What is Virilizing adrenal hyperplasia?

What is Virilizing adrenal hyperplasia?

Disease definition. The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting …

What does it mean to be a carrier of CAH?

People with a mutation in only one of the CAH-related genes do not have symptoms of CAH. But they’re called CAH carriers because they can pass the CAH-causing gene to their children. The genetic pattern through which CAH passes from parents to children is called autosomal recessive.

What is simple Virilizing CAH?

Simple virilizing CAH is the moderate form of classic 21-hydroxylase deficiency. This type of CAH involves less severe aldosterone deficiency. Therefore, there are no severe or life-threatening sodium-deficiency symptoms in newborns.

Why does CAH make you vomit?

People who have classic CAH are at risk of adrenal crisis because they have very low levels of cortisol in the blood. This can cause diarrhea, vomiting, dehydration, low blood sugar levels and shock.

Can a woman with CAH get pregnant?

Women with classic CAH can conceive while on routine maintenance therapy, and it is estimated that 80% and 60% of women with simple-virilising and salt-wasting forms of CAH, respectively, are fertile. Most women who are compliant with maintenance therapy have ovulation rates as high as 40%.

Can you get pregnant with CAH?

Can CAH cause weight gain?

Many people with CAH, women in particular, have a battle to avoid gaining weight. Mostly, weight gain in CAH is a side effect of treatment with hydrocortisone, prednisolone or dexamethasone and to a lesser extent, the oral contraceptive pill if used. Short stature and depression can also make weight gain more likely.

Can you have CAH not know?

Non-classic or late-onset CAH – individuals with this “mild” form often do not even know that they have it until something triggers an investigation by medical professionals. Individuals make too many androgens but much less than in the classic forms; they do not have problems with salt wasting.

How do you confirm CAH?

Tests used to diagnose CAH in fetuses include:

  1. Amniocentesis. This procedure involves using a needle to withdraw a sample of amniotic fluid from the womb and then examining the cells.
  2. Chorionic villus sampling. This test involves withdrawing cells from the placenta for examination.
  3. Maternal blood test.