... a diagnosis for these individuals and how it guided clinical management and family counselling. Conclusion: This work highlights the importance of early genetic testing in children born with 46,XY DSD where it complements traditional first-line testing. [email protected] 21 01 2022 24...

... controlling sex determination is still limited. Methods: We describe a 46,XY DSD patient from Egypt. The patient was reared as female, born to consanguineous parents, and was referred to us at the age of 5 years because of ambiguous genitalia. On examination, the girl was microcephalic (head circumference –3...

... to predominantly typically male external genitalia with minimal undervirilization, including isolated micropenis. This is an updated review of the implication of the SRD5A2 gene in 5α-reductase type 2 enzyme deficiency. For that, we identified 451 cases from 48 countries of this particular 46,XY DSD from...

...Anil Kumar; Rajni Sharma; Mohammed Faruq; Manoj Kumar; Shilpa Sharma; Ralf Werner; Olaf Hiort; Jain Vandana This study describes the clinical, biochemical, and molecular characteristics of Indian children with 46,XY DSD and suspected androgen insensitivity syndrome (AIS). Fifty children (median age...

... proven androgen insensitivity syndrome (AIS) from Western India. Index patients with pathogenic variants in the androgen receptor ( AR) gene were identified from a consecutive 46,XY DSD cohort ( n = 150) evaluated with clinical exome sequencing, and their genetically-proven affected relatives were also...

... advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 46,XY DSD AMHR2 Persistent müllerian duct...

... or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 46,XY DSD Ambiguous genitalia Denys-Drash syndrome Gonadoblastoma Wilms’ tumor...

... to the hypothesis that a common protein – termed ‘steroidogenic factor-1’ (SF-1) – could regulate their transcription. Gonad Gonadal dysgenesis NR5A1 Nuclear receptor Pituitary Steroidogenesis Steroidogenic Factor-1 46,XY DSD © 2008 S. Karger AG, Basel 2008 Copyright / Drug Dosage...