About gilbert-dreyfus syndrome

What is gilbert-dreyfus syndrome?

Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cell in how to use it.

Partial androgen insensitivity syndrome (pais) is part of a spectrum of syndromes that also includes androgen insensitivity syndrome (AIS) and mild androgen insensitivity syndrome (mais). In each case, the development of the reproductive and genital organs of the fetus is affected, as a result of the gene mutation.

During the first 10 weeks of pregnancy, the external anatomy of male and female embryos appears to be identical. The presence or absence of the male sex hormone testosterone determines whether male or female genitalia develop. In partial androgen insensitivity syndrome, the development of the external genitals will be intermediate between male and female (ambiguous genitalia).

Each of these forms of AIS is also a hereditary form of male pseudohermaphroditism, in which the baby is born with testes and possesses both male and female characteristics. The disorder is inherited as an X-linked, recessive trait.

What are the symptoms for gilbert-dreyfus syndrome?

  • Illness, such as a cold or the flu
  • Fasting or eating a very low-calorie diet
  • Dehydration
  • Menstruation
  • Stress
  • Strenuous exercise
  • Lack of sleep

Make an appointment with your doctor if you have jaundice, which has many possible causes.

What are the causes for gilbert-dreyfus syndrome?

An abnormal gene you inherit from your parents causes Gilbert's syndrome. The gene normally controls an enzyme that helps break down bilirubin in your liver. When you have an ineffective gene, your blood contains excess amounts of bilirubin because your body doesn't produce enough of the enzyme.

How the body normally processes bilirubin

Bilirubin is a yellowish pigment made when your body breaks down old red blood cells. Bilirubin travels through your bloodstream to the liver, where the enzyme breaks down the pigment and removes it from the bloodstream.

The bilirubin passes from the liver into the intestines with bile. It's then excreted in stool. A small amount of bilirubin remains in the blood.

How the abnormal gene is passed through families

The abnormal gene that causes Gilbert's syndrome is common. Many people carry one copy of this gene. In most cases, two abnormal copies are needed to cause Gilbert's syndrome.

What are the treatments for gilbert-dreyfus syndrome?

Gilbert's syndrome doesn't require treatment. The bilirubin levels in your blood may fluctuate over time, and you may occasionally have jaundice, which usually resolves on its own with no ill effects.

What are the risk factors for gilbert-dreyfus syndrome?

Although it's present from birth, Gilbert's syndrome usually isn't noticed until puberty or later, since bilirubin production increases during puberty. You have an increased risk of Gilbert's syndrome if:

  • Both your parents carry the abnormal gene that causes the disorder
  • You're male

Video related to gilbert-dreyfus syndrome