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[Laron type dwarfism. Study of GH binding protein in 3 cases]
A Aguirre1, M Donnadieu, J C Job
1Service d'Endocrinologie Pédiatrique, Hôpital Saint-Vincent-de-Paul, Paris.
Archives Francaises De Pediatrie
|January 1, 1991
Summary
Laron's type dwarfism (LTD) involves high growth hormone (GH) but no response to treatment. New cases show LTD can stem from GH receptor defects or post-receptor issues, indicating at least two genetic causes.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Laron's type dwarfism (LTD) presents clinically similar to congenital isolated growth hormone (GH) deficiency.
- Patients with LTD exhibit high plasma GH levels and do not respond to exogenous GH treatment.
Observation:
- Three new cases of LTD were studied.
- Two patients lacked GH-binding protein (GHBP), with subnormal levels in heterozygous parents, suggesting GH receptor defects.
- One patient and parents had normal GHBP, indicating post-receptor or intracellular GH receptor defects.
Findings:
- GHBP levels correlate with potential genetic defects in LTD.
- Defects in the GH receptor's extracellular part are linked to LTD in some cases.
- Post-receptor or intracellular GH receptor defects also cause LTD, demonstrating genetic heterogeneity.
Implications:
- Identifies at least two distinct genetic defects underlying Laron's type dwarfism.
- Highlights the role of GHBP in diagnosing specific LTD genetic causes.
- Provides a foundation for targeted therapeutic strategies for different LTD subtypes.