What are the other Names for this Condition? (Also known as/Synonyms)

• Biodefective Growth Hormone Syndrome
• Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin

What is Kowarski Syndrome? (Definition/Background Information)

• Kowarski Syndrome, or short stature due to growth hormone qualitative anomaly, is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy
• Prevalence is unknown, but only a few cases have been reported in the literature
• Kowarski Syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive

(Source: Short stature due to growth hormone qualitative anomaly; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Kowarski Syndrome? (Age and Sex Distribution)

• Kowarski Syndrome is an extremely rare congenital disorder. The presentation of symptoms may occur following the birth of the child
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Kowarski Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Kowarski Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Kowarski Syndrome? (Etiology)

• Transmission of the condition is autosomal recessive

(Source: Short stature due to growth hormone qualitative anomaly; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Kowarski Syndrome?

The signs and symptoms of Kowarski Syndrome may include:

• Abnormality of metabolism/homeostasis
• Delayed skeletal maturation
• Pituitary dwarfism

(Source: Kowarski Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Kowarski Syndrome Diagnosed?

Kowarski Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Kowarski Syndrome?

The complications of Kowarski Syndrome may include:

• Emotional stress due to short stature
• Decreased quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Kowarski Syndrome Treated?

There is no cure for Kowarski Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Kowarski Syndrome be Prevented?

Currently, Kowarski Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Kowarski Syndrome? (Outcomes/Resolutions)

• The prognosis of Kowarski Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Kowarski Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/