​Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome (AIS) is when a person is genetically a male but has the physical appearance of a female. This occurs due to abnormal development of reproductive organs in an unborn baby during pregnancy, causing the new born, at the time of birth, to look like a female. It is only at the time of puberty that this disorder begins to show itself. 

The gender of a child is determined at the time of conception by the father’s genes. A mother’s egg always contains an X chromosome while a father’s sperm may contain either an X or a Y chromosome. Consequently the XX combination leads to the formation of a baby girl, while an XY configuration results in a baby boy. Under normal circumstances, the Y factor triggers the development of testicles which in turn produce male hormones (known as androgens). It is important to understand that the reproductive organs of both genders evolve from the same tissue, and the respective hormones direct the way. 

In androgen insensitivity syndrome, androgens are released but they do not have the desired effect on the ‘neutral’ reproductive tissue. In a way, these cells become ‘insensitive’ to male hormones and thus do not progress towards the formation of a penis. There are two categories of this disorder:

  1. Complete androgen insensitivity (also labelled Testicular Feminization)

  2. Incomplete androgen insensitivity ​

In babies, the external sexual organs may not appear normal in the incomplete type of AIS. In such cases, get your baby examined from the Children’s Hospital Service Line​ at the Aga Khan University Hospital. In a male infant you may notice:

  • Absence of testes from scrotum

  • Unusually small penis

  • Ambiguous genitalia (not clearly male or female)

  • Any lump/swelling felt in thigh area (could be a displaced testis)

However, in complete testicular feminization, your baby may seem feminine at birth. But as ‘she’ reaches her teenage years, signs of normal puberty would be absent. Puberty in females is primarily identified through breast development and start of menses (periods). Although breasts may actually form on time, because males also produce low levels of female hormones, periods will not come forth as there will be no uterus inside the body. 

Even though for many young girls, menstruation commencing a bit later than expected is a normal phenomenon, it is best not to take this lightly. Get a consult from the Children’s Hospital Service Line or Family Medicine Service Line​ at the Aga Khan University Hospital. The faculty are highly trained professionals and they can assess your case with ease. ​

If your family doctor finds it necessary, you may be referred to the Internal Medicine Service Line​ or Women’s Health Care Service Line​ at the Aga Khan University Hospital for more specialized evaluation.​

Your time with your doctor maybe limited, so make sure to prepare for your visit beforehand. ​Here are some tips to help get you started.​

To begin your evaluation, your doctor will conduct a detailed physical examination. Additional testing may be required to confirm or rule out the diagnosis. One or more of the following may be ordered:

  • Blood tests for hormone levels and/or to analyse your chromosomes

  • Ultrasound of abdomen or pelvis to locate internal reproductive organs

  • X-ray of hand to measure the development and age of your bones. This would help to rule out other growth disorders and constitutional delay.

Gender identity is a complex and delicate matter. It may come as a shock for a young lady to be told that she was supposed to be a male. Physicians from the Mind and Brain Service Line at the Aga Khan University Hospital will be integrated into your management plan for emotional support and psychological counselling. ​

An important consideration during the treatment is that the testicles (which might be present in the abdomen) are a vital organ for appropriate maturation during puberty, as they secrete hormones. Subsequently they must be removed surgically towards the end of adolescence because there is a chance of testicular cancer if they remain in the body longer than necessary. Once you have completed puberty, oestrogen (female hormone) replacement may be initiated. 

Patients diagnosed with incomplete androgen insensitivity syndrome may have both male and female traits. Again this can be a cause of confusion and social issues. You can seek help at the Aga Khan University Hospital, which is the only internationally accredited hospital in Pakistan. It provides a platform for multidisciplinary health care. Your treatment plan will be tailored to your needs and your preferences will be taken into consideration. A combination of specialists from the Children’s Hospital Service Line, Internal Medicine Service Line, and Mind and Brain Service Line​ may work together to make sure all aspects of concern are targeted in order to maintain the best quality of life.

The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.

The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the 'Important Numbers' section on the website homepage.

The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments' costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the 'Important Numbers' section on the website homepage.

Your doctor and or nurse will give you specific instructions about the prescribed medication. Please ensure that you take or use the prescribed medicine as advised. It can be dangerous to your health if you self-prescribe. Please inform the doctor or nurse beforehand if you have experienced any adverse reactions to any medications in the past. If you experience any symptoms of drug poisoning, overdose or severe reaction please contact the Pharmacy Service at The Aga Khan University Hospital immediately. You can find the contact number of the Pharmacy Services in the 'Important Numbers' section on the website homepage.

The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.