• PMID: 9745434
• Gene Name: SRD5A2
• Condition: Hypospadias, ambiguous external genitalia
• Association: Associated
• Population size: 3
• Population details: 3 siblings born with ambiguous external genitalia
• Age: 3 (16, 14, and 10 yrs)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: 5 alpha-reductase type 2
• Other associated phenotypes: Hypospadias, ambiguous external genitalia

Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family

Nordenskjöld A, Ivarsson SA.

The molecular background of 5 alpha-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 alpha-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 alpha-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. FAU - Nordenskjöld, A AU - Nordenskjöld A AD - Department of Molecular Medicine, Karolinska Hospital/St. Görans Hospital, Stockholm, Sweden. agneta.nordenskjold@cmm.ki.se