Steroidogenesi corticosurrenalica

Hershkovitz et al. (2008) reported 4 undervirilized males of an extended Bedouin family. One of these had been reported (Biason-Lauber et al., 1997) to carry mutations in the CYP17A1 gene (609300), encoding P450c17, causing isolated 17,20-lyase deficiency (202110). Gas chromatography-mass spectrometry (GC-MS) urinary steroid profiling and serum steroid measurements showed combined deficiencies of 17,20-lyase and 21-hydroxylase. Sequencing of exons 1 and 8 of CYP17A1 in 2 different laboratories showed no mutations. Sequencing of the POR gene showed that all 4 patients were homozygous for G539R (), which was shown by Huang et al. (2005) to retain 46% of normal 17-alpha-hydroxylase activity but only 8% of the 17,20-lyase activity of P450c17. Hershkovitz et al. (2008) conclude that POR deficiency can masquerade clinically as isolated 17,20-lyase deficiency.

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Steroidogenesi corticosurrenalica

steroidogenesi corticosurrenalica

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steroidogenesi corticosurrenalicasteroidogenesi corticosurrenalicasteroidogenesi corticosurrenalicasteroidogenesi corticosurrenalicasteroidogenesi corticosurrenalica