​Kallmann Syndrome​

A rare disorder of the genes, Kallmann’s syndrome can be found in both genders, with males being affected five times more often than females.  Mutations (change) in specific gene(s) hinder certain nerve cells in the brain from forming appropriately and reaching their designated position during brain development before birth. This in turn prevents them from performing their expected function once the baby is born. 

The first group of nerve cells affected is those specialized to process smells (known as olfactory neurons). The other nerves afflicted are the ones that produce a hormone called gonadotropin-releasing hormone (GnRH). GnRH is responsible for the production of several other hormones that play a central role in sexual development before birth and during puberty. Normal function of ovaries in females and testes in males are dependent on GnRH. Thus, signs of Kallmann syndrome may show up in infancy, adolescence or adulthood. They are usually noticeable around the early teenage years, when <puberty may be delayed> or absent, characteristically accompanied by loss or decreased sensation of smell. ​

Multiple associated abnormalities have been observed, such as <cleft lip and cleft palate>, absence of a kidney, hearing loss, bimanual synkinesis, irregular eye movements and issues with tooth development. 

Since Kallmann syndrome is linked to alterations in genes, it can be inherited from parents. However, it is not necessary that your elders were troubled by the disease; they may not have encountered any of the obvious complaints but simply carried the mutated gene in their body. Such people are called ‘silent carriers’. 

Consequences of Kallman syndrome in adult males could be infertility, erectile dysfunction, osteoporosis (decreased bone mass), hot flashes and difficulty concentrating. ​​

In babies the external sexual organs may not appear normal. In such cases, do get your baby checked from the <Internal Medicine Service Line> at the Aga Khan University Hospital. You may notice:

  • Absence of testes

  • Unusually small penis

  • Ambiguous genitalia (not clearly male or female)

Affected maturity features in teenage males:

  • Decreased muscle mass

  • Impaired growth of facial and body hair 

  • Lack of deepening of voice

  • Flaw in penis and testis growth

  • Enhanced formation of breast tissue (gynaecomastia)

  • Tiredness 

Other related issues in men include erectile dysfunction (difficulty getting or maintaining an erection), reduced libido (sexual desire) and concentration problems. 

Puberty in females is identified through the following characteristics, which may be completely or partially absent in Kallmann syndrome:

  • Breast development

  • Start of menses (periods)

Of course the distinguishing feature from other similar diseases is the absence or diminished sense of smell in both men and women.

Any of the listed symptoms should be a prompt to seek medical advice. Many people with Kallmann syndrome are not aware that they are unable to detect odours until the impairment is discovered through testing.

Do not hesitate to contact the doctors working with the ​Internal Medicine Service Line  at The Aga Khan University Hospital. 

You may feel embarrassed about some of these complaints but remember that the faculty at The Aga Khan University Hospital is highly trained professionals who tackle such cases with sensitivity and compassion, to provide you with quality health care.​

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.

The first step would involve a few questions from you and then a physical examination. One or more of these tests may be required for reaching or confirming a suspected diagnosis:

  • Semen analysis: to check the sperm count

  • Blood tests: for assessing the hormone levels

  • MRI scan of the brain

  • Genetic testing

  • Testing for smell sensation​

Depending on your age, gender, symptoms and the results of your assessment, your doctor will guide you through the next step. Some youngsters hit puberty a bit later than others, so if Kallmann’s syndrome is not likely, it is possible you will be asked to wait and follow up after a certain period of time. 

On the contrary, if you happen to be afflicted with this disorder, the Internal Medicine Service Line​ at The Aga Khan University Hospital will implement appropriate treatment. The mainstay of management for this disorder is will include the artificial introduction of hormones in the body as advised by your doctor. 

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