A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency.

摘要: Steroid 5α-reductase deficiency is a rare autosomal recessive disorder caused by mutations in the SRD5A2-gene, resulting diminished dihydrotestosterone (DHT) formation and, hence, severe virilization deficit of external genitalia patients with 46,XY karyotype. The phenotype affected individuals variable and has been reported to range from completely female over genital ambiguity normal male, depending on type mutation its effect enzyme activity. Here we report an adolescent patient predominantly appearance, who had gonadectomized early infancy. Genital status revealed urogenital sinus equivalent Prader stage III. Molecular genetic analysis demonstrated homozygous point exon 2 leading premature termination codon position 111 enzyme, not allowing functional enzyme. This case demonstrates that even despite complete loss function 2, marked possible, most likely result testosterone (T) during foetal life.