Article
Two brothers with non-classical 21-hydroxylase deficiency: to treat or not to treat?
Hormone research - 1 Jan 2004
Oberender F, Rumsby G, Perry L A, Savage M O
Abstract excerpt
Variations in phenotype in 21-hydroxylase deficiency (21OHD) have cautioned against initiating treatment in the absence of abnormal clinical features. We report 2 Caucasian brothers with compound heterozygous mutations of the CYP21 gene and mild clinical and biochemical features of late-presenting 21OHD. The index case presented aged 8.5 years with mild genital virilization and bone age advanced by 5 years....
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