

 V2 receptor: nephrogenic diabetes insipidus (high vasopressin)

 TSH receptor: resistance to TSH (high TSH)

 Gsα: pseudohypoparathyroidism (Figure 9.7) and Albright hereditary osteodystrophy