RGDs registry under the 'Reproductive disorders'
| Disorder Name (Total=2) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Autosomal recessive |
•Steroid 5-alpha-reductase 2 deficiency •46,XY DSD due to 5-alpha-reductase 2 deficiency • Pseudovaginal perineoscrotal hypospadias •Familial incomplete male pseudohermaphroditism, type 2 •Male pseudohermaphroditism due to 5-alpha-reductase deficiency |
Gonadal disorders |
SRD5A2 steroid 5 alpha-reductase 2 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| 46,XY sex reversal 1 Autosomal dominant, Autosomal recessive, X-linked dominant, Y-linked |
•Swyer syndrome •46,XY complete gonadal dysgenesis •Pure gonadal dysgenesis 46,XY •46, XY CGD •46, XY pure gonadal dysgenesis •46,XY sex reversal •Gonadal dysgenesis, XY female type |
Sexual differenciation disorders |
SRY sex determining region Y SOX9 SRY-box transcription factor 9 DHX37 DEAH-box helicase 37 |
Reports Updated as of Jul 20, 2024 |
PubMed |