Dr. A.K. Singal MBBS (Gold Medalist), DNB, MNAMS
M.CH (AIIMS, Gold Medalist)
Stecker Scholar Pediatric Urology (USA)

Index Cases

A child with disorder of sexual differentiation (Intersex)- CAH

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 and bilateral undescended testis. 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) with virilisation. 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 Sexual Differentiation (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. Further tests showed that baby had a fused urethra and vagina- a condition called urogenital sinus. The baby was taken up for Genital Reconstruction Surgery at 1 year of age. Enlarged clitoris was recessed and vagina and urethra was separated and brought to surface as separate openings. 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.

CAH with enlarged clitoris
Clinical Picture showing enlarged clitoris and scrotum like labia majora-a process called virilisation
CAH post surgery result
Result after single stage genital reconstruction, 2 months FU

Dr A.K.Singal is a top & expert pediatric urologist surgeon based in Navi Mumbai India. He has a special interest in diagnosis, treatment and surgery for genital birth defects such as disorders of sex development (DSD). Children with problems such a 46XX DSD (CAH) or 46XY DSD come to his clinic and hospital in Kharghar for best results. Dr Singal performs more than 200 genital reconstructive surgeries for children every year at his hospital in India and children from all over India and 20 countries come for treatment under his care.

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