Enzyme Deficiency | Presentation | Laboratory Findings | Therapeutic Measures |
Lipoid CAH (StAR or P450scc) | Salt-wasting crisis | Low/absent levels of all steroid hormones | Glucocorticoid and mineralocorticoid replacement,
salt supplementation |
Male pseudohermaphroditism | Decreased/absent response to ACTH |
Decreased/absent response to hCG
in male pseudohermaphroditism | Estrogen replacement at age Å 12 years |
Gonadectomy of male pseudohermaphrodite and
salt supplementation |
↑ ACTH and PRA |
3β-HSD | Salt-wasting crisis | ↑δ5 Steroids before and
after ACTH | Glucocorticoid and mineralocorticoid replacement |
Male and female pseudohermaphroditism | ↑Δ5/Δ4 Serum
steroids | Salt supplementation |
Suppression of elevated adrenal steroids after
glucocorticoid administration | Surgical correction of genitalia |
Sex hormone replacement as necessary |
↑ ACTH and PRA |
P450c17 | Male pseudohermaphroditism | ↑ DOC, 18-OHDOC,
corticosterone, 18-hydroxycorticosterone | Glucocorticoid administration |
Sexual infantilism | Surgical correction of genitalia and sex steroid
replacement in male pseudohermaphroditism consistent with sex of rearing |
Hypertension | Low 17α-hydroxylated steroids and poor response
to ACTH |
Poor response to hCG in male pseudohermaphroditism | Estrogen replacement in female at Å 12 years |
Testosterone replacement if reared as male (rare) |
Suppression of elevated adrenal steroids after glucocorticoid
administration |
↑ ACTH and ↓ PRA;
Hypokalemia |
P450c21 | Classic form: | ↑ 17OHP before and after ACTH | Glucocorticoid and mineralocorticoid replacement |
Salt-wasting crisis. female, pseudohermaphroditism | ↑ Serum androgens and urine 17KS | Salt supplementation |
Suppression of elevated adrenal steroids after glucocorticoid
Rx | Surgical repair of female pseudohermaphroditism |
Pre- and postnatal virilization |
Nonclassic form: | ↑ ACTH and PRA |
Premature adrenarche, menstrual irregularity, hirsutism,
acne, infertility |
P450c11 | Female pseudohermaphroditism | ↑ 11-Deoxycortisol and DOC before and after ACTH | Glucocorticoid administration |
Postnatal virilization in males and females | ↑ Serum androgens and urine 17KS | Surgical repair of female pseudohermaphroditism |
Suppression of elevated steroids after glucocorticoid administration |
↑ ACTH and ↓ PRA;
Hypokalemia |
P450c11AS | Failure to thrive | Hyponatremia, hyperkalemia | Mineralocorticoid replacement |
Weakness | ↑ Corticosterone | Salt supplementation |
Salt loss | ↓ Aldosterone ↑ PRA |
P450c17 | Male pseudohermaphroditism | ↑ DOC, 18-OHDOC, corticosterone,
18-hydroxycorticosterone | Glucocorticoid administration |
Sexual infantilism | Surgical correction of genitalia and sex steroid
replacement in male pseudohermaphroditism consistent with sex of rearing |
Hypertension | Low 17α-hydroxylated steroids
and poor response to ACTH |
Poor response to hCG in male pseudohermaphroditism | Estrogen replacement in female at > 12 years |
Testosterone replacement if reared as male (rare) |
Suppression of elevated adrenal steroids after glucocorticoid
administration |
↑ ACTH and ↓ PRA;
Hypokalemia |
POR | Male & female pseudohermaphroditism | ↑ ... |