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

Erdeve S. S., AYCAN Z., BERBEROĞLU M., ŞIKLAR Z., Hacihamdioglu B., Sipahi K., ...Daha Fazla

EUROPEAN JOURNAL OF PEDIATRICS, cilt.169, sa.8, ss.991-995, 2010 (SCI-Expanded) identifier

  • 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, STEROID 5-ALPHA-REDUCTASE-2 DEFICIENCY, MALE PSEUDOHERMAPHRODITISM, TYPE-2 GENE, ANDROGENS, DIAGNOSIS, VILLAGE
  • Ankara Üniversitesi Adresli: Evet

Özet

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.