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18p- syndrome and hypopituitarism.
H G Artman1, C A Morris, A D Stock
1Department of Pediatrics, University of Nevada School of Medicine, Reno 89557.
Journal of Medical Genetics
|September 1, 1992
Summary
Growth hormone therapy benefits a patient with 18p- syndrome and hypopituitarism. This finding suggests evaluating growth deficiency in such patients for potential treatment to improve stature and quality of life.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- 18p- syndrome is a rare chromosomal disorder associated with various developmental issues.
- Hypopituitarism, a condition of deficient pituitary hormone production, can occur in individuals with 18p- syndrome.
- Growth deficiency is a common concern in children with genetic syndromes.
Observation:
- A case study describes a patient diagnosed with both 18p- syndrome and hypopituitarism.
- The patient presented with significant growth deficiency.
Findings:
- This represents the first documented case of a patient with 18p- syndrome benefiting from growth hormone (GH) therapy.
- The patient showed a positive response to GH treatment, indicating potential efficacy.
Implications:
- Individuals with 18p- syndrome and growth deficiency should be evaluated for hypopituitarism.
- Growth hormone therapy may be a viable treatment option to improve stature and quality of life in select patients.
- This case highlights the importance of individualized treatment approaches for rare genetic syndromes.