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- How to assign the gender in a newborn with 46,XX CAH due to 21α - hydroxylase
defi ciency?
A newborn with 46,XX CAH due to 21α-hydroxylase defi ciency after confi rma-
tion of diagnosis should be counseled for gender assignment as a female irre-
spective of degree of virilization because fertility potential is invariably preserved
in these children. Appropriate reconstruction surgery is indicated in those who
have external genitalia Prader stage ≥3, at suitable time. However, sometimes in
clinical practice either because of parental insistence or social stigma these chil-
dren are reassigned as male sex particularly those who have severe virilization of
external genitalia (Prader stage ≥4). If the decision is taken to rear them as a
male, appropriate reconstruction surgery as well as implantation of artifi cial tes-
tes along with bilateral oophorectomy and hysterectomy should be performed
prepubertally. Further at the age of puberty, the child should be supplemented
with testosterone for optimal virilization (Figs. 10.19 and 10.20 ).abFig. 10.19 ( a , b ) A 15-year-old 46,XX simple virilizing CAH due to 21α-hydroxylase defi ciency
presented with apparent male external genitalia (Prader stage 4). Patient had gender identity, role,
and orientation as a male and preferred to continue with same gender identity and role
10 Congenital Adrenal Hyperplasia