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ALL / Endocrinology
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders that impair adrenal steroid biosynthesis. The deficiency in cortisol production leads to compensatory overproduction of adrenocorticotropic hormone (ACTH) by the anterior pituitary. Elevated ACTH levels increase the production of adrenal androgens, which can result in the virilization of female infants and affect genital development.Cause
- 21-hydroxylase deficiency (90%)
- impairs the conversion of 17-hydroxyprogesterone to 11-deoxycortisol, leading to cortisol deficiency and excess androgen production
- 11-beta hydroxylase deficiency (5%)
- results in hypertension due to excess deoxycorticosterone
- 17-hydroxylase deficiency (very rare)
- leads to mineralocorticoid excess with low androgen and estrogen levels
Clinical features
- the symptoms and signs of CAH vary depending on the specific enzyme deficiency and the severity of the disorder. Common clinical presentations include:
- virilization:
- female infants may present with ambiguous genitalia due to excessive androgen exposure in utero.
- male infants appear normal at birth, which can delay diagnosis.
- salt-wasting crisis:
- this severe form occurs in about 75% of cases with 21-hydroxylase deficiency
- it is characterized by dehydration, hypotension, and electrolyte imbalances, and can be life-threatening if not treated promptly.
- precocious puberty: Excess androgens can lead to early development of secondary sexual characteristics in both males and females.
- infertility: Adults with untreated CAH may experience fertility issues due to hormonal imbalances.
- height and growth abnormalities: Children with CAH often experience accelerated growth rates initially but may have a shorter adult stature due to early epiphyseal closure.
Diagnosis
- many countries screen newborns for CAH, looking for elevated levels of serum concentration of 17-hydroxyprogesterone (17OHP). This is however not yet done in the UK
- ACTH stimulation testing is used to confirm the diagnosis
- evaluates the adrenal gland's response to ACTH, with abnormal increases in 17OHP indicating CAH
Management
- primarily involves glucocorticoid replacement to reduce ACTH levels and minimize adrenal androgen production
- in cases of mineralocorticoid deficiency fludrocortisone is also prescribed
+PassMedicine Notes
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders that impair adrenal steroid biosynthesis. The deficiency in cortisol production leads to compensatory overproduction of adrenocorticotropic hormone (ACTH) by the anterior pituitary. Elevated ACTH levels increase the production of adrenal androgens, which can result in the virilization of female infants and affect genital development.
Cause- 21-hydroxylase deficiency (90%)
- impairs the conversion of 17-hydroxyprogesterone to 11-deoxycortisol, leading to cortisol deficiency and excess androgen production
- 11-beta hydroxylase deficiency (5%)
- results in hypertension due to excess deoxycorticosterone
- 17-hydroxylase deficiency (very rare)
- leads to mineralocorticoid excess with low androgen and estrogen levels
- the symptoms and signs of CAH vary depending on the specific enzyme deficiency and the severity of the disorder. Common clinical presentations include:
- virilization:
- female infants may present with ambiguous genitalia due to excessive androgen exposure in utero.
- male infants appear normal at birth, which can delay diagnosis.
- salt-wasting crisis:
- this severe form occurs in about 75% of cases with 21-hydroxylase deficiency
- it is characterized by dehydration, hypotension, and electrolyte imbalances, and can be life-threatening if not treated promptly.
- precocious puberty: Excess androgens can lead to early development of secondary sexual characteristics in both males and females.
- infertility: Adults with untreated CAH may experience fertility issues due to hormonal imbalances.
- height and growth abnormalities: Children with CAH often experience accelerated growth rates initially but may have a shorter adult stature due to early epiphyseal closure.
- many countries screen newborns for CAH, looking for elevated levels of serum concentration of 17-hydroxyprogesterone (17OHP). This is however not yet done in the UK
- ACTH stimulation testing is used to confirm the diagnosis
- evaluates the adrenal gland's response to ACTH, with abnormal increases in 17OHP indicating CAH
- primarily involves glucocorticoid replacement to reduce ACTH levels and minimize adrenal androgen production
- in cases of mineralocorticoid deficiency fludrocortisone is also prescribed
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