X-linked adrenal hypoplasia congenita

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X-linked adrenal hypoplasia congenita (pronunciation: eks-linkt ad-ree-nal hy-po-pla-zia kon-jen-i-ta) is a rare genetic disorder characterized by adrenal insufficiency and hypogonadotropic hypogonadism.

Etymology

The term "X-linked" refers to the fact that the disorder is inherited in an X-linked recessive manner. "Adrenal hypoplasia" refers to underdevelopment or incomplete development of the adrenal glands. "Congenita" is derived from Latin, meaning "present from birth".

Definition

X-linked adrenal hypoplasia congenita is a disorder that primarily affects males. It involves many endocrine tissues, especially the adrenal glands and the hypothalamic-pituitary-gonadal axis. The condition is caused by mutations in the NR0B1 gene, which provides instructions for making a protein that is critical for normal development and function of several hormone-producing tissues.

Symptoms

Symptoms of X-linked adrenal hypoplasia congenita can include adrenal insufficiency, which can cause weakness, fatigue, low blood sugar (hypoglycemia), and a decreased ability to respond to stressors such as illness or injury. Affected males typically have hypogonadotropic hypogonadism, which is a condition that causes a delay in or absence of sexual development.

Diagnosis

Diagnosis of X-linked adrenal hypoplasia congenita is based on clinical symptoms, family history, and genetic testing. The genetic testing can identify mutations in the NR0B1 gene.

Treatment

Treatment for X-linked adrenal hypoplasia congenita typically involves hormone replacement therapy to replace the hormones that the adrenal glands are unable to produce. This can include corticosteroids and mineralocorticoids.

See also

External links

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