1:15, 000. Cah is found in 1 of every 15, 000 live births.
Enzyme deficiency. Deficiency of 21 hydroxylase enzyme needed for synthesis of gluco- and mineralo-corticoids causes excessive production of sex hormones, mainly male sex hormones. The result is endocrine disturbance in both boys and girls and virilization in girls.
Enzyme defeciency. This disease results from deficiency of an enzyme, 21 hydroxylase, that is essential for synthesis of adrenal hormones. Block in the synthesis of glucoroticoids causes excess production of male sex hormones. See this site for more information. Http://www. Ncbi. Nlm. Nih. Gov/pubmedhealth/pmh0001448/.
Forever. This is a lifelong genetic issue. Medication & monitoring can decrease the impact on one's life, but it is not like a pneumonia, it doesn't go away after treatment.
ADRENAL HYPERPLASIA. Serum levels of 17-hydroxy progesterone, cortisol, corticosterone, Progesterone are low and dhea, androstenedione are high.
CAH testing. State newborn screening measures 17-oh progesterone. If elevated, this could mean cah in the newborn. 21 hydroxylase deficiency causing elevation in 17- ohp is the most common cause of cah. With infants this is usually associated with salt wasting. Aldosterone & cortisol are low. Acth will be high given low cortisol. Girls usually have ambiguous genitalia. Peds endo cares for kids w/cah.
Gene Mutation. A mutated form of the enzyme blocks the normal production of adrenal hormoes and causes excess production of male sex hormones on both male and female fetuses and babies.
Gene mutation. A mutated form of the enzyme blocks the normal production of adrenal hormoes and causes excess production of male sex hormones on both male and female fetuses and babies.
Missing enzyme. There are different types. They all involve a deficiency of an enzyme needed in cortisol production. Since the pituitary senses there isn't enough cortisol, it keeps trying to make the adrenals make cortisol. But because that enzyme is missing, the building blocks of cortisol build up. These substances get turned into androgens - male hormones - and cause abnormalities in sexual development.
CUSHING's SYNDROME. Sx are moonface, truncal obesity, buffalo hump, slender extremities and fingers, striae of the abdomen, easy bruising and menstrual disorder secondary to elevated corticosteroids.
Classic or non? Classic cah is diagnosed mostly on newborn screening. It results from a block in the synthesis of cortisol and usually also aldosterone. Females will often have ambiguous genitalia. Males don't look different. Permanent replacement with Hydrocortisone & Fludrocortisone (may not need past childhood) are needed for sustaining life and salt balance. Pediatric endocrinologists follow very closely.
Yes. Persons with the most common form congenital adrenal hyperplasia (cah) have a predisposition to making extra testosterone. For girls this can manifest as genitalia that is "masculinized" before birth and therefore "ambiguous" at the time of birth. Girls can also have somewhat masculinized behaviors. The testosterone levels can be lowered by therapy. Boys do not have genital or behavioral issues.
CAH. This is due to the lack of an enzyme needed for the adrenals to make cortisol and aldosterone. The body then uses the precursors to make androgen (male hormones) instead. Symptoms for girls: deep voice, abnormal menstruation, early appearance of pubic/armpit hairs, genitials looking both male and female...For boys: deep voice, enlarged penis, small testes, early appearance of pubic, armpit hair...
CAH symptoms. In females, it depends on whether it's classical or not. In classicals there is more severe early onset salt wasting and genital ambiguity. Much more common late onset non-classicals with lesser adrenal enzyme deficiencies have excessive hair growth, virilization, oligomenorrhea, and/or inferlility.
Yes. These people have a gene that makes it hard to make the necessary hormone cortisol, and the molecules get shunted into producing masculinizing hormones instead. The adrenals are big. In mild cases, it simply produces extra body hair in women. In severe cases, a little girl's genitals are ambiguous from birth, or a little boy reaches puberty at a very early age.