ABSTRACT
Genital ambiguity [GA] is defined as a condition wherein it is difficult to assign the sex of an individual on examination of the external genital organs. A multidisciplinary approach is the corner stone in successful management. The aim of the present study was to look into the underlying genetic aetiology in the 29 consecutively referred patients with genital ambiguity to Division of Human Genetics. Seventeen have been reared as males, 9 as females and 3 of undecided sex. In the 29 patients the diagnosed conditions were: congenital adrenal hyperplasia [8]; perineoscrotal hypospadias [6]; Dubowitz and Smith-Lemli-Opitz syndrome one each; androgen insensitivity syndrome [4]; testosterone synthesis defect [1]; persistant mullerian duct syndrome [2]; 4'6,XY female [2]; 46,XX/46,XY [1]; 46,XX male [1] true hermophroditism [1]; and penile agenesis [1]. Genetic etiology revealed single gene disorders in 72.42% of cases [21] [autosomal recessive 16 [76.2%]; X-linked recessive 5 [13.8%]]; chromosomal aberrations in 4 [13.79%] [?SRY mutation in 4 6,XY female; ?SRY translocation in 46,XX male; 46,XX/46,XY mosaicism] and remaining 4 [13.79%] were considered to be sporadic. Probands and their family v