Y CHROMOSOME ABNORMALITY IN PATIENTS WITH AMBIGUOUS GENITALIA

Abstract

Background. Ambiguous genitalia is an abnormality signing by the presence of atypical appearance of external genitalia as male or female, or appear as combination of both male and female appearance. Study about it in Indonesia is still very few. Cytogenetic examination is an obligatory procedure in genetic sexing on ambiguous genitalia patients as part of genetics assignment. In general, prenatal developments of male and female genitalia are very complex. Some crucial loci on Y chromosome have a role ini normal sexual development. The Y chromosome assumed have an influence on sexual phenotypes process, and so on ambiguous genitalia cases. Recent studies reported some cases of ambiguous genitalia with Y chromosome abnormality. Purpose. To know whether there are Y chromosome abnormalities in patients with ambiguous genitalia. Methode. A descriptive analytic study about Y chromosome abnormality presented in 24 ambiguous genitalia patients. Y chromosome abnormality described by the present or the absent of structure aberration and analyzed the defference of Y chromosome length among ambiguous genitalia patients and normal males. This study done in the Centre for Biomedical Research Faculty of Medicine of Diponegoro University, Semarang, from Februari 2007 to Mei 2008. Result. Twenty four ambiguous genitalia patients, found 1 sample with structure aberration 46, XY,dup (Ypter􀃆q12). The mean length of Y chromosome for samples is 2,43μm (SD: 0,35) and 2,54 μm (SD : 0,31) for controls . There is no significant defference of Y chromosome length among samples and controls (p>0,05). Phenotype of ambiguous genitalia patients with structure aberration of Y chromosome may vary but sample in this study included in Quigley stage 3. Conclusion. Twenty four ambiguous genitalia patients, found 1 sample with structure aberration of Y chromosome. There is no significant defference of Y chromosome length among ambiguous genitalia patients and normal males. Phenotype of ambiguous genitalia patient with structure aberration of Y chromosome may vary, patient in this study included Quigley stage 3. Key words: Y chromosome- abnormality - ambiguous genitalia