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Familial isolated primary hyperparathyroidism
1University Department of Endocrinology and Metabolism, Aarhus Amtssygehus, Denmark.
Clinical Endocrinology
|October 1, 1994
Summary
Familial primary hyperparathyroidism (PHPT) can be an isolated condition, not always linked to multiple endocrine neoplasia (MEN) syndromes. Genetic analysis confirmed a link to chromosome 11q13, suggesting a specific gene mutation.
Area of Science:
- Endocrinology
- Human Genetics
- Molecular Biology
Background:
- Familial primary hyperparathyroidism (PHPT) is often associated with multiple endocrine neoplasia (MEN) syndromes.
- Limited data exist on families with isolated PHPT, lacking long-term follow-up and genetic studies.
Purpose of the Study:
- To investigate a large family with familial PHPT for biochemical and genetic markers of MEN syndromes.
- To determine if PHPT can present as an isolated familial condition.
Main Methods:
- Conducted a family screening study involving 37 members, including 7 previously operated for PHPT.
- Measured serum calcium and assessed biochemical markers for MEN syndromes in affected individuals.
- Performed genetic linkage analysis using DNA markers on chromosome 11q13, the suspected MEN type 1 (MEN-1) locus.
Main Results:
- Identified four new PHPT cases and two probable cases within the family.
- No clinical or biochemical evidence of MEN syndromes was found in any participant.
- Confirmed linkage to chromosome 11q13 using DNA marker pMS51(D11S97), with a maximum lod score of 2.12.
Conclusions:
- Familial PHPT can manifest as a distinct clinical entity, separate from MEN syndromes.
- Isolated familial PHPT is likely caused by a mutation in a gene within the MEN-1 region on chromosome 11q13.