Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism / 亚洲男科学杂志(英文版)

<p><b>AIM</b>To identify the genotype of two Indians with male pseudohermaphroditism.</p><p><b>METHODS</b>Standard radioimmunoassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of primers and reaction conditions specific for the 5alpha-reductase type 2 gene (SRD5A2) gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus.</p><p><b>RESULTS</b>We found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with pseudohermaphroditism and ambiguous genitalia from unrelated families. This is the first time this mutation has been reported in individuals from India.</p><p><b>CONCLUSION</b>Identification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect.</p>

novel mutation in the androgen receptor gene causing partial androgen insensitivity syndrome

In the present study, a novel mutation in exon 7 of the androgen receptor [AR] gene in an Egyptian patient with partial androgen insensitivity syndrome [PAIS] was described. A male patient aged seven months was presented with ambiguous genitalia; the parents were not consanguineous. The patient had 46, XY karyotype and normal testosterone levels. Both basal and after human chorionic gonadotrophin [HCG] testosterone/dihydrotestosterone ratio was within normal suggesting normal 5-alpha reductase activity. Sequencing analysis of the AR gene revealed a novel mutation [P817A] within the ligand-binding domain [LBD]