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IPEX Syndrome

By

Jennifer M. Barker

, MD, Children's Hospital Colorado, Division of Pediatric Endocrinology

Last full review/revision Mar 2021| Content last modified Mar 2021
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IPEX syndrome is a rare, hereditary autoimmune disorder that causes dysfunction of multiple endocrine glands and inflammation of the intestine.

The disorder is named for the most common symptoms that occur in affected people. IPEX stands for

Mainly boys are affected because the disorder is inherited in an X-linked recessive fashion X-Linked Inheritance Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more . The defective gene is carried on the X chromosome, which is one of the sex chromosomes. Women have two X chromosomes, so if one X chromosome contains a defective gene, the woman still has another X chromosome with a functioning gene. Men have only one X chromosome, so if they inherit the defective gene from their mother, they develop the disorder.

Diagnosis is suggested by the person's symptoms and the findings during the physical examination. Doctors use genetic analysis to confirm the diagnosis. Family members of boys with the defective gene also may be recommended to have genetic testing.

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Polyglandular Deficiency Syndromes
Polyglandular deficiency syndromes are hereditary disorders in which several endocrine glands (ie, glands that secrete hormones) malfunction together. Which of the following is the most appropriate treatment for these types of disorders? 
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