[Rare forms of female pseudohermaphroditism: when to investigate?].

[aromatase deficiency]

The congenital adrenal hyperplasia is the commonest cause of ambiguity of the external genitalia at birth , due to classic forms of 21 -hydroxylase and 11 beta -hydroxylase deficiencies . 3 beta -hydroxysteroid dehydrogenase (3 betaHSD ) 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 deficiency is a rare disease characterized by a masculinized female fetus and a virilized mother , which should be considered in the absence of fetal adrenal hyperplasia and maternal androgen-secreting tumours . Finally , mutations of P 450 oxidoreductase causes disordered steroidogenesis with ambiguous genitalia . The investigation of abnormal sexual development requires an initial karyotype analysis and serum 17 OH progesterone , 11 deoxycortisol , 17 pregnenolone , and androgen measurements to assess the diagnosis of different forms of congenital adrenal hyperplasia .

Diseases
Validation

Diseases presenting "external genitalia" symptom

alpha-thalassemia

aromatase deficiency

congenital adrenal hyperplasia

megacystis-microcolon-intestinal hypoperistalsis syndrome

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