Characterization of a population of patients with 46,XX disorders of sex development followed at a Pediatric Center of Argentina

M. Costanzo; G. Guercio; R. Marino; P. Ramirez; D. Warman; M. Ciaccio; N. Saraco; E. Vaiani; M. Bailez; L. Ongaro; M. Rivarola; A. Belgorosky

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Endocrine Abstracts (2012) 29 P1306

ICEECE2012 Poster Presentations Paediatric endocrinology (47 abstracts)

Characterization of a population of patients with 46,XX disorders of sex development followed at a Pediatric Center of Argentina

M. Costanzo , G. Guercio , R. Marino , P. Ramirez , D. Warman , M. Ciaccio , N. Saraco , E. Vaiani , M. Bailez , L. Ongaro , M. Rivarola & A. Belgorosky

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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 January 1, 2011 in whom laboratory tests were requested were reviewed. We analyzed the records of 156 patients with the 46,XX karyotype. In 133 patients (85.3%) the final diagnosis was congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. 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. Diagnoses of the remaining 23 patients were the following: ovotesticular DSD in 5 patients (3.2%), testicular DSD in 6 (3.8%), aromatase (CYP19) deficiency in 7 (4.5%), oxidoreductase deficiency (POR) in 2 (1.3%), CAH due to 11-hydroxylase deficiency in 2 (1.3%), and CAH due to 3βhydroxysteroid 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 has been previously described, CAH 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 the ovotesticular and testicular 46,XX DSD population. Aromatase deficiency is believed to be a rare disease, but in our experience, it was as frequent as ovotesticular DSD.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This work was supported, however funding details unavailable.