Fertility In Men With Other Enzymatic Deficiencies In Steroid Synthesis

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CAH can also be caused by enzyme deficiencies other than 21-hydroxylase deficiency (see Fig. 1).

The first two enzymes in steroid synthesis (30-hydroxysteroid dehydrogenase and 17a-hydroxylase/17,20-lyase) and the intracellular cholesterol transport protein (StAR), are present in both adrenals and gonads. A deficiency of these enzymes or in the StAR protein leads to cortisol and aldosterone deficiency and insufficient gonadal production of sex steroids. In the male patient, this results in prenatal hypovirilization, depending on the degree of the enzyme deficiency, varying from hypospadias to inter-sex conditions.

11-Hydroxylase deficiency leads to cortisol deficiency and to aldosterone deficiency. Characteristically, patients have hypertension as a result of desoxycorticosterone (DOC) overproduction, which acts as mineralocorticoid. Because androgen production is increased and the clinical picture resembles 21-hydroxylase deficiency in some reports on male fertility in CAH, patients who are both 21-hydroxylase and 11-hydrox-ylase deficient have been included.

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