Hindawi Publishing Corporation International Journal of Endocrinology Volume 2012, Article ID 237084, 9 pages doi:10.1155/2012/237084 Clinical Study Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia A. Zulfa Juniarto, 1 Yvonne G. van der Zwan, 2 Ardy Santosa, 3 Remko Hersmus, 4 Frank H. de Jong, 5 Renske Olmer, 6 Hennie T. Bruggenwirth, 6 Axel P. N. Themmen, 5 Katja P. Wolffenbuttel, 7 Leendert H. J. Looijenga, 4 Sultana M. H. Faradz, 1 and Stenvert L. S. Drop 2 1 Department of Human Genetics, Center for Biomedical Research, Faculty of Medicine Diponegoro University (FMDU), Semarang 50321, Indonesia 2 Division of Pediatric Endocrinology, Department of Pediatrics, Sophia Children’s Hospital, Erasmus MC, P.O. Box 2060, 3000 CD Rotterdam, The Netherlands 3 Department of Urology, Dr. Kariadi Hospital, Semarang 50321, Indonesia 4 Department of Pathology, Josephine Nefkens Institute, Erasmus University Medical Center, 3015 CE Rotterdam, The Netherlands 5 Section of Endocrinology, Department of Internal Medicine, Erasmus University Medical Center, 3015 CE Rotterdam, The Netherlands 6 Department of Clinical Genetics, Erasmus University Medical Centre, 3015 CE Rotterdam, The Netherlands 7 Department of Paediatric Urology, Erasmus University Medical Centre, 3015 CE Rotterdam, The Netherlands Correspondence should be addressed to Stenvert L. S. Drop, s.l.s.drop@erasmusmc.nl 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. 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. 1. Introduction The sequential expression of many genes is essential for go- nadal development in the male as well as in the female [1, 2]. In addition, timely secretion and action of hormones such as androgens and anti-M¨ ullerian hormone (AMH) are crucial for normal male development [3]. Mutation analysis of genes related to these factors in patients with genital disorders has substantiated their essential role [4–7]. Therefore, in a number of cases, a specific diagnosis can be made by mutation analysis. Disorders of sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical [8]. In patients categorized under the term 46, XY or 46, XX DSD with anomalies of gonadal development, often no specific etiology can be established [9]. Yet the establishment of a specific diagnosis is relevant with regard to proper gender assignment as well as regarding hormonal and surgical treatment. Moreover, patients with various forms of 46, XY DSD and chromosomal DSD are at a substantially increased risk of developing gonadal germ cell tumors [10].