Kowarski syndrome

Autosomal recessive - en

Kowarski syndrome is a rare genetic disorder characterized by an abnormality in growth hormone production, leading to short stature and other developmental issues. It is named after the French endocrinologist André Kowarski, who first described the condition.

Pathophysiology

Kowarski syndrome is primarily caused by mutations in the growth hormone receptor (GHR) gene, which impairs the body's ability to respond to growth hormone. This results in a condition known as growth hormone insensitivity. Unlike growth hormone deficiency, where the body does not produce enough growth hormone, individuals with Kowarski syndrome produce normal or elevated levels of growth hormone, but their bodies cannot use it effectively.

Clinical Features

The main clinical feature of Kowarski syndrome is short stature, which is usually noticeable from early childhood. Other symptoms may include:

• Delayed bone age
• Delayed puberty
• Normal or elevated levels of growth hormone in the blood
• Reduced levels of insulin-like growth factor 1 (IGF-1)

Diagnosis

Diagnosis of Kowarski syndrome involves a combination of clinical evaluation, laboratory tests, and genetic testing. Key diagnostic steps include:

• Measurement of growth hormone levels
• IGF-1 levels assessment
• Genetic testing to identify mutations in the GHR gene

Treatment

There is no cure for Kowarski syndrome, but treatment focuses on managing symptoms and promoting growth. Treatment options may include:

• Recombinant human IGF-1 therapy to stimulate growth
• Hormone replacement therapy for delayed puberty
• Regular monitoring of growth and development

Prognosis

The prognosis for individuals with Kowarski syndrome varies. With appropriate treatment, many individuals can achieve near-normal adult height and lead healthy lives. However, untreated cases may result in significantly shorter stature and other complications.

See Also

• Growth hormone deficiency
• Laron syndrome
• Turner syndrome
• Noonan syndrome