Table 3.

46,XY DSD: similar phenotypes, different decisions, different outcome in two people with 46,XY karyotype and atypical genitalia at birth.

Person	Mary	Mario
Description of phenotype at birth	Ambiguous genitalia with clitoromegaly, urogenital sinus, inguinal gonads	Ambiguous genitalia with severe proximal hypospadias, urogenital sinus, inguinal gonads
Assigned sex	Female	Male
Investigations	Repeated endocrine and imaging studies	Imaging study of genitalia
Early diagnosis	Gonadal dysgenesis in infant with Morris syndrome*	Male undervirilization
Procedures	Gonadal removal, feminizing surgery	Male reconstructive surgery
Adult outcome	Gender dysphoria (“I'm sick, I can't understand what I am”) plus other psychiatric disorders, social withdrawal, poor education level, and work opportunity	Married, satisfying social and sexual activity, spontaneous proven fertility (2 daughters), University degree, top positions in his work
Age at molecular diagnosis	30 years old	66 years old
Molecular diagnosis	Compound heterozygosity for SRD5A2 gene variants	Compound heterozygosity for SRD5A2 gene variants

The same molecular diagnosis (compound heterozygosity for SRD5A2 gene variants) was made in adulthood.

^*Complete androgen insensitivity does not present with ambiguous genitalia and functioning testes are present and therefore not “gonadal dysgenesis”.