sent with normal male external genitalia, the vast majority will appear phenotypically female or have ambiguous genitalia (table 1). The majority of cases of the Denys-Drash syndrome with any one of these three phenotypes of their external genitalia will have a normal male karyotype. The relative paucity of cases with a female karyotype may be because of underdiagnosis of the syndrome in phenot...

Persistent Muellerian duct syndrome (PMDS) is a rare form of male pseudohermaphrodism without the feature of ambiguous genitalia. We present a case of PMDS with transverse testicular ectopia (TTE).

background: in most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, xy in males and xx in females. case: here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 xx). array comparative genomic hybridization (array-cgh) revealed an unbalanced rearrangement re...

Infants born with ambiguous genitalia pose challenges to medical providers and can cause parental anxiety and distress. Disorders of sexual development (DSD) are classified into 3 major categories (46,XY DSD, 46,XX DSD, and sex chromosome DSD). A thorough history, physical examination, and appropriate diagnostic testing are needed to identify the underlying etiology. An understanding of normal ...

Incorrect diagnosis, incomplete investigations and improper surgical reconstruction can lead to complications in the management of patients with disorders of sex development. In this review we present examples and strategies to avoid these problems.