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Familial growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism
H F Stirling1, D G Barr, C J Kelnar
1Department of Child Life and Health, University of Edinburgh.
Archives of Disease in Childhood
|April 1, 1991
Insights
This study reports the first case of growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism. A boy with this condition showed improved growth after hormone treatment.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Pseudopseudohypoparathyroidism (PHP) is a genetic disorder characterized by resistance to parathyroid hormone.
- Growth hormone (GH) deficiency can lead to short stature in children.
Observation:
- A mother with PHP and her son presented with short stature and poor spontaneous growth hormone secretion.
- Provocation tests indicated a deficiency in growth hormone releasing factor (GHRF).
Findings:
- This is the first documented instance of GHRF deficiency associated with PHP.
- The affected boy demonstrated a positive response to growth hormone (GH) therapy over three years.
Implications:
- This finding suggests a potential link between GHRF deficiency and PHP.
- Early diagnosis and GH treatment may improve growth outcomes in affected children.
Abstract:
A mother with pseudopseudohypoparathyroidism and her short son showed poor spontaneous growth hormone secretion, and provocation tests suggested a deficiency of growth hormone releasing factor. This is the first report of growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism. The boy has responded well to growth hormone treatment over a period of three years.