Table 1

Specific disorders of androgen biosynthesis and androgen action and the respective phenotypes
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

Hiort

Hiort BMC Medicine 2013 11:152   doi:10.1186/1741-7015-11-152

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