Indonesia
Case Report
46 XX Ovotesticular Disorder of Sexual Development with Detected SRY
(Sexdetermining Region Y) Gene: A Case Report
Author(s): Helmi Tri Puji, Madarina Julia and Endy P PrawirohartonoHelmi Tri Puji, Madarina Julia and Endy P Prawirohartono
Ovotesticular disorder or true hermaphroditism is a condition in which an individual has both ovary and testis. The ovary is usually located on the left side, whereas the testis is on the opposite side. The SRY gene is detected in one third of cases of 46 XX ovotesticular DSD. The most common karyotype of ovotesticular DSD is 46 XX. Here, we report the case of a girl with SRY positive 46 XX karyotype diagnosed as ovotesticular DSD by gonadal biopsy. The patient presented with female phenotype and ambiguous genital since birth. The external genital showed an accessoria penile without OUE with rough right labia majora that looked like scrotum. Testicle was felt on the right side of scrotum. USG revealed no appearance of normal uterus, right testicle was visualized but no visualization of left testicle. Right and left ovaries were not clearly visualized... Read More»
DOI:
10.4172/2165-7920.1000865
Journal of Clinical Case Reports received 1295 citations as per Google Scholar report