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INTRODUCTION
EPIDEMIOLOGY
PATHOPHYSIOLOGY
CLINICAL FEATURES
External genitalia
Virilizing forms of CAH; Classical 21-OHD CAH and 11β-hydroxylase deficiency
Internal genitalia
Postnatal effects and growth
Puberty
Gender role behavior
Fertility
Salt wasting in 21-OHD
Nonclassical 21-OHD
Other forms of congenital adrenal hyperplasia
11β-hydroxylase deficiency
3β-hydroxysteroid dehydrogenase deficiency
17α-hydroxylase/17,20 lyase deficiency
Lipoid hyperplasia
Cytochrome P450 oxidoreductase deficiency
GENETICS
CYP21A2
DIAGNOSIS
HORMONAL DIAGNOSIS
Prenatal Diagnosis and Prenatal Treatment
Prenatal Diagnosis of 21OHD
Preimplantation diagnosis
Prenatal Treatment
OUTCOME OF PRENATAL TREATMENT
Prenatal diagnosis and treatment of 11β-OHD CAH
TREATMENT
Hormone Replacement
Bone Mineral Density
Monitoring of therapy
Surgery
Other Treatment Strategies
CONCLUSION