A novel mutation of 5 alpha-steroid reductase 2 deficiency (CD 65 ALA-PRO) with severe virilization defect in a Turkish family and difficulty in gender assignment

作者：Erdeve Senay Savas^*; Aycan Zehra; Berberoglu Merih; Siklar Zeynep; Hacihamdioglu Bulent; Sipahi Kadir; Akar Nejat; Ocal Gonul

来源：European Journal of Pediatrics, 2010, 169(8): 991-995.

DOI：10.1007/s00431-010-1163-1

• 5 alpha-reductase deficiency
• SRD5A2 gene
• Male pseudohermaphroditism
• Gender assignment

Molecular genetic characterization of mutations in SRD5A2 gene is used as an essential procedure for the final diagnosis of 5 alpha-reductase deficiency. Here, we report a novel homozygous point mutation of SRD5A2 gene at codon 65 in exon 1, due to a proline for alanine substitution in a Turkish family whose proband has severe undervirilization. This mutation has not been reported up to date in association with 5 alpha-reductase deficiency in various ethnic groups. We discussed some questions about gender assignment in addition to the molecular and clinical characteristics of the disease.

• 出版日期2010-8