X-linked recessive hypoparathyroidism
| X-linked recessive hypoparathyroidism | |
|---|---|
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| X-linked recessive manner of inheritance | |
| Specialty | Endocrinology |
X-linked recessive hypoparathyroidism is a rare, congenital form of hypoparathyroidism.
Signs and symptoms[edit]
The signs and symptoms of X-linked recessive hypoparathyroidism are characteristic of hypoparathyroidism and its consequent hypocalcemia. They include acute symptoms, like paresthesia, twitching of the hands and feet, unconsciousness, and trouble breathing; and chronic symptoms, including seizures, tiredness, irritability, cardiac insufficiency, abnormal heart rhythms, papilledema, cataracts, calcium deposits in the brain, and loss or brittleness of hair, skin, and nails.[1]
Genetics[edit]
This disease is named for its inheritance, which occurs in an x-linked recessive pattern.[1]
Pathophysiology[edit]
In this particular form of hypoparathyroidism, the parathyroid glands are underdeveloped and therefore do not produce enough parathyroid hormone. This is caused by a mutation on the x chromosome in the region of Xq26-27.[1]
Diagnosis[edit]
Hypoparathyroidism can be diagnosed using blood tests, the Chvostek sign, and the Trousseau sign. If comorbid conditions like congenital malformations, impaired growth, and intellectual disability are present, it may be a genetic form of hypoparathyroidism; the affected gene can be determined using a DNA test.[1]
Treatment[edit]
X-linked recessive hypoparathyroidism is treated like other forms of the disease, using calcium and vitamin D supplementation. Supplementation with parathyroid hormone is another treatment option.[1]