17-beta-hydroxysteroid dehydrogenase deficiency epidemiology and demographics

Although the precise incidence of 17βHSD-3 deficiency is unknown, a recent study from the Netherlands estimated the incidence around 1 in 147,000 newborns, with a calculated heterozygote frequency of 1 in 135.

• In the Netherlands, 17-beta-hydroxysteroid dehydrogenase deficiency is estimated to occur 1:147.000 newborns.
• 17βHSD3 deficiency may show increased frequencies among populations with a high intermarriage rate such as in Gaza, among whom intermarriage is frequent, the incidence is 1 in 200 to 300 people.
• The incidence of 17betaHSD3 deficiency is 0.65 times the incidence of AIS, which is thought to be the most frequent known cause of male pseudohermaphroditism without dysgenic gonads.^[1]

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