Kowarski syndrome
Kowarski Syndrome
Kowarski Syndrome (pronounced ko-war-ski syn-drome) is a rare medical condition characterized by dwarfism, hypogonadism, and insensitivity to growth hormone.
Etymology
The syndrome is named after Dr. Andrzej Kowarski, a Polish endocrinologist who first described the condition in the late 20th century.
Definition
Kowarski Syndrome is a form of dwarfism that is caused by the body's inability to properly respond to growth hormone. This results in short stature and delayed or absent puberty. The syndrome is also associated with hypogonadism, a condition in which the body produces little or no sex hormones.
Symptoms
The primary symptom of Kowarski Syndrome is short stature. Other symptoms may include delayed or absent puberty, decreased muscle mass, and increased body fat. Some individuals with the syndrome may also have a small penis (in males) or underdeveloped breasts (in females).
Diagnosis
Diagnosis of Kowarski Syndrome is based on physical examination, medical history, and laboratory tests. These tests may include blood tests to measure hormone levels and genetic testing to identify mutations in the growth hormone receptor gene.
Treatment
Treatment for Kowarski Syndrome typically involves hormone replacement therapy to stimulate growth and development. This may include the administration of growth hormone and sex hormones.
Related Terms
- Dwarfism
- Hypogonadism
- Growth hormone
- Growth hormone insensitivity syndrome
- Hormone replacement therapy
External links
- Medical encyclopedia article on Kowarski syndrome
- Wikipedia's article - Kowarski syndrome
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