Hormone resistance syndromes. Contemporary endocrinology series
✍ Scribed by Rallison, Marvin L.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 3 KB
- Volume
- 86
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
In this authoritative volume from Contemporary Endocrinology Series, the authors have chosen to highlight hormone resistance syndromes, introducing applicable clinical presentations and providing an extensive review of what is known about the mutations giving rise to anomalies of hormone receptors that provide the molecular genetic basis for hormone resistance syndromes. The recognition of resistance to hormone action in clinical endocrinology dates from observations by Fuller Albright, who in 1942 suggested endorgan resistance to the action of parathyroid hormone (PTH), which he called pseudo-hypoparathyroidism, a form of hypoparathyroidism with normal biologically active PTH. He noted similarities between PHP and the Seabright-Bantam syndrome in roosters that failed to form male cockscombs despite normal amounts of androgen.
The authors have expanded these initial observations to recognition of resistance syndromes in virtually all hormonal systems. The explosion of information concerning molecular biology and the interrelationship of hormones, their receptors, and genetic patterns has revolutionized our understanding of the action of hormones and has led to the elucidation of the mechanisms of hormone resistance syndromes.
The authors note two syndromes affecting growth: a mutation of the GHRH receptor, resulting in the little mouse or Sindh dwarfism, and GH receptor defects, resulting in Laron dwarfism. GH receptor defects may be hereditary, as in Laron dwarfism, and affect the receptor itself, signal transduction, or formation of IGF-1 and may be mimicked by malnutrition, diabetes, or liver disease; or, the receptor may be blocked by antibodies. Similar observations are made with the classic PTH resistance syndromes in which variations in presentation are noted to have specific biochemical, molecular, and genetic characteristics.
Our understanding of vitamin D resistant rickets is vastly improved by studies of the molecular biology of the vitamin D receptors. Analysis of the vitamin D resistance syndrome provides insights into vitamin D physiology and the role of vitamin D receptors in mediating vitamin D action. Familial hpocalciuric hypercalcemia (FHH) and neonatal hyperparathyroidism are considered to be the result of abnormal extracellular Ca++ sensing caused by mutations in Ca++ sensing receptors.
The sections on thyroid resistance syndromes mention molecular defects in the thyroid releasing hormone, thyroid stimulating hormone, and thyroid recep-