K. Velayutham

Familial 46,XY disorder of sex development due to a novel CYB5A variant: a rare cause of isolated 17,20-lyase deficiency

Abstract Primary amenorrhea may be the first clinical presentation of an underlying 46,XY disorder of sex development (DSD). We report 2 siblings assigned female at birth; the index case presented with primary amenorrhea and the younger sibling was identified through family screening. Both had female external genitalia...