A case report: 46,XX ovotesticular DSD

A case report: 46,XX ovotesticular DSD

Besut Daryanto^1,&, Hamdan Yuwafi Naim²

¹Department of Urology, Faculty of Medicine, Brawijaya University, Saiful Anwar General Hospital Malang, East Java, Indonesia, ²Department of Pediatric Health, Faculty of Medicine, Brawijaya University, Saiful Anwar General Hospital Malang, East Java, Indonesia

^&Corresponding author
Besut Daryanto, Department of Urology, Faculty of Medicine, Brawijaya University, Saiful Anwar Hospital Malang, Malang, East Java, Indonesia

Introduction    

Ovotesticular disorder of sexual development (DSD) is a rare condition. Most cases have a sporadic distribution, although there are a few documented cases of familial recurrence. Genital ambiguity occurs in 1 in 4,500 births, and ovotesticular DSD occurs in fewer than 10% of all DSD. We present a case of 46,XX ovotesticular DSD in a 14-year-old child [1-3].

Patient and observation     

A 14-year-old child had complained of a disorder of the urinary meatus and gender since birth (referral from surgery outpatient clinic at Saiful Anwar Hospital, Malang) (Figure 1). The patient had a penis, one testis and a hole below the scrotum which looked like a vagina. The breasts had become bigger in the previous year, and pubic hair had appeared about 1 year before. The patient had had two operations at a private hospital in Malang. In 2004 (2 years old), the operation was to look for the left testis but it could not be found; in 2007 (5 years old), the operation was to straighten the penis which was curved because the bottom part was attached to the scrotum. From physical examination, sexual hair distribution was on normal parts of the body. He had an incomplete abnormal vagina on his scrotum. Menstruation blood came from this vagina. He had a phallus which is generally shared with the urethra as the common external orifice; the phallus had had chordee which had been removed. The urethra opened as a urogenital sinus (Figure 2). Hypospadias was encountered. He had a normal scrotum which had a labioscrotal fold. Gonads were found on the right side of the labioscrotal folds. He had developed breasts. Urology USG (January 11^th, 2016) revealed a uterus which was appropriate for puberty, bilateral invisible ovaries, intrascrotal right testis with two cystic masses, and invisible left testis. MRI (January 18^th, 2016) revealed a uterus (posterior to the bladder), bilateral ovaries, cervix, vagina, intrascrotal right testis with a cystic lesion in the right scrotum, invisible left testis, unclear prostate, and normal kidneys (Figure 3). Breast sonography revealed female mammae with no lymphadenopathy. Psychiatry consultation revealed an adjustment disorder with depressive mood and psychosocial development disorder. Laparoscopy done by an OBGYN revealed that the uterus was attached to the left pelvic wall. A fallopian tube with a cystic mass on the end of it was found in the left adnexa, and a biopsy was done using a varies coupe procedure to determine whether it was an ovary or testis; the result was a left fallopian tube. It was difficult to evaluate ovaries. Subsequent exploratory laparoscopy was done by an urologist to perform left testis biopsy, and left testis agenesis with an uncomplete uterus was suspected. Anatomical pathologic examination revealed benign and fallopian tube tissue without malignancy on biopsy of the left ovary. On biopsy of the right ovary, anatomical pathologic examination revealed benign connective tissue with collagen. The patient was negative for the SRY gene, and re-karyotyping examination revealed a 46,XX genotype (Figure 4).

Discussion     

46,XX ovotesticular DSD commonly refers to hermaphroditism. The term hermaphrodite is derived from the Greek mythological god Hermaphroditos, son of Hermes and Aphrodite, whose body after being merged with that of the nymph Salmacis assumed a perfect form with both male and female attributes [4]. The causes of true hermaphroditism remain enigmatic, and the most common presentation is abnormal external genitalia ranging from normal male to normal female. Proper gender assignment to a neonate born with DSD is a social emergency of the newborn period. Infants and children born with DSD pose a diagnostic and therapeutic challenge to clinicians. Success depends upon rapid and precise diagnosis, appropriate gender assignment, proper medical therapy, and meticulous surgical technique [5-7]. This patient is apparently and expectedly happy to remain male. It is therefore planned to remove both gonads immediately because he has a gonadoblastoma on the right side-they become potentially malignant after puberty so the sooner the better. Removal of the uterus and vagina is also indicated. It is important to consult the IVF team to preserve both ovarian and testicular tissue in liquid nitrogen initially. A small piece of the right gonad will be taken to look for sperm; if none are found, the stored tissue will be discarded. In other countries (such as Australia), it is now mandatory to preserve all tissue in case the boy might want to use the ovarian part later; this may not be the case in Indonesia but is our choice. The chance of a gender change in this child is negligible as he has enough testosterone. He will start testosterone replacement therapy as the bone age is very advanced. Bilateral mastectomy will be considered after 6 months-the tissue will shrink by about 80% so a smaller procedure will be better for him.

Conclusion     

46,XX ovotesticular DSD is a rare case. Only a few cases have been found and documented. Treatment consists of medical treatment, surgical care, and consultation of expertise in urology, gynecology, endocrinology, pediatrics, and psychiatry.

Competing interests     

The authors declare no competing interests.

Authors´ contributions     

All the authors contributed equally in the data collection and the drafting of the manuscript. All the authors read and agreed to the final manuscript.

Acknowledgments     

All Author thank to 10^th Malang Continuing Urology Education and Saiful Anwar Hospital for facilitating this article.

Figures     

Figure 1: clinical presentation of the patient

Figure 2: external genitalia of the patient

Figure 3: MRI of the patient

Figure 4: karyotyping examination

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