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  • Title: 17-Hydroxylase/17,20 lyase deficiency diagnosed during childhood.
    Author: Wolthers OD, Rumsby G, Techatraisak K, Honour JW, Hindmarsh PC.
    Journal: Horm Res; 2002; 57(3-4):133-6. PubMed ID: 12006710.
    Abstract:
    We present a case of familial 17alpha-hydroxylase/17,20 lyase (CYP17) deficiency in which the index case, a 14-year-old XX girl, led to the diagnosis of the condition in a 9-year-old XY sister. No mutations in the CYP 17 gene were found in any of the girls.
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