Sex chromosomes characteristics of intersex patients in Indonesia
Background: Since the development of a genetic clinic in Jakarta in 2000, there was increased number of patients with sex chromosomes or sexual differentiation disorders referred for sex chromosomes identification. We evaluated the cytogenetic results of these patients to determine the sex chromosomes profile.
Methods: All data of patients referred for sex chromosomes identification in 2000-2005 were descriptively evaluated. The cytogenetic study was done using G-banding and Fluorescence in-situ Hybridization (FISH) depending on the clinician’s request or each case indication.
Result: During the study period there were 14 cases in 2000-2004, and 34 cases in 2005. Among all these patients 3 cases were 45, X (Turner syndrome), 7 cases had mosaic sex chromosomes, 11 cases were XY sex reversal, and 1 case was XX male. These intersex cases, except Turner’s syndrome, clinically were contributed to androgen insensitivity syndrome, congenital adrenal hyperplasia, 5-α reductase deficiency. Unfortunately for most of cases the diagnosis was not confirmed by molecular study.
Discussion: The result above showed a quite high number of intersex cases. Several of these cases warrant confirmatory molecular diagnosis for timely and appropriate treatment, and prevention. Therefore, we intend to develop the molecular analysis for these cases.