ESPE Abstracts (2016) 86 P-P1-370

45,X/46,XY Chromosomal Disorders of Sex Development: Experience from a Cohort of 50 Patients Followed in One Single Institution

Mariana Costanzo, Gabriela Guercio, Nadia Geniuk, Esperanza Berensztein, Juan Manuel Lazzati, Mercedes Maceiras, Verónica Zaidman, Marco Aurelio Rivarola & Alicia Belgorosky


Hospital de Pediatria Garrahan, Ciudad de Buenos Aires, Argentina


Background: Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. 45,X/46,XY mosaicism results in a large clinical spectrum of DSD including from female patients with Turner’s syndrome to normal appearing males.

Objective and hypotheses: The main aim of this study is to review the clinical and gonad histological findings in a cohort of chromosomal DSD patients followed between January 1/2000 and January 1/2016 at our institution.

Method: We analyzed the records 50 patients with 45,X/46,XY karyotype or variants. Patients were divided according to external genitalia into two groups (Gr): normal female phenotype (Turner syndrome, n18, Gr1), and atypical genitalia (n32, Gr2). We also identified one patient with normal male phenotype evaluated because of short stature that was not included in the analysis.

Results: Gr2 was more prevalent than Gr1 (64% vs 36%, P 0.009). Male assigned patients in Gr2 (n22, 69%) presented higher mean external masculinization score than female assigned ones (8.2±0.9 vs 5.6±1.6 S.D. respectively, P 0.0017). In all male assigned patients in Gr2 that have reached pubertal years, spontaneous pubertal development was observed (n9). Gonadal neoplasia was found in 5/34 gonads from Gr1 (15%, chronological age at diagnosis 15–18 years), and 2/50 gonads from Gr2 (4%, 3 years). Adult height was available from 18 patients and it was significantly lower in Gr1 vs Gr2 (145.3±5.1 cm vs 151.81±5.1 cm, respectively, P 0.016) even though in Gr1, 55% (6/11) received rhGH treatment vs only 30% in Gr2 (2/7).

Conclusion: In our cohort of 45,X/46,XY chromosomal DSD patients atypical genitalia was the most frequent phenotype. A tendency to a higher gonadal malignancy risk was observed in Turner syndrome patients. External genital phenotype might be a useful predictor for adult height.