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International Journal of Endocrinology
Volume 2012 (2012), Article ID 237084, 9 pages
http://dx.doi.org/10.1155/2012/237084
Clinical Study

Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia

1Department of Human Genetics, Center for Biomedical Research, Faculty of Medicine Diponegoro University (FMDU), Semarang 50321, Indonesia
2Division of Pediatric Endocrinology, Department of Pediatrics, Sophia Children's Hospital, Erasmus MC, P.O. Box 2060, 3000 CD Rotterdam, The Netherlands
3Department of Urology, Dr. Kariadi Hospital, Semarang 50321, Indonesia
4Department of Pathology, Josephine Nefkens Institute, Erasmus University Medical Center, 3015 CE Rotterdam, The Netherlands
5Section of Endocrinology, Department of Internal Medicine, Erasmus University Medical Center, 3015 CE Rotterdam, The Netherlands
6Department of Clinical Genetics, Erasmus University Medical Centre, 3015 CE Rotterdam, The Netherlands
7Department of Paediatric Urology, Erasmus University Medical Centre, 3015 CE Rotterdam, The Netherlands

Received 26 July 2011; Accepted 7 October 2011

Academic Editor: Olaf Hiort

Copyright © 2012 A. Zulfa Juniarto 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.

Abstract

Disorder of sex development (DSD) patients in Indonesia most often do not receive a proper diagnostic evaluation and treatment. This study intended to categorize 88 Indonesian patients in accordance with the new consensus DSD algorithm. Diagnostic evaluation including clinical, hormonal, genetic, imaging, surgical, and histological parameters was performed. Fifty-three patients were raised as males, and 34 as females. Of 22 patients with 46, XX DSD, 15 had congenital adrenal hyperplasia, while in one patient, an ovarian Leydig cell tumor was found. In all 58 46, XY DSD patients, 29 were suspected of a disorder of androgen action (12 with an androgen receptor mutation), and in 9, gonadal dysgenesis was found and, in 20, severe hypospadias e.c.i. Implementation of the current consensus statement in a resource-poor environment is very difficult. The aim of the diagnostic workup in developing countries should be to end up with an evidence-based diagnosis. This is essential to improve treatment and thereby to improve the patients' quality of life.