Classic congenital lipoid adrenal hyperplasia due to STAR deficency is a rare genetic disorder caused by a deficiency of the enzyme steroidogenic acute regulatory protein (STAR). This disorder affects the adrenal glands, which are responsible for producing hormones that regulate metabolism, the immune system, and other bodily functions. People with this disorder have an inability to produce cortisol, a hormone that helps the body respond to stress, and aldosterone, a hormone that helps regulate blood pressure. Symptoms of this disorder can include low blood pressure, low blood sugar, and poor growth. Treatment typically involves hormone replacement therapy.

The symptoms of classic congenital lipoid adrenal hyperplasia due to STAR deficiency include:

-Failure to thrive
-Low blood sugar (hypoglycemia)
-Salt wasting
-Low blood pressure (hypotension)
-Weakness
-Vomiting
-Dehydration
-Lethargy
-Muscle wasting
-Delayed puberty
-Enlarged adrenal glands
-Abnormal genitalia
-Abnormal fat distribution
-Abnormal facial features
-Developmental delay
-Seizures
-Hearing loss
-Vision problems
-Kidney problems

Classic congenital lipoid adrenal hyperplasia due to STAR deficiency is caused by a mutation in the gene that codes for the steroidogenic acute regulatory (STAR) protein. This protein is responsible for transporting cholesterol into the mitochondria of cells in the adrenal cortex, where it is used to produce steroid hormones. Without the STAR protein, the cells in the adrenal cortex cannot produce the necessary hormones, leading to a deficiency in cortisol, aldosterone, and other steroid hormones.

The primary treatment for classic congenital lipoid adrenal hyperplasia due to STAR deficiency is hormone replacement therapy. This involves replacing the missing hormones with synthetic hormones, such as hydrocortisone, to help regulate the body’s metabolism and other functions. In some cases, additional medications may be prescribed to help manage symptoms, such as anti-seizure medications or medications to help with weight gain. In some cases, surgery may be recommended to remove the adrenal glands. In addition, dietary modifications may be recommended to help manage symptoms.

1. Genetic mutation in the steroidogenic acute regulatory (STAR) gene
2. Family history of Classic congenital lipoid adrenal hyperplasia due to STAR deficency
3. Female gender
4. Premature birth
5. Low birth weight
6. Exposure to certain medications during pregnancy

Yes, there is a cure for classic congenital lipoid adrenal hyperplasia due to STAR deficiency. Treatment typically involves hormone replacement therapy (HRT) with glucocorticoids and mineralocorticoids, as well as androgen replacement therapy. Additionally, some patients may require enzyme replacement therapy with recombinant human steroidogenic acute regulatory (STAR) protein.