This Article Full Text Full Text (PDF) Submit a related Letter to the Editor Purchase Article View Shopping Cart Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Nordenskjöld, A. Articles by Ivarsson, S.-A. Search for Related Content PubMed PubMed Citation Articles by Nordenskjöld, A. Articles by Ivarsson, S.-A.

Molecular Characterization of 5-Reductase Type 2 Deficiency and Fertility in a Swedish Family¹

Department of Molecular Medicine, Clinical Genetics Unit and Pediatric Surgery (A.N.), Karolinska Hospital/St. Görans Hospital, Stockholm; and Department of Pediatrics (S.-A.I.), University of Lund, University Hospital, Malmö, Sweden

Address all correspondence and requests for reprints to: A. Nordenskjöld, Department of Molecular Medicine, CMM 02, Karolinska Hospital, S-171 76 Stockholm, Sweden. E-mail: agneta.nordenskjold{at}cmm.ki.se

The molecular background of 5-reductase type 2 deficiency was investigated in a Swedish family with no known consanguinity and in which the affected males were fertile. The three male siblings were born with ambiguous external genitalia, and the diagnosis of 5-reductase deficiency was established at the ages of 16, 14, and 10 yr, respectively. All three siblings underwent surgery for hypospadias repair. At least two of the brothers are demonstrably fertile. Molecular analysis showed the three brothers to be compound heterozygotes, carrying two different mutations in exon 4 of the 5-reductase type 2 gene. The two mutations (G196S and H231R) have been described previously and reported to give rise to partially functioning enzymes, which may explain the milder phenotype and perhaps the fertility in the preset three patients.

This article has been cited by other articles:

				F. Baldinotti, S. Majore, A. Fogli, G. Marrocco, P. Ghirri, M. Vuerich, S. Tumini, B. Boscherini, M. Vetri, S. Scommegna, et al. Molecular Characterization of 6 Unrelated Italian Patients With 5{alpha}-Reductase Type 2 Deficiency J Androl, January 1, 2008; 29(1): 20 - 28. [Abstract] [Full Text] [PDF]

				H. T. T. Thai, M. Kalbasi, K. Lagerstedt, L. Frisen, I. Kockum, and A. Nordenskjold The Valine Allele of the V89L Polymorphism in the 5-{alpha}-Reductase Gene Confers a Reduced Risk for Hypospadias J. Clin. Endocrinol. Metab., December 1, 2005; 90(12): 6695 - 6698. [Abstract] [Full Text] [PDF]

				M. Fernandez-Cancio, M. Nistal, R. Gracia, M. A. Molina, J. A. Tovar, C. Esteban, A. Carrascosa, and L. Audi Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin J Androl, May 1, 2004; 25(3): 412 - 416. [Abstract] [Full Text] [PDF]