Doctor insights on:
Acquired Adrenal Hyperplasia
CAH?: Do you mean congenital adrenal hyperplasia? There are adult forms of this. It occurs when there is an enzyme defect in adrenal steroid synthesis such that excess adrenal androgens are made. In extreme cases, female babies are born with male-like genitalia. In mild forms, it looks like pcos in adulthood. Treatment can be complicated, and should be by an endocrinologist (medicine or gyn). ...Read more
My baby has taken two test one showed he didn t have congential adrenal hyperplasia and the other should he actually did what I should I do?
Depends on situation: The first screening test done at a day or so can be falsely positive. The second screening test done at a week or later is more accurate. There are specific tests that can be done on the blood to sort out confusing results & are usually done with the aid of a metabolic specialist or pediatric endocrinologist. ...Read more
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. ...Read moreSee 2 more doctor answers
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... ...Read moreSee 1 more doctor answer
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. ...Read moreSee 1 more doctor answer
Hormone imbalance: Deficiency of 21 hydroxylase enzyme results in reduced synthesis of gluco- and mineralo- corticoids and excess production of male sex hormones. There is not way to "fight" the disease, but it can be treated with glucocorticoids, e.g., predinisolone. The defect causes virilization in girls an pre-mature puberty in boys. ...Read more
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. ...Read more
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. ...Read moreSee 1 more doctor answer
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