Congenital Adrenal Hyperplasia – Clinical Features|Diagnosis|Management

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) comprises a group of inherited disorders of synthesis of adrenal steroids. Each member of the group arises from a deficiency of one of the enzymes normally necessary for production of steroids.

Adrenal gland produces three main types of hormones

1. Mineralocorticoids (aldosterone)

2. Glucocorticoids (cortisol)

3. Sex hormones (estrogen and testosterone)

Pituitary controls synthesis of adrenal steroids through adrenocorticotropine hormone (ACTH). In an enzymatic block in any variety of CAH, cortisol synthesis is decreased which impairs ACTH secretion control.

Due to which, there is excess production of ACTH followed by excess production of adrenal steroids.

Clinical features occur because of

• Reduction or absence of hormones blocked by enzyme deficiency.
• Accumulation of excess hormonal products.

Two common varieties of CAH are seen

• 21-hydroxylase deficiency

• 11-beta-hydroxylase deficiency

Since cortisol is not produced in adequate quantity- unchecked ACTH production causes increased secretion of sex hormones. Therefore, most prominent feature due to over-secreted adrenal hormones during fetal life leads to masculinization of external genitalia in female fetus.

Female child is born with an enlarged clitoris and fusion of labia. Very rarely, even female urethra may become penile.
Boys with CAH do not have anomaly of external genitalia at birth, but they have early onset of puberty and advanced osseous maturation. Early closure of epiphysis leads to short stature.

Other features seen are

• It may be Due to aldosterone deficiency- seen as salt losing form of CAH.
• It May present with severe vomiting and vascular collapse.
• Some cases manifest in later childhood with menstrual irregularities, acne, and hirsutism and are termed as “late onset” type of CAH.

Diagnosis of Congenital Adrenal Hyperplasia

• Prenatal diagnosis of CAH can be done by estimation of 17-keto-steroids, 17-OPH in amniotic fluid.
• Neonatal screening can be performed by heel prick blood 17-OPH examination.

Management of Congenital Adrenal Hyperplasia

1. Glucocorticoids are mainstay of treatment since these replace the deficient cortisol and suppress ACTH secretion.
2. Excess doses should be avoided to prevent Cushing’s syndrome features and growth retardation.
3. Hydrocortisone is preferred steroid.
4. During periods of stress such as infection and surgery, hydrocortisone should be given parentrally.
5. Children with salt wasting require increased salt intake and mineralocorticoid.
6. Feminizing genitoplasty is done in a staged manner.
7. Feminizing genitoplasty- enlarged clitoris is resected within 1st year. Menarche occurs at appropriate age in most girls in whom good control is achieved. Vaginoplasty if necessary is undertaken at around adolescence or before marriage.

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