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Hyperthyroidism - MedlinePlus Genetics

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Last Updated: 26 July 2022

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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Multiple autoimmune disorders in impacted individuals are characteristic of IPEX syndrome. In early childhood, IPEX syndrome can be life-threatening. Almost all people with IPEX syndrome have an intestine disorder called autoimmune enteropathy. Autoimmune enteropathy occurs in the intestines when certain cells in the intestines are destroyed by a person's immune system. Autoimmune enteropathy is a common condition that affects the first few months of life. People with IPEX syndrome often have inflammation of the skin, called dermatitis. Eczema is the most common form of dermatitis related to the condition, and it causes abnormal patches of red, irritated skin. IPEX syndrome is often associated with other skin disorders that cause similar symptoms. In IPEX syndrome, polyendocrinopathy is used because people can suffer multiple disorders of the endocrine glands. Type 1 diabetes mellitus is an autoimmune disease affecting the pancreas and is the most common endocrine disorder in people with IPEX syndrome. In people with IPEX syndrome, autoimmune thyroid disease may also occur. Individuals with IPEX syndrome have other autoimmune disorders than those that involve the intestines, skin, and endocrine glands. Autoimmune blood disorders are common; around half of those patients have low levels of red blood cells, platelets, or specific white blood cells because these cells are weakened by the immune system. IPEX syndrome affects the liver and kidneys in some people.

Source link: https://medlineplus.gov/genetics/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome


McCune-Albright syndrome

People with McCune-Albright syndrome have abnormal scar tissue in their bones, a condition called polyostotic fibrous dysplasia. Bone replacement with fibrous tissue may result in fractures, uneven growth, and deformity. When lesions develop in the skull and jaw bones of the skull and jawbone, uneven facial growth may result. Asymmetry may also occur in the long bones, and leg bone development unevenly can result in limping. Bone lesions can become cancerous, but only in fewer than 1% of people with McCune-Albright syndrome. Patients with bone abnormalities and cafu00e9-au-lait spots usually have light brown patches of skin called caf-au-lait spots, which may be present from birth. The irregular boundaries of the cafu00e9-au-lait spots in McCune-Albright syndrome's McCune-Albright syndrome are often compared to a map of Maine's coast. The cafu00e9-au-lait spots in McCune-Albright syndrome may appear on only one side of the body, as with the bone lesions. Girls with McCune-Albright syndrome may reach puberty early in puberty. By age 2, these girls are often experiencing menstrual bleeding by this age. Less often, boys with McCune-Albright syndrome may also have early puberty. People with McCune-Albright syndrome may also have other endocrine disorders. The pituitary gland may secretly produce too much growth hormone. The excess growth hormone revelation may have contributed to increased expansion of the fibrous dysplasia in the bones, most prominent in the skull. Cushing syndrome is the product of McCune-Albright syndrome in people with McCune-Albright syndrome. Cushing syndrome can be present in people with McCune-Albright syndrome, and it is not present in people with McCune-Albright syndrome. Cushing syndrome is present in children under the age of 2.

Source link: https://medlineplus.gov/genetics/condition/mccune-albright-syndrome


Hyperparathyroidism-jaw tumor syndrome

Hyperparathyroidism-jaw tumor syndrome is a condition that is characterized by chronic inflammation of the parathyroid glands. Hyperthyroidism is caused by tumors that have formed in the parathyroid glands in patients with hyperthyroidism-jaw tumor syndrome. Around 11% of people with hyperparathyroidism-jaw tumor syndrome have parathyroid carcinoma, a cancerous tumor. A fibroma in the jaw can also be caused by hyperparathyroidism-jaw tumor syndrome. Even though jaw tumors are listed in the name of this disease, it is estimated that only 25 to 50% of affected people have this condition. In about 20% of people with hyperparathyroidism-jaw tumor syndrome, the kidneys are affected. The most common kidney disorder is Benign kidney cysts, but other types of kidney tumor have been discovered, as well as a rare tumor called Wilms tumor.

Source link: https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions