COMPLETE SEX REVERSAL: SRY POSITIVE 46,XX MALE BY Y TO X TRANSLOCATION # C. Procopiuc 1* ; C. Dumitrescu 1 , C. Chirita 1 , M. Carsote 2 , A. Caragheorgheopol 1 , A. Goldstein 1 , C. Poiana 1,2 1 "C. I. Parhon" National Institute of Endocrinology, Bucharest, Romania 2 "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania Abstract Individuals with male phenotypes and 46 XX karyotype appear in about 1 of 20,000 births with clinical features varying from normal male appearance to sexual ambiguity and hermaphroditism. More than 80% of these patients present a spontaneous translocation of the SRY gene from the Y to the X chromosome in the paternal germinal cells. We present a case of a 2 years old boy diagnosed with minor hypospadias, bifid scrotum, normal penis and palpable gonads in the scrotum. The karyotype is 46 XX and FISH analysis reveals SRY translocation on one of the X chromosomes. Ultrasound exam does not reveal any mullerian structures and a hCG test proves the testes to be functional. A short course of treatment with hCG is recommended in order to induce the proper development of the scotal sac. The patient will need monitoring, in order to identify the development of hypergonadic hypogonadism, which characterizes such patients in later life. This case underlines the importance of comprehensively investigating any patient with even minor genitalia anomalies. Key words: 46,XX male, SRY, tranlocation, 46,XX testicular DSD. INTRODUCTION Discrepancy between genotype and phenotype of an individual give rise to the sex reversal syndromes. The frequency of 46XX males is about 1:20.000 live birth. Most of these cases are caused by the translocation of the SRY genes to an X chromosome, but some are SRY negative, determined by duplications of SOX9, 22q or RSPO1 defects or gonadal mosaicism (1, 2). Usually these patients are discovered as adults because of almost normal phenotype (abnormalities include smaller height, gynaecomastia) and diagnosis is postponed until infertility and hypergonadic hypogonadism develop. Some cases present with various degrees of sexual ambiguity or hermaphroditism, probably because of skewed X inactivation (3) and are diagnosed sooner. This is such a case. 525 Case Report doi: 10.4183/aeb.2009.525 *Correspondence to: Camelia Procopiuc, MD, Department of Pediatric Endocrinology, "C.I. Parhon" National Institute of Endocrinology, Bucharest, Romania, email: procopiuc_camelia@yahoo.com # The data have been partially presented as a poster at the 4 th National Congress of Neuroendocrinology, 23-26 May 2009 Bucharest Acta Endocrinologica (Buc), vol. V, no.4 , p. 525-531, 2009