From: The differential role of androgens in early human sex development
Name | Disrupted pathway | OMIM | Gene | Phenotype at birth | Phenotype at puberty | Alternate pathway |
---|---|---|---|---|---|---|
5α-Reductase deficiency | Dihydrotestosterone synthesis | 607306 | SRD5A2 | Pseudovaginal perineoscrotal hypospadias, variable virilization | Excessive virilization | 5α-Reductase type 1 |
17β-Hydroxysteroid dehydrogenase deficiency | Testosterone synthesis | 605573 | HSD17B3 | Mostly almost female appearing external genitalia | Virilization, sometimes slight breast development | 17β-Hydroxysteroid dehydrogenase type 5 |
Androgen insensitivity | Androgen action | 313700 | AR | In complete androgen insensitivity syndrome, completely female external genitalia | Feminization | Intracellular aromatization to estrogens |