lipoid congenital adrenal hyperplasia

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What is Lipoid Congenital Adrenal Hyperplasia?

Lipoid congenital adrenal hyperplasia (LCAH), caused by harmful genetic changes (mutations) in the STAR gene, is an inherited condition that makes the body unable to produce important hormones. Specifically, these hormones come from the gland located above the kidneys (adrenal) and testes or ovary (gonadal). LCAH is the most severe form of congenital adrenal hyperplasia. Individuals with LCAH can have different levels of hormone deficiencies, ranging from a classic, severe form of the disease to a milder, non-classic form.

Classic

The severe, classic form of the condition occurs when there is little to no hormone produced. While the onset of symptoms can be variable, affected individuals usually experience episodes in early infancy where the body cannot retain salt, leading to dehydration and other complications that can be life-threatening (known as "salt-wasting crises"). In addition, individuals may also experience weakness, poor feeding, and/or darkened (hyperpigmented) skin. Almost all affected individuals have female genitalia regardless of genetic sex, and some have been described with neurological abnormalities.

Non-Classic

The less severe, non-classic form of the conditions occurs when there is still residual hormone production. However, this does not prevent salt-wasting crises. Although there have only been a handful of cases, individuals with non-classic LCAH seem to present in infancy or early childhood. The condition has been described as a form of non-autoimmune Addison disease. The improper adrenal function can result in darkening of skin (hyperpigmentation), low blood sugar (hypoglycemia), vomiting, and other symptoms.

How common is Lipoid Congenital Adrenal Hyperplasia?

LCAH has been reported in many ethnic groups, but the global incidence is unknown. It has been repeatedly seen in the Japanese, Korean, Palestinian, Saudi Arabian, and Swiss populations.

How is Lipoid Congenital Adrenal Hyperplasia treated?

Currently, there is no cure for LCAH. However, hormone replacement therapy is indicated for affected individuals, and early, consistent adherence to medication may extend the lifespan into adulthood. A multidisciplinary team of physicians, including an endocrinologist, will likely monitor the medication dosage, medication side effects, growth, and development (both general and sexual) of patients who continue to receive treatment.

What is the prognosis for an individual with Lipoid Congenital Adrenal Hyperplasia?

In the absence of any interventions or treatment, LCAH is typically fatal in early infancy; however, with treatment affected individuals have survived to adulthood.