Abstract
We analyzed the molecular genetics and biochemistry of 5α-reductase 2 (5α-RD 2) deficiency in 7 patients with male pseudohermaphroditism. The diagnosis of 5α-RD 2 was established by clinical data (all patients were born with ambiguous genitalia-microphallus, perineal hypospadias and bifid scrotum and were raised as females until 6-15 y when they phange to male gender) and by T/DHT ratio over normal in basal condition in pospubertal cases or after hCG in prepubertal cases. (Normal basal T/DHT ratio=14±5.2; after hCG=13.8± 3.5). The 5 exons of the 5α-RD 2 gene were amplified by polymerase chain reaction (PCR) using exons-specific pairs of oligonucleotides, with a termocycler program of 35 cycles of 1 min./94°C, 3 min./68°C. The mutations and the presence of homozygosity or compound heterozygosity were detected by SSCP analyses and the DNA sequences of the putative mutations were determined by PCR sequencing.
We found four different mutations in our patients. These results confirm the genetic heterogeneity of the 5α-RD 2. We conclude that in all patients studied mutations in type 2 gene account for 5α-reductase 2 deficiency.
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Mendonça, B., Arnhold, I., Bloise, W. et al. 28 MOLECULAR ANALYSES OF STYEROID 5αREDUCTASE 2 GENE IN MALE PSEIDOHERMAPHRODITES. Pediatr Res 36, 682 (1994). https://doi.org/10.1203/00006450-199411000-00086
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DOI: https://doi.org/10.1203/00006450-199411000-00086