46XX DSD Ovotesticular DSD managed with female gender assignment surgery

Case History:

NN, a 1 year 2-month child raised as a female, presented with ambiguous genitalia since birth. At presentation the external genitalia had a phallus (penis like structure) with stretched penile length of 24mm and glans diameter of 11.5mm. The meatus was perineal and there were prominent labioscrotal folds. Bilateral gonads were not palpable.

On evaluation her karyotyping (chromosomal checkup) was 46XX and her hormonal workup for virilisation due to congenital adrenal hyperplasia was negative. MRI scan showed uterus with cervix and fallopian tubes. There was a doubtful testis near internal ring on the right side but on left side there was no internal gonad seen. No ovaries could be seen.

We discussed with the family and the pediatric endocrinologist and recommended a cystoscopy+ vaginoscopy (pangenitoscopy) and Laparoscopy with biopsy to check what internal organs were there and then plan for gender assignment accordingly.

Pangenitoscopy & Laparoscopy:

We took the child for examination under anesthesia in operation theatre. Pangenitoscopy and diagnostic laparoscopy with gonadal biopsy was planned. On pangenitoscopy, urethral and vaginal openings were separate but were closely apposed with narrow skin bridge between. Urethra, bladder, vagina and cervix were normal. Intra operatively we found left abnormal looking dysgenetic gonad of size 0.8 x 0.8 cm. Right dysgenetic gonad was 1 x1cm. We also noted a wide open right inguinal ring. Left Hemiuterus with fallopian tube only on the left side was noted. Bilateral gonadal biopsy done. The child was discharged in the evening.

Biopsy report & Diagnosis:

Left gonadal biopsy showed scanty testicular parenchyma with poorly differentiated seminiferous tubules with ovarian tissue showing numerous primordial follicles. This was suggestive of an ovotestis. Right gonadal biopsy showed poorly differentiated seminiferous tubules with dense fibrosis, congested blood vessels and fibrofatty tissue. Tubular structure shows structures of spermatic cord. So right gonad was a dysgenetic testis.

Gender Assignment Surgery

After discussion with the Pediatric Endocrinologist and Pediatrician, we confirmed the diagnosis to be 46XX ovotesticular DSD. Family had already reared up the child as a girl. We decided to take up the child for female gender assignment surgery.

First, we did a laparoscopy again and excised bilateral gonads – laparoscopic bilateral gonadectomy. The right deep ring which was wide open and could have led to inguinal hernia, was closed using 4-0 prolene purse string suture, thus obviating the risk of hernia later on.

Next part of the procedure was Feminising Genitoplasty – Clitoroplasty and vaginoplasty.

Feminizing Genitoplasty was done in lithotomy position. Cystoscopy was again done, and urethra was catheterised. Incisions were marked and U-shaped flap was raised for vaginoplasty with dissection done on the ventral aspect.

A stay stitch was taken on the glans and phallus completely degloved. The urogenital sinus with urethra and vagina was together lifted off the corpora and mobilised. Lateral dissection was done, and the corpora were identified on either side at the clitoral base and ligated using 3-0 vicryl. Spongiosal tissue was removed from corpora through a ventral corporotomy incision without any dissection dorsally.

Glans Clitoris dissected on the ventral aspect, diameter of clitoris decreased to half from the initial diameter and closed vertically. Clitoris shortened by folding the redundant clitoral tissue and anchoring the glans clitoris to soft tissue below symphysis pubis. The prepuce of the clitoris was divided and brought down on either side as labia minora. Small cutback vaginoplasty incision was made and U Flap was sutured to bring Vagina widely to the surface thus completing the vaginoplasty. The labioscrotal flaps were realigned to reach more caudally, completing the cosmetic procedure. Post-operatively, the child was kept in hospital for 3 days, dressing was changed on day 3 and the child was discharged on day 4. Dressing was removed on POD7. At follow-up in 3 weeks, the child was doing very well with excellent cosmetic result and parents were very happy.

About 46XX Ovotesticular DSD:

Disorder od Sex Development is a birth defect where the external organs are not fully recognisable as either male or female and lie somewhere on the spectrum. Earlier known as intersex, the ore scientific name is disorder of sex development or just ambiguous or atypical genitalia. There are many types of intersex disorders (DSD), and of them ovotesticular DSD is one of the least common.  Earlier known as true hermaphrodite, 46XX ovotesticular DSD is a rare disorder. In such cases, the children are born with ambiguous/ atypical genitalia and have abnormal internal and external genitalia. The diagnosis is made by Karyotype and MRI scan but if there is any doubt then endoscopy and laparoscopy with biopsy may be needed as in this case. Such children require best treatment by expert pediatric endocrinologists and pediatric urologists. It is important to discuss with family and plan the surgery in the best interest of the child.

At Hypospadias Foundation, Dr A.K.Singal is an expert and top pediatric urologist in India. Every year he treats children and adults with DSD from across India and multiple countries. His hospital in Navi Mumbai, India is a reputed centre for such surgeries. Dr Singal also travels to Bahrain for performing genitourinary surgeries in children from Gulf, Middle East and African countries.

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