A child with Disorder of Sex Development - Congenital Adrenal Hyperplasia

A one month old baby was brought to our clinic with ambiguous genitalia- parents were not clear about the sex of the baby as the baby’s sexual organs were not fully differentiated. On examination the baby had a penis like structure (enlarged clitoris) and bilateral undescended testis. The urethra and vagina were not seen spearately - this is called urogenital sinus). Ultrasound revealed female internal sexual organs- uterus and ovaries. Karyotype was 46XX suggestive of female genotype. 17OHP (breakdown product of steroid hormones) levels were checked in the blood; the levels came as strongly elevated suggestive of a condition called Congenital Adrenal Hyperplasia (CAH). In this condition due to a block in adrenal hormone production excess male hormones are produced even in female babies when they are developing in mother’s womb. This leads to conversion of external female sexual organs into male type a process called virilisation.
CAH is by far the most common among all the Disorders of Sex Development (disorders where sexual differentiation goes haywire).

Parents were counseled in detail and adrenal hormonal replacement was started in consultation with Dr Prisca Colaco- Pediatric Endocrinologist. The baby was taken up for Genital Reconstruction Surgery (sex assignment surgery) at 1 year of age by a team of surgeons headed by Dr A.K.Singal (Pediatric urologist). Enlarged clitoris was recessed (clitoroplasty) and vaginoplasty and urethroplasty was also done so that urethra and vagina become separate opening in vestibule. The whole surgery was completed in single stage. She has healed well after this major reconstructive surgery and is expected to have a normal female life. She will require lifelong steroid replacement therapy to prevent untoward complications.

Pre-operative picture showing enlarged clitoris

Post-operative picture showing normal looking female genitalia

 

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.

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
  • To seek proper medical help
  • To emotionally support the child
  • Role of the primary care doctors
  • To refer these kids to a specialist as a early as possible
  • Not to make hasty sex assignment as it is not possible in all cases to continue with the sex of rearing.
  • Not to be judgmental and pass casual statements
  • To maintain patient dignity and privacy.
  • Role of the society
  • To treat such kids as just another medical disorder
  • To understand and offer equal opportunities in life
  • 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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