A case report: 46 XY-disorder of sexual development

ABSTRACT

Authors report a case of a 6-year-old child with syndromic 46, XY disorder of sexual development. From the birth patient was assigned female. Physical examination showed dysmorphic features and ambiguous external genitalia. Cytogenetic analysis of cultured peripheral blood lymphocytes revealed a male karyotype. The result of the chromosomal investigation showing male genetic sex, together with the ambivalent aspect of the external genitalia and gonads that are exclusively testes led to the diagnosis of 46, XY disorder of sexual development. The clinical management will help the child and the family deal effectively with this condition A multidisciplinary approach to this problem involving pediatricians, specialists in the field of endocrinology, genetics, surgery and psychiatry is necessary in order to reach a prompt and correct diagnosis and treatment.