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DiGeorge Syndrome is a complex group of congenital malformations among which is a susceptibility of recurrent infections due to a decreased immune system and the occurrence of seizures during infancy due to low levels of calcium in the blood. The disorder results from faulty development of two of the pharyngeal pouches during early development of the fetus. The parathyroid gland which regulates the concentration of calcium in the blood, and the thymus gland which transforms certain lymphocytes into T-Cells (responsible for cellular and long term immune reactions), are absent or abnormal in DiGeorge Syndrome. Osteomalacia is a disease that causes softening of the bones due to insufficient levels of calcium. This results in the bones becoming brittle, and easily broken. It is characterized by pains in the limbs, spine and pelvis, and general weakness. It is seen mostly in adult women. Hyperparathyroidism by Judith Taylor In Primary Hyperparathyroidism, one or more of the parathyroid glands is out of control and produces too much parathyroid hormone, which releases calcium from bones and food and raises the blood calcium level. In some people there are no symptoms and the disorder is discovered by chance, but in others there are moderate to severe symptoms related to the hypercalcaemia (=high blood calcium) which are sometimes categorised as 'moans' (fatigue, personality changes, depression) 'groans' (nausea, loss of appetite, upper abdominal pain, increased urination) 'stones' (kidney stones) and 'bones' (osteoporosis, muscle weakness and pain, and sometimes fractures). The most common cause is a single enlarged parathyroid although in some cases two or more parathyroids are enlarged (=hyperplasia). In very rare cases indeed the cause is parathyroid cancer. If there are symptoms the standard treatment is surgery but if there are no symptoms the usual advice is to watch and wait. The affected parathyroid(s) are sometimes difficult to find, and even in the hands of an experienced surgeon there may be a small risk of temporary or even permanent parathyroid damage resulting in hypoparathyroidism.
Secondary Hyperparathyroidism is a rare disorder in which an initial low blood calcium triggers an increase in parathyroid hormone. The most common causes are kidney failure, Sprue, or a diet deficient in calcium or vitamin D. The underlying cause needs treating. Sometimes one of the parathyroids becomes autonomous and starts producing too much parathyroid hormone after the underlying cause has been treated. This, then, is called Tertiary Hyperparathyroidism. If this happens the offending parathyroid is usually removed surgically.
Familial Hyperparathyroidism. There are two types categorised as Multiple Endocrine Neoplasia (MEN-1 or Werner's Sydrome and MEN-2 or Sipple Syndrome) and a third type, Familial Hypocalcuric (Benign) Hypercalcaemia. These are inherited disorders where affected individuals develop tumours in two or more endocrine glands at the same time, making the affected glands overactive.
Thyroid Cancer Those of you with Thyroid Cancer may also like to visit our Yahoo! support group now run by Ruth Pink, and supported by Ian Adams, a Radiation Safety Officer at the Institute for Cancer Research for those having RAI treatment. Visit www.thyroidcancersupportuk.org where you will find a lively message forum as well as files and links.
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