Question

what is going on in the internal genitals of an xy individual with Congenital Adrenal Hyperplasia?

Answer 1

Ans:

• Congenital Adrenal Hyperplasia (CAH) is a group of rare inherited autosomal recessive disorders characterized by a deficiency of one of the enzymes needed to make specific hormones. An enzyme deficiency will make the body unable to produce one or more of these hormones, which in turn will result in the over-production of another type of hormone precursor in order to compensate for the loss.
• The most common cause of CAH is the absence of the enzyme 21-hydroxylase. CAH due to 21-hydroxylase deficiency is responsible for 95% of all cases of CAH. There are other much rarer forms of CAH as well, including 11-Beta hydroxylase deficiency, 17a-hydroxylase deficiency, 3-Beta-hydroxysteroid dehydrogenase deficiency and congenital lipoid adrenal hyperplasia which all present different symptoms.
• Since the absence of 21-hydroxylase makes these individuals unable to make the hormone cortisol and the body produces more androgens which cause a variety of symptoms such as abnormal genital development in females. Females with severe or classic virilizing CAH due to 21-hydroxylase deficiency will most likely have ambiguous or atypical external genitalia (masculinization or virilization), although they are genetically female and will have normal internal reproductive organs. Males with this type of CAH will not have ambiguous genitalia.
• 11-Beta hydroxylase deficiency patients are presented with ambiguous genitalia in females. 17a-hydroxylase deficiency results in ambiguous external genitalia in males and lack of pubertal development or menstrual cycles (amenorrhea) in females. 3-Beta-hydroxysteroid dehydrogenase deficiency leads to ambiguous genitalia in males and females. Congenital lipoid adrenal hyperplasia may cause ambiguous genitalia in males and both males and females, if they survive, would likely be infertile.