January - March 2008, Volume 4, Issue 1

Belengeanu V, Stoicanescu D, Andreescu N, Constantinescu M, Muresan A

Syndromic 46,XY disorder of sexual development

Acta Endo (Buc) 2008, 4 (1): 87-97
doi: 10.4183/aeb.2008.87

We report a case of an infant with syndromic 46,XY disorder of sexual development. The subject was born at term, to unrelated parents with no relevant medical history. At birth the infant 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 (Prader IV) 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.

Keywords: 46,XY disorder of sexual development, ambiguous external genitalia, sex reassignment

Correspondence: Dorina Stoicanescu, Medical Genetics Department, "Victor Babes" University of Medicine and Pharmacy, P-ta E. Murgu Nr. 2, Timisoara, Tel: 0256-204476. E-mail: dstoicanescu@yahoo.com