Congenital adrenal hyperplasia is an inherited disorder that
results in low levels of cortisol and high levels of male hormones
, causing development of male characteristics in females, and early puberty in both boys and girls.
What does 11b hydroxylase do?
Mutations in the CYP11B1 gene cause CAH due to 11-beta-hydroxylase deficiency. The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme is found in the adrenal glands, where it
helps produce hormones called cortisol and corticosterone
.
What does 17 alpha hydroxylase do?
The enzyme has 17 alpha(α)-hydroxylase activity, which is
important for production of glucocorticoids and sex hormones
. CYP17A1 also has 17,20-lyase activity, which is integral to the production of sex hormones. 17α-hydroxylase/17,20-lyase deficiency results from a shortage (deficiency) of both enzyme activities.
What is the role of 21 alpha hydroxylase?
The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. This enzyme is found in the adrenal glands, where it plays a role in
producing hormones called cortisol and aldosterone
.
What does the cyp17 gene do?
The CYP17A1 gene provides instructions for making a member of the cytochrome P450 enzyme family. Like other cytochrome P450 enzymes, CYP17A1 is involved
in the formation (synthesis) of steroid hormones
.
Can someone with CAH have children?
With the recommended hormone treatment and close follow-up with a pediatric endocrinologist,
children with CAH can grow and develop like other children
. In adulthood, most will be able to have children of their own.
What happens if CAH is left untreated?
Left untreated,
the adrenal glands produce too much of chemicals called androgen
, which produce male sex traits. Early detection and treatment can help children with CAH to have normal and healthy development. There are some other rare forms of CAH.
Does congenital adrenal hyperplasia cause high blood pressure?
[5] Elevated blood pressure in CAH patients may be caused both by
glucocorticoid and mineralocorticoid therapy
, as glucocorticoid as well as mineralocorticoid excess is known to result in high blood pressure.
How does adrenal hyperplasia cause hypertension?
11β-OH CAH results in hypertension due
to excessive mineralocorticoid effects
. It also causes excessive androgen production both before and after birth and can virilize a genetically female fetus or a child of either sex.
What would happen in complete 21-hydroxylase deficiency?
21-Hydroxylase (CYP21A2) deficiency causes
defective conversion of adrenal precursors to cortisol and, in some cases, to aldosterone
, sometimes resulting in severe hyponatremia. Common causes include diuretic use, diarrhea, heart failure, liver… read more and hyperkalemia.
What are the symptoms of 21 hydroxylase deficiency?
- Puberty starting in childhood (precocious puberty)
- Excessive hair growth.
- Acne.
- Shorter than average adult height.
- Reduced fertility.
- Irregular periods (females)
- Testicular enlargement and testicular tumors (males)
What is the life expectancy of someone with congenital adrenal hyperplasia?
Mean age of death was 41.2 ± 26.9 years in patients with CAH and 47.7 ± 27.7 years in controls
(P < . 001). Among patients with CAH, 23 (3.9%) had deceased compared with 942 (1.6%) of controls. The hazard ratio (and 95% confidence interval) of death was 2.3 (1.2–4.3) in CAH males and 3.5 (2.0–6.0) in CAH females.
Can you have CAH and not know it?
Often there are
no symptoms of nonclassic CAH when a baby is born
. The condition is not identified on routine infant blood screening and usually becomes evident in late childhood or early adulthood. Cortisol may be the only hormone that’s deficient.
What is P450c17 enzyme deficiency?
Context: The characteristics of P450c17 deficiency include
46,XY disorder of sex development, hypertension, hypokalemia, and lack of pubertal development
. Objective: To better understand this rare enzymatic deficiency, we analyzed the CYP17A1 gene in six affected patients.
What is P450c17?
P450c17 is the
key enzyme that regulates androgen synthesis
. It is the only enzyme known to have the capacity to convert C21-precursors to the androgen pre-hormones, the 17-ketosteroids. It is a single enzyme with two activities, 17-hydroxylase and 17,20-lyase.
Are androgens hormones?
Androgens are
hormones that contribute to growth and reproduction in both men and women
. Androgens are usually thought of as male hormones, but the female body naturally produces a small amount of androgens too.
