Congenital Adrenal Hyperplasia
Signs and Symptoms
Elevated androgen production results to masculinization of the female fetus or an increase of the genital organ size in a male fetus. The process of masculinization begins as early as fetal life.
- Born with a clitoris so enlarged that it appears as penis
- Sinus between vagina and urethra is present
- Fused labia (ambiguous genitalia; the enlarged clitoris resembles that of an undescended testes and hypospadias)
- Precocious appearance of pubic and axillary hair and acne
- Epiphyseal line of the long bones closes early (prevents the child from reaching adult height unless treatment is initiated)
- No breast development or menstruation at puberty
- Appear normal at birth
- Signs of sexual precocity appear by 6 months of age
- Appearance of pubic hair by 4 years of age
- Enlargement of the penis, scrotum and prostate by 4 years of age
- Acne and a deep mature voice during childhood
- No spermatogenesis thus, the child is infertile
Children with congenital adrenal hyperplasia have increased levels of androgen which is an impartial point for the diagnosis. Determining the levels of other adrenal hormones which is the exact degree of the metabolic defect in production of the cortisol can be measured.
- A karyotype is essential in the evaluation of an infant with ambiguous genitalia to establish the patient’s chromosomal sex.
- The diagnosis of congenital adrenal hyperplasia depends on the demonstration of inadequate production of cortisol, aldosterone, or both in the presence of accumulation of excess concentrations of precursor hormones.
- Newborn screening programs for 21-hydroxylase deficiency
- Abnormal salt levels in blood and urine
- High levels of 17-OH progesterone
- High levels of serum DHEA sulfate
- High levels of urinary 17-ketosteroids
- Low levels of aldosterone and cortisol
- Normal or low urinary 17-hydroxycorticosteroids
- X-ray for bone age (shows older bones than normal for the person’s age)
- Chorionic villi sampling at 6-8 weeks of pregnancy to possibly identify the fetus with CAH during pregnancy
- Amniocentesis at 15 weeks age of gestation to possibly identify the fetus with CAH during pregnancy
- Oral hydrocortisone – both male and female infants are given with this corticosteroid agent to replace the hormones that they cannot produce naturally. Administration of corticosteroids decreases ACTH stimulation, thus, lowering the androgen level to normal limits and no further masculinization occurs.
- Periodic analysis of cortisol levels to evaluate the effectiveness of the therapy.
- Periodic growth measurement to evaluate the effectiveness of the therapy.
- Treatment of the mother with Dexamethasone (a corticosteroid), which crosses the placenta, can prevent the masculization of the fetus for the remainder of pregnancy.
- Girls with male-looking genitals will usually have surgery between ages 1 month – 3 months to correct the abnormal appearance.