[Connatal endocrine disorders caused by receptor defects].
Since the description in 1942 of pseudohypoparathyroidism by Albright et al. hormone resistances have been documented for several peptide and steroid hormones as well as the thyroid hormones. Some of these diseases appear to be acquired while others are genetic. The hormone unresponsiveness may be complete or partial and may involve multiple hormone systems, as demonstrated in pseudohypoparathyroidism type I. Hormone resistances are characterized by hypofunction of hormone systems combined with a normal or even high secretion of the particular hormones. The connatal endocrinopathies where receptor defects have been implicated are reviewed.
D000450:Aldosterone / Q000172:deficiency; D000728:Androgens / Q000378:metabolism; D003919:Diabetes Insipidus / Q000378:metabolism; D004392:Dwarfism / Q000378:metabolism; D004700:Endocrine System Diseases / Q000209:etiology*; D005938:Glucocorticoids / Q000172:deficiency; D006062:Gonadotropins / Q000378:metabolism; D006801:Humans; D007333:Insulin Resistance; D011547:Pseudohypoparathyroidism / Q000378:metabolism; D011956:Receptors, Cell Surface / Q000172:deficiency*; D012279:Rickets / Q000378:metabolism; D013963:Thyroid Hormones / Q000172:deficiency; D013972:Thyrotropin / Q000378:metabolism
D000728:Androgens; D005938:Glucocorticoids; D006062:Gonadotropins; D011956:Receptors, Cell Surface; D013963:Thyroid Hormones; D000450:Aldosterone; D013972:Thyrotropin
Durch Rezeptordefekte verursachte angeborene Endokrinopathien.