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

SAVAŞ ERDEVE, Şenay; Aycan, Zehra; Berberoglu, Merih; ŞIKLAR, ZEYNEP; Hacıhamdıoglu, Bulent; Sıpahı, Kadir; Akar, Nejat; Ocal, Gonul

doi:10.1007/s00431-010-1163-1

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

SAVAŞ ERDEVE Ş., Aycan Z., Berberoglu M., ŞIKLAR Z., Hacıhamdıoglu B., Sıpahı K., ...Daha Fazla

European Journal of Pediatrics, cilt.169, sa.8, ss.991-995, 2010 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 169 Sayı: 8
Basım Tarihi: 2010
Doi Numarası: 10.1007/s00431-010-1163-1
Dergi Adı: European Journal of Pediatrics
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.991-995
Anahtar Kelimeler: 5 alpha-reductase deficiency, SRD5A2 gene, Male pseudohermaphroditism, Gender assignment
Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

Molecular genetic characterization of mutations in SRD5A2 gene is used as an essential procedure for the final diagnosis of 5α-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 5α-reductase deficiency in various ethnic groups. We discussed some questions about gender assignment in addition to the molecular and clinical characteristics of the disease. © 2010 Springer-Verlag.