| Autor: |
Essawi, M, Nasr, H, Mazen, I, Gaafar, K, Amr, K, Hafez, M, Gad, Y |
| Jazyk: |
angličtina |
| Rok vydání: |
2009 |
| Zdroj: |
Egyptian Journal of Medical Human Genetics; Vol 9, No 1 (2008); 111-120 |
| ISSN: |
1110-8630 |
| Popis: |
Introduction: In Egypt, disorders of sex development (DSD) constitute a significant entity among the birth defect list. Previous studies have reported that end organ androgen unresponsiveness, i.e. Androgen resistance, was the most prevalent underlying mechanism among Egyptian 46,XY DSD cases. Based on cytogenetic and hormonal diagnostic criteria as well as few sporadic case reports, it was proposed that androgen receptor (AR) defects [i.e. Androgen insensitivity syndrome (AIS), OMIM#300068] might constitute a major etiology within this category. However, this has never been systematically ascertained through an AR molecular diagnostic approach. Aim of the Work: The current study aimed to assess the role of AR mutations as an underlying etiology among a sample of Egyptian 46,XY DSD pediatric patients presenting with androgen end organ unresponsiveness. Patients and Method: In the current study, 21 children [age |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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