X-linked recessive hypoparathyroidism

X-linked recessive hypoparathyroidism is a rare, congenital form of hypoparathyroidism.

X-linked recessive hypoparathyroidism
X-linked recessive manner of inheritance
SpecialtyEndocrinology

Signs and symptoms

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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

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This disease is named for its inheritance, which occurs in an x-linked recessive pattern.[1]

Pathophysiology

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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

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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

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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]

References

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  1. ^ a b c d e "Hypoparathyroidism". www.socialstyrelsen.se. Retrieved 2015-07-19.
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