alexa 46 XX Ovotesticular Disorder of Sexual Development with Detected SRY (Sexdetermining Region Y) Gene: A Case Report | OMICS International
ISSN: 2165-7920

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Case Report

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

Helmi Tri Puji*, Madarina Julia and Endy P Prawirohartono

Child Health Department, Dr Sardjito Hospital, Gadjah Mada University, Yogyakarta, Indonesia

*Corresponding Author:
Helmitri P Lestari
Child Health Department, Dr Sardjito
Hospital, Gadjah Mada University, Yogyakarta, Indonesia
Tel: +62274587333
E-mail: [email protected]

Received date: September 10, 2016; Accepted date: September 25, 2016; Published date: September 30, 2016

Citation: Puji HT, Julia M, Prawirohartono EP (2016) 46 XX Ovotesticular Disorder of Sexual Development with Detected SRY (Sexdetermining Region Y) Gene: A Case Report. J Clin Case Rep 6:865. doi:10.4172/2165-7920.1000865

Copyright: © 2016 Puji HT, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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).

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