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International Journal of Endocrinology
Volume 2016 (2016), Article ID 4963574, 9 pages
Research Article

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

1Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil
2Department of Pediatrics, FCM, UNICAMP, Campinas, SP, Brazil
3Growth and Development Laboratory, Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, SP, Brazil
4Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering (CBMEG), UNICAMP, Campinas, SP, Brazil
5Laboratory of Clinical Pathology, Clinical Hospital, FCM, UNICAMP, Campinas, SP, Brazil
6Pediatric Surgery, Department of Surgery, FCM, UNICAMP, Campinas, SP, Brazil
7Cytogenetics Laboratory, Department of Medical Genetics, FCM, UNICAMP, Campinas, SP, Brazil
8Department of Medical Genetics, FCM, UNICAMP, Campinas, SP, Brazil

Received 9 July 2016; Accepted 27 October 2016

Academic Editor: Darío A. Castroviejo

Copyright © 2016 Georgette Beatriz De Paula et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. The main etiology of 46,XX ovarian DSD was salt-wasting 21-hydroxylase deficiency. In 46,XX and 46,XY groups, other malformations were observed. In the DGD group, 46,XY partial gonadal dysgenesis, mixed gonadal dysgenesis, and ovotesticular DSD were more frequent. Low birth weight was observed in 42 cases of idiopathic 46,XY testicular DSD. The average age at diagnosis was 31.7 months. The final sex of rearing was male in 238 cases and female in 170. Only 6.6% (27 cases) needed sex reassignment. Conclusions. In this large DSD sample with ambiguous genitalia, the 46,XY karyotype was the most frequent; in turn, congenital adrenal hyperplasia was the most frequent etiology. Malformations associated with DSD were common in all groups and low birth weight was associated with idiopathic 46,XY testicular DSD.