Abstract
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).
Highlights
Disorder of sexual development (DSD) is a rare condition with a reported incidence of 1:4500 in newborn and less than 10% of which is ovotesticular disorder [1]
Ovotesticular disorder or true hermaphroditism is a condition in which an individual has both ovary and testis
The SRY gene is detected in one third of cases of 46 XX ovotesticular DSD
Summary
Disorder of sexual development (DSD) is a rare condition with a reported incidence of 1:4500 in newborn and less than 10% of which is ovotesticular disorder [1]. This mechanism contributes to the characteristic of ambiguous genital to individuals with 46 XX or 46 XX male phenotype ovotesticular DSD [5]. This report describes a 13-year-old girl who was diagnosed as a case of SRY-positive 46 XX ovotesticular DSD. The patient presented with female phenotype and ambiguous genital since birth.
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