De la chapelle syndrome (xx male)

de la Chapelle or 46 XX sex reversal disorder is a rare autosomal recessive condition. Though genotypically a female pattern, the phenotype can be male depending on whether or not there is SRY gene. The biochemistry of such a case is that of hypogonadism with low testosterone and high gonadotropins. The gold standard for diagnosis is chromosomal analysis with fluorescent in situ hybridization (FISH) for SRY gene. Management should be individualized to the case. Here we describe one such case of de la Chapelle syndrome.