In one study of 81 children with ambiguous genitalia, only 2 were found to have 3-beta–hydroxysteroid dehydrogenase deficiency. [10] The incidence is higher in some populations; 3-beta–hydroxysteroid dehydrogenase deficiency is relatively common in the Old Order Amish in North America associated with a HSD3B2 c.35G, a founder mutation. [11] Patients with complete 3-beta–hydroxysteroid dehydrogenase deficiency are at risk for acute adrenal insufficiency when ill. Patients and their families should be instructed in the use of stress doses of glucocorticoids for acute illness (eg, temperature ≥101°F) or major trauma. If medication can be taken orally, the patient should double or triple the usual dose of glucocorticoid for 3 days. Mineralocorticoid doses do not need to be increased. If the patient cannot take the medication orally because of vomiting, altered state of consciousness, or surgery, parenteral glucocorticoids, preferably hydrocortisone, should be administered. Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.
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