Two cases of ambigious genitalia

ABSTRACT

The term "Ambiguous genitalia" applies to confusing appearance of the external genitalia. Sex assignment becomes essential for the parent's peace of mind, and in turn depends on anatomy and functional endocrinology rather than karyotype. Two cases with all different genetic sex, gonadal sex and phenotypic sex are described. First case is that of congenital adrenal hyperplasia [CAH] in a month old baby whose genotype was female with laboratory investigations exposing her diagnosis. She is doing well with oral hydrocortisone and fludrocortisone. Second case is that of probable 5-alpha reductase deficiency who would probably need future surgery