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Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management.
Clin Endocrinol (Oxf). 2006 Feb; 64(2):146-52.CE

Abstract

OBJECTIVE

Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia type 1 (MEN 1), hyperparathyroidism-jaw tumour syndrome (HPT-JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes. Design Genetic analyses of MEN1, HRPT2 and CASR genes in FIHP.

PATIENTS

Seven well-characterized Italian kindreds with FIHP, with negative clinical features for MEN 1, HPT-JT and FHH. The mean age (+/- SD) at diagnosis was 45 +/- 17 years (range 18-70 years) in the probands and 42 +/- 18 years (range 15-69 years) in the other affected subjects.

MEASUREMENTS

Direct sequencing of germline DNA of the MEN1, HRPT2 and CASR genes from probands. The region of interest was amplified in some family members.

RESULTS

Germline MEN1 mutations were detected in three kindreds. Multiglandular involvement was found in all but one affected subject belonging to the three kindreds with MEN1 mutations. In these patients persistence/relapse of the disease was observed unless an extensive parathyroidectomy (excision of 3(1)/(2) glands) had been performed, with the exception of one patient, who is currently normocalcaemic 168 months after excision of two glands. No mutations of MEN1, HRPT2 and CASR genes were identified in the remaining four families.

CONCLUSIONS

MEN1 genotyping appears worthwhile in FIHP families, as the finding of mutation(s) may predict multiglandular involvement and therefore have practical surgical implications, and prompt further investigation in the family, with the possibility of identifying new cases and beginning a programme of periodic surveillance for emergence of tumours in all carriers.

Authors+Show Affiliations

Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy. cetani@endoc.med.unipi.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16430712

Citation

Cetani, Filomena, et al. "Genetic Analyses in Familial Isolated Hyperparathyroidism: Implication for Clinical Assessment and Surgical Management." Clinical Endocrinology, vol. 64, no. 2, 2006, pp. 146-52.
Cetani F, Pardi E, Ambrogini E, et al. Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management. Clin Endocrinol (Oxf). 2006;64(2):146-52.
Cetani, F., Pardi, E., Ambrogini, E., Lemmi, M., Borsari, S., Cianferotti, L., Vignali, E., Viacava, P., Berti, P., Mariotti, S., Pinchera, A., & Marcocci, C. (2006). Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management. Clinical Endocrinology, 64(2), 146-52.
Cetani F, et al. Genetic Analyses in Familial Isolated Hyperparathyroidism: Implication for Clinical Assessment and Surgical Management. Clin Endocrinol (Oxf). 2006;64(2):146-52. PubMed PMID: 16430712.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management. AU - Cetani,Filomena, AU - Pardi,Elena, AU - Ambrogini,Elena, AU - Lemmi,Monica, AU - Borsari,Simona, AU - Cianferotti,Luisella, AU - Vignali,Edda, AU - Viacava,Paolo, AU - Berti,Piero, AU - Mariotti,Stefano, AU - Pinchera,Aldo, AU - Marcocci,Claudio, PY - 2006/1/25/pubmed PY - 2006/6/6/medline PY - 2006/1/25/entrez SP - 146 EP - 52 JF - Clinical endocrinology JO - Clin Endocrinol (Oxf) VL - 64 IS - 2 N2 - OBJECTIVE: Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia type 1 (MEN 1), hyperparathyroidism-jaw tumour syndrome (HPT-JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes. Design Genetic analyses of MEN1, HRPT2 and CASR genes in FIHP. PATIENTS: Seven well-characterized Italian kindreds with FIHP, with negative clinical features for MEN 1, HPT-JT and FHH. The mean age (+/- SD) at diagnosis was 45 +/- 17 years (range 18-70 years) in the probands and 42 +/- 18 years (range 15-69 years) in the other affected subjects. MEASUREMENTS: Direct sequencing of germline DNA of the MEN1, HRPT2 and CASR genes from probands. The region of interest was amplified in some family members. RESULTS: Germline MEN1 mutations were detected in three kindreds. Multiglandular involvement was found in all but one affected subject belonging to the three kindreds with MEN1 mutations. In these patients persistence/relapse of the disease was observed unless an extensive parathyroidectomy (excision of 3(1)/(2) glands) had been performed, with the exception of one patient, who is currently normocalcaemic 168 months after excision of two glands. No mutations of MEN1, HRPT2 and CASR genes were identified in the remaining four families. CONCLUSIONS: MEN1 genotyping appears worthwhile in FIHP families, as the finding of mutation(s) may predict multiglandular involvement and therefore have practical surgical implications, and prompt further investigation in the family, with the possibility of identifying new cases and beginning a programme of periodic surveillance for emergence of tumours in all carriers. SN - 0300-0664 UR - https://www.unboundmedicine.com/medline/citation/16430712/Genetic_analyses_in_familial_isolated_hyperparathyroidism:_implication_for_clinical_assessment_and_surgical_management_ L2 - https://doi.org/10.1111/j.1365-2265.2006.02438.x DB - PRIME DP - Unbound Medicine ER -