Can I read Molecular analysis of 5α‐reductase type 2 gene in eight unrelated egyptian children with suspected 5α‐reductase deficiency: prevalence of the G34R mutation on EtoBox?

Molecular analysis of 5α‐reductase type 2 gene in eight unrelated egyptian children with suspected 5α‐reductase deficiency: prevalence of the G34R mutation by Inas Mazen; Yehia Z. Gad; Mona Hafez; Charles Sultan; Serge Lumbroso is a Medicine article available to read on EtoBox.

What is Molecular analysis of 5α‐reductase type 2 gene in eight unrelated egyptian children with suspected 5α‐reductase deficiency: prevalence of the G34R mutation about?

## Summary **objective** Analysis of the 5α‐reductase type 2 (SRD5A2) gene in Egyptian patients with suspected 5α‐reductase (5αR) deficiency. **patients and methods** Eight unrelated patients, originating from different geographical areas of Egypt, were referred to the Department of Pediatrics. Six prepubertal and two postpubertal patients presented with ambiguous genitalia. Four were being reared as females while the others were being reared as males. Six patients were products of consanguineous marriages. All patients had 46,XY karyotype. Basal and post‐human chorionic gonadotrophin (hCG) stimulation plasma levels of testosterone and dihydrotestosterone were determined. Sequencing of five exons of the SRD5A2 gene was carried out. **results** All patients had normal male testosterone levels, both basal and post‐hCG stimulation. The T/DHT ratio was available for six patients and showed values that ranged from normal to high. Three different homozygous mutations were identified. One patient carried a Y235F substitution and two had a N160D substitution. Interestingly, all five of the other patients had the G34R mutation. The parents were heterozygous for the mutations, although the m

Who reads Molecular analysis of 5α‐reductase type 2 gene in eight unrelated egyptian children with suspected 5α‐reductase deficiency: prevalence of the G34R mutation?

Author

Inas Mazen; Yehia Z. Gad; Mona Hafez; Charles Sultan; Serge Lumbroso

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley; Research Square (ISSN 0300-0664)

Published

2003

Language

EN

Field

Medicine (Health Sciences)