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DOI: 10.1590/S0004-27302005000100017
The congenital adrenal hyperplasia is the commonest cause of ambiguity of the external genitalia at birth, due to classic forms of 21-hydroxylase and 11b-hydroxylase deficiencies. 3b-hydroxysteroid dehydrogenase (3bHSD) is a rare disorder that affects both sexes and female patients may have ambiguous genitalia. Familial glucocorticoid resistance is characterized by increased cortisol secretion without clinical evidence of hypercortisolism, but with manifestations of androgen and mineralocorticoid excess, caused by glucocorticoid receptor gene mutation, and rarely can lead to female pseudohermaphroditism. Placental aromatase […]
Keywords: 11beta-hydroxylase; 21-hydroxylase; 3beta-hydroxysteroid dehydrogenase; Aromatase; Familial glucocorticoid resistance; Female pseudohermaphrodism; P450 oxidoreductase