Key result
Male carriers of HypoPP mutations exhibited 100% penetrance and 50-150 attacks/year, whereas female carriers showed only 28.57% penetrance and 30-50 attacks/year.
Why the study?
Are there gender differences in penetrance and phenotype in hypokalemic periodic paralysis?
Observational (n=15)
Are there gender differences in penetrance and phenotype in hypokalemic periodic paralysis?
Absolute Event Rate: 100% vs 28.57%
Hypokalemic periodic paralysis exhibits significant gender differences, with men experiencing higher penetrance and attack frequencies than women.
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May inform sex-specific counseling in HypoPP; leaves open prospective validation of penetrance estimates.
Ke et al. (2012) conducted an observational in Hypokalemic periodic paralysis (HypoPP) (n=15). Male sex vs. Female sex was evaluated on Penetrance. Male carriers of HypoPP mutations exhibited 100% penetrance and 50-150 attacks/year, whereas female carriers showed only 28.57% penetrance and 30-50 attacks/year.
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