Журнал клинических случаев

46 XX Ovotesticular Disorder of Sexual Development with Detected SRY (Sexdetermining Region Y) Gene: A Case Report

Abstract

Helmi 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. Karyotyping-46 XX and SRY gene was detected on 472 bp fragment on multiplex PCR of AZF/SRY gene analysis. Diagnostic laparoscopy showed left hemiuterus with fallopian tube and unilateral left side ovary. The shape and size of left fallopian tube was normal. Histopathologic examination report revealed left gonad was ovarium with primary follicle and right gonad was testicle with leydig cell and seminiferous tubules. This patient was decided as a girl. The operation was initiated and divided into 2 phases. The first phase was orchidectomy of the right side testicle and the second phase was genital reconstruction (clitoroplasty and labioplasty).