The differential role of androgens in early human sex development

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

ISSN: 1741-7015