A study of gender outcome of Egyptian patients with 46,XY disorder of sex development

Sex Dev. 2010 Sep;4(4-5):285-91. doi: 10.1159/000317120. Epub 2010 Jul 24.


Children with disorder of sex development (DSD) may be born with ambiguous genitalia. Decision-making in relation to sex assignment has been perceived as extremely disturbing and difficult to families and health care professionals. This is mainly due to a general paucity of information about the condition and an exaggerated feeling of stigma and shame associated with genital abnormalities. This is the first study in Egypt aimed at studying the psychosexual development and gender outcome of 40 Egyptian patients with 46,XY DSD focusing on the impact of social and religious factors. The patients were subjected to history-taking, pedigree analysis, full clinical examination, and cytogenetic studies. Hormonal, radiological investigations and molecular studies were performed when possible. Accordingly, they were classified into 4 groups: (1) sex chromosome aneuploid DSD (mixed gonadal dysgenesis) and (2) disorders of gonadal development (gonadal dysgenesis); (3) androgen biosynthesis defect (5alpha-reductase deficiency, 17beta-hydroxysteroid dehydrogenase deficiency), and (4) defect in androgen action (androgen insensitivity syndrome). The psychosexual development was assessed using adapted structured questionnaire and the Bem sex role inventory for patients below and above 12 years of age, respectively. Thirty-two patients (80%) were initially assigned as females; 3 patients with gonadal dysgenesis, 1 patient with 5alpha-reductase deficiency, and 1 patient with androgen insensitivity were reassigned as male. Male reassignment also was recorded in 5 patients with 17beta-hydroxysteroid dehydrogenase deficiency and one of them showed sex reversal twice. Gender outcome of our patients is elusive; the social component has a significant impact on the gender outcome in our society, even more than religion. We recommend that in the future more and more patients should be analyzed as well. These studies should be designed to emphasize the quality of life of DSD patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 17-Hydroxysteroid Dehydrogenases / deficiency
  • 17-Hydroxysteroid Dehydrogenases / metabolism
  • Adolescent
  • Child
  • Child, Preschool
  • Cholestenone 5 alpha-Reductase / deficiency
  • Cholestenone 5 alpha-Reductase / metabolism
  • Disorder of Sex Development, 46,XY / enzymology
  • Disorder of Sex Development, 46,XY / pathology*
  • Egypt
  • Female
  • Gonadal Dysgenesis, 46,XY / enzymology
  • Gonadal Dysgenesis, 46,XY / pathology
  • Humans
  • Male
  • Sex Characteristics*


  • 17-Hydroxysteroid Dehydrogenases
  • 3 (or 17)-beta-hydroxysteroid dehydrogenase
  • Cholestenone 5 alpha-Reductase