Most patients with TH have ambiguous external genitalia
, masculinized to variable degrees, although occasionally completely normal appearing mixed male and female genitalia have been reported.
2011)  reported 6 patients with ambiguous external genitalia with the age ranges from birth to 16 years.
Jaja T, Yarhere I, Anochie IC, Ambiguous External Genitalia in Childhood in Port Harcourt, Nigeria.
Patients may present with almost complete female phenotype or ambiguous external genitalia, hypospadias, micropenis, bifid scrotum, single urogenital opening, or a combination of these defects.
Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.
1,2 Virilized females with 46 XX karyo- type have ambiguous external genitalia
but normal internal female genitalia.
10) DSD is not a single disorder but rather a spectrum of conditions ranging from those with ambiguous external genitalia
, those with external female genitalia and varying degrees of internal testis.
These patients usually present with evidence of AMH deficiency as well as androgen deficiency, and therefore have mullerian duct derivatives and ambiguous external genitalia