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Albright Hereditary Osteodystrophy

What are the symptoms?

AHO with Pseudo Hypoparathyroidism (PHP)
In addition to the characteristics described above, in PHP the body is unable to respond to various hormones. One such hormone is the parathyroid hormone (PTH). This is important as it maintains levels of calcium and phosphate in the blood. In PHP, parathyroid hormone is produced in normal amounts by the parathyroid gland and released into the blood. However, the body is 'resistant' to its effects and this causes various symptoms. Individuals have low calcium levels (hypocalcemia), high phosphate levels (hyperphosphatemia) and elevated parathyroid hormone in the blood. Signs of hypocalcemia include tingling in the fingers, muscle cramps, possible seizures (fits) and cataracts. Hypocalcemia typically begins in childhood. Another hormone which the body is unable to respond to in PHP is the thyroid stimulating hormone (TSH) which makes the thyroid gland produce thyroid hormone. The effects of lack of thyroid hormone are a tendency to weight gain, dry skin and hair, lack of energy and to feel the cold.

AHO with Pseudo Pseudo Hypoparathyroidism (PPHP)
Individuals with AHO with pseudo pseudo hypoparathyroidism (PPHP) do not have low levels of calcium but do have the range of the physical features described above.

View Background Background  |  How is it treated? View How is it treated?

Medical text written October 2003 by Contact a Family. Approved October 2003 by Dr L Wilson, Consultant in Clinical Genetics, Institute of Child Health, London, UK.

 

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