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[Pseudohypothyroidism. Complementary results apropos of 4 familial cases]
Archives Francaises De Pediatrie
|May 1, 1976
Insights
Four of five siblings had pseudo-hypoparathyroidism, characterized by low calcium and high parathyroid hormone (PTH) levels. Despite normal bone X-rays, histological analysis revealed bone lesions, indicating a complex presentation of this endocrine disorder.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Context:
- A familial study investigating pseudo-hypoparathyroidism (PHP) within a sibship.
- Observed a high prevalence of PHP in 4 out of 5 siblings.
Purpose:
- To characterize the clinical and biochemical presentation of pseudo-hypoparathyroidism in a multi-affected family.
- To investigate the discrepancy between radiological and histological findings in bone tissue.
Summary:
- The affected siblings presented with hypocalcaemia and elevated serum parathyroid hormone (PTH) levels.
- Bone and gut tissues showed a normal response to endogenous PTH, suggesting Albright's hereditary osteodystrophy (AHO) features.
- Radiological examination of bone revealed normal findings, contrasting with histological evidence of bone lesions.
Impact:
- Highlights the variable phenotypic expression of pseudo-hypoparathyroidism.
- Underscores the importance of histological examination for diagnosing bone abnormalities in PHP.
- Contributes to understanding the pathophysiology of PTH resistance in affected individuals.
Abstract:
In a sibship, 4 out of 5 children featured pseudo-hypoparathyroidism. The following points were verified: hypocalcaemia; increase of the serum level of PTH; normal response of bone and gut effectors to endegenous PTH; contrast between normal bone X-rays and lesions detected by histological studies.