X- Linked Hypoparathyroidism: Signs, Symptoms, Diagnosis, and Treatment

Introduction

Hypoparathyroidism is a disease involving hypocalcemia and hyperphosphatemia. It occurs due to abnormality in the parathyroid gland as it is not producing enough of the hormone required by the body. However, there are other causes of hypoparathyroidism also. Among those, X-linked hypoparathyroidism is also present.

What Is X-Linked Hypoparathyroidism?

X-linked hypothyroidism is a rare type of disease in which hypothyroidism is a genetic deformity. It is an autosomal recessive X-linked hypothyroidism. It occurs because of agenesis of the parathyroid gland. It involves features like loss of calcium from the body, seizures, more phosphorus in the blood, and lack of parathyroid tissues with abnormal parathyroid hormonal levels. It is named isolated familial hypoparathyroidism.

What Are the Signs and Symptoms of X-Linked Hypoparathyroidism?

There are many symptoms of X-linked hypoparathyroidism, but one of them is the same in hyperparathyroidism, which is hypocalcemia. Some of the common signs and symptoms of hypoparathyroidism are:

• Severe hypocalcemia (low calcium levels in the blood).

• Seizures.

• Hyperphosphatemia (high phosphorus rate in the blood).

• Undefined parathyroid hormone levels.

• Lack of parathyroid tissues.

A few acute symptoms can be seen early in X-linked hypoparathyroidism cases. Some of these acute symptoms are:

• Paresthesia.

• Twitching in the hands and feet.

• Loss of consciousness.

• Troublesome breathing.

There are a few chronic symptoms present that can be seen in the X-linked hypoparathyroidism cases. Some of these chronic symptoms that are seen are:

• Seizures.

• Tiredness.

• Irritability.

• Cardiac insufficiency.

• Abnormality in the rhythms of the heart.

• Brittleness of hair, skin, and nails.

• Calcium gets deposited over the brain or kidneys.

What Are the Complications Seen in the Cases of X-Linked Hypoparathyroidism?

They are complications of X-linked hypoparathyroidism. The complications rea:

• Delayed growth.

• Psychomotor activities get delayed.

• Delay in the dentition.

• Cataracts.

• Papilledema (swelling at the region of the optic nerve).

• In children, it can cause laryngospasm.

What Is the Pathophysiology of X-Linked Hypoparathyroidism?

The pathophysiology of X-linked hypoparathyroidism involves underdeveloped parathyroid tissues or the absence of parathyroid glands. It leads to undefined parathyroid hormone levels in the blood or no parathyroid hormone present in the body. The absence or underdeveloped parathyroid gland is mainly due to the genetic mutation of the X chromosome. The genetic disorder is due to X chromosome region Xq26-27 being affected.

What Is the Diagnosis for X-Linked Hypoparathyroidism?

The diagnosis of X-linked hypoparathyroidism is made by various tests like

• Blood Test - It is performed to notify about the parathyroid hormones, along with low calcium and phosphorus levels.

• Chvostek Sign - It is a typical sign for presenting low calcium levels in the blood. It presents the twitching of the facial muscles and affects the facial nerve. Under this sign, the person can elicit involuntary contraction of the ipsilateral muscle.

• Trousseau Sign - It is a typical sign of tetany that also depicts low calcium levels in the blood or hypocalcemia. It involves the involuntary contraction of the muscles of the hand and wrist.

• DNA Testing - It is performed to depict the abnormalities in the DNA of the patient or the chromosome levels as X-linked hypoparathyroidism is an autosomal recessive X-linked disease.

• ECG (electrocardiogram) - It is done to check abnormal heart rhythms.

• Bone Density Test - Bone density test to depict the effects of calcium loss in the body.

• Urine Tests - Urine tests are made to check the calcium levels in urine and to know the kidney's involvement in excreting too much calcium out of the body.

How Is X-Linked Hypoparathyroidism Different From Hypoparathyroidism?

X-linked hypoparathyroidism is different from hypoparathyroidism in ways. X-linked hypoparathyroidism is an autosomal recessive chromosomal deformity or mutation at the region of Xq26-27 in the X chromosome, whereas hypoparathyroidism is due to abnormalities in the levels of parathyroid hormone as it does not produce enough parathyroid hormone. However, both diseases are rare and have many symptoms in common. But still, the difference prevails in the causes and etiology of hypoparathyroidism.

What Is the Treatment Plan For X-Linked Hypoparathyroidism?

The treatment for X-linked hypoparathyroidism is as follows:

• Calcium Supplementation - The patient is deficient in calcium in these cases, so the calcium supplements are given at times to overcome the calcium deficiency present in them. Calcium supplementation can be given by various means as tablets, chewable, or liquids. However, these have a few side effects, like constipation in some populations.

• Vitamin D Dosage - Doses of Vitamin D are also required in a few patients. And these can be given in the Calciferol form. As vitamin D increase also increases the absorption of calcium and starts the loss of phosphorus accumulated in the blood. And Calciferol is the active form of Vitamin D.

• Thiazide Diuretics - It is a medication given when calcium is lost or excreted through the urine is more and to overcome the loss of calcium or to decrease the calcium output through the urine, thiazides can be very helpful.

• Parathyroid Hormone Replacement - It is used in patients whose blood calcium levels have not been increased after the use of calcium supplements and vitamin D usage. As low levels of parathyroid hormone can be very threatening, so, to improve the levels, intravenous injections are given to patients who are suffering from such issues.

• Dietary Plan - The patient suffering from hypoparathyroidism should keep a diet rich in calcium and low in phosphorus. As phosphorus levels are already increased in the patient, and calcium levels are quite low.

Conclusion:

X-linked hypoparathyroidism is a very rare type of disease present in patients with chromosome X mutation at the region of Xq26-27. It involves the characteristics like hypocalcemia and hyperphosphatemia. The patient is seen with seizures, abnormal heart rhythm, calcium deposits over the brain, irritability, paresthesia, and twitching of hands and feet. It is very clear is due to agenesis of the parathyroid gland. The patient, due to such disease, can have a delay in dentition, growth, and psychomotor activities. It can be diagnosed by the blood test, Chvostek sign, Trousseau sign, and urine and ECG (electrocardiogram). It can be treated by using calcium supplements, vitamin D, and thiazide diuretics, and if nothing goes, then intravenous parathyroid hormone injection.