CAH (46 XX) – A Gender-Related Birth Condition

: Summary for Public Awareness

Congenital Adrenal Hyperplasia (CAH) 46 XX is a medical condition in which 97% of affected babies are genetically female, but at birth, their external genitalia are not clearly identifiable. This causes deep confusion and emotional distress for parents, who are unable to understand whether their child will grow up as a girl and how her future—including marriage—will unfold.

At the Birth Defects Foundation, we perform reconstructive genital surgery for these children, giving them a clear and anatomically correct appearance. Internally, these girls already have a normal uterus and ovaries, but they require lifelong medication to maintain hormonal balance.

These two essential medicines are:

Hydrocortisone

Florinef

Both must be taken throughout life to protect the child’s health.

The monthly cost of these imported medicines is approximately PKR 15,000, which many families cannot afford.

Our Commitment: 100% Free Treatment and Medication

The Birth Defects Foundation provides these medicines entirely free of cost to every patient—rich or poor, with or without influence. Parents can collect the full month’s medicines from any of our five centers across Pakistan.

Support from CARE Foundation USA

Children with CAH (46 XX) require their medication to be adjusted every three months. A higher or lower dose can severely impact their health. Birth Defects Foundation is deeply grateful to CARE Foundation USA, whose Medical Director, Dr. Kiran Soo, conducts online OPD sessions every three months for these complicated cases. She adjusts each child’s treatment plan with great care—completely free of charge.

This collaboration is a blessing for families in Pakistan. Through the support of CARE Foundation USA, we are able to provide world-class, continuous medical management to CAH (46 XX) children without any financial burden.