Characterization of a population of 162 patients with 46,XX Disorders of Sex Development followed at a Pediatric Center of Argentina

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SAT 596-621-Pediatric Endocrinology /Steroids and Puberty
Saturday, June 15, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SAT-614
Mariana Costanzo, Gabriela Guercio*, Roxana Marino, Esperanza Beatriz Berensztein, Pablo Ramirez, Diana Monica Warman, Marta Ciaccio, Nora Isabel Saraco, Elisa Vaiani, Marcela Bailez, Marco A Rivarola and Alicia Belgorosky
Hospital de Pediatria Garrahan, Buenos Aires, Argentina
Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The main aim of this study is to characterize a cohort of 46,XX DSD patients followed at the Garrahan Pediatric Hospital, Buenos Aires, Argentina. Medical records of all patients followed at the Endocrinology Department because of DSD between January 1, 2000 and July 31, 2012 in whom laboratory tests were requested were reviewed. We analyzed the records of 162 patients with the 46,XX karyotype. In 139 patients (85.8%) the final diagnosis was congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CAH/21-OHaseD). This diagnosis was established on the basis of consistent hormonal measurements (in all cases basal serum 17OH-progesterone was higher than 100 ng/ml). Diagnosis was confirmed by genotyping of the CYP21A2 gene in 90 % of the cases (n=125). Diagnoses of the remaining 23 patients were the following: in 14 patients diagnosis was made by histological examination of the gonads, ovotesticular DSD in 7 patients (4.3%), testicular DSD in 7 (4.3%); while in the other 9 patients by gene analysis,  aromatase (CYP19) deficiency in 4 (2.5%), oxidoreductase (POR) deficiency (PORD) in 2 (1.2%), CAH due to 11β-hydroxylase deficiency in 2 (1.2%), and CAH due to 3β-hydroxysteroid dehydrogenase in 1 patient (0.6%). In patients with testicular and ovotesticular DSD the presence of the SRY gene was investigated. SRY was positive in two patients, one with testicular DSD and the other with ovotesticular DSD. As, it is widely known, CAH/21-OHaseD is the most common diagnosis in patients with 46,XX DSD. Testicular and ovotesticular DSD was the second most frequent diagnosis. Further studies should be performed to better characterize this population. To arrive at an etiologic diagnosis (should) optimizes long-term monitoring and improves genetic counseling

Nothing to Disclose: MC, GG, RM, EBB, PR, DMW, MC, NIS, EV, MB, MAR, AB

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Sources of Research Support: Supported by FONCYT PICT 2008-0347,Argentina