A child with Disorder of Sex development - Mixed Gonadal Dygenesis

Master S.K, 3 months old baby was brought to our clinic with abnormal sexual organs of the baby. The referring doctor could not say whether it was a boy or a girl.

On clinical examination, the child had a severe hypospadias and right sided undescended testis which could not be felt on clinical examination.

A Disorder of Sex Development (DSD) was suspected and detailed testing was done. Ultrasound showed uterus behind the vagina. A special X-ray test called Retrograde Genitogram confirmed the presence of vagina, uterus and right fallopian tube.

Karyotype was done to study the chromosomal sex of the baby and it was 46XY/45XO instead of normal 46XY. 46XY/45XO karyotype is called a mosaic type whereby in 50% cell lines of the body Y chromosome is missing. This leads to faulty development of the reproductive organs. Based on this a diagnosis of Sex Chromosome DSD was made (also called Mixed Gonadal dysgenesis).

After a detailed discussion with the family and considering that the penis development was adequate, a male sex assignment was considered. Dr A.K.Singal along with his team discussed the case in detail.

Surgery was done to remove female internal organs and at the same time Single Stage Urethroplasty was performed using Modified Koyanagi Repair. Dr V.R.Jayanthi from Nationwide Childrens Hospital & Ohio State University, USA was the Chief Surgeon during the Surgery. A second minor repair for a urethral fistula was performed 6 months later; now the baby is 5 years old and is doing well.

Later at 12-13 years of age, he will need counseling and some hormonal replacement to help him with sexual function. He will be infertile but a functional individual having a proper meaningful role in the society, taking care of his parents and family.

 

Clinical photo showing R undescended testis & severe hypospadias

Retrograde X-ray Contrast study showing large vagina behind bladder

Modified koyanagi flaps in place for single stage repair

Removed Hemiuterus & Fallopian tube with streak gonad

6 completed single Stage urethroplasty

 

Discussion on Disorders of Sex Development (DSD)

DSD or Intersex is a disorder where the sexual differentiation has not been completed. During the development of a normal child inside mother’s womb- till 2 months of pregnancy, it is impossible to distinguish whether it is a boy or a girl. Only after that depending on the chromosomes and hormones, sex is determined.

Sexual differentiation into a male or a female is a very complex and well orchestrated process and sometimes things may go wrong.

A baby may be born with incomplete sexual differentiation into a male or a female. Such condition is called ambiguous genitalia or Intersex.

Commonly these children may present with severe hypospadias, hypospadias with undescended testis or absent testis, ambiguous genitalia, clitoral hypertrophy etc.

It is important to realize that these kids except for the sexual organs are absolutely normal and can function as valuable and meaningful citizens. Just like a heart or brain disease, it is a medical disorder which is treatable.

With the advances in medicine most of these kids can be offered a good hormonal and surgical therapy which will remove the ambiguity and give them a functional male or a female status.

The problems these people face are from three fronts:

• Social
• Personal low self esteem
• Inadequate health care

As a result these kids are taken away by eunuch societies in their young age and denied a meaningful role in the society.

Team Effort is important in managing these children:

• Role of the family

o To seek proper medical help
o To emotionally support the child

• Role of the primary care doctors

o To refer these kids to a specialist as a early as possible
o Not to make hasty sex assignment as it is not possible in all cases to continue with the sex of rearing.
o Not to be judgmental and pass casual statements
o To maintain patient dignity and privacy.

• Role of the society

o To treat such kids as just another medical disorder
o To understand and offer equal opportunities in life
o To formulate legislation and create awareness about such disorders, that they are treatable like any other disorder.

Click here to read more about Disorders of Sex Development

 

 



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