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Endocrine Abstracts (2015) 37 EP282 | DOI: 10.1530/endoabs.37.EP282

Endocrinology U.O., University of Pisa, Pisa, Italy.


Primary hyperparathyroidism (PHPT) is a common disorder in adults but is uncommon in young people and features of juvenile PHPT (J-PHPT) are debated in literature. The aim of the study was to evaluate the characteristics of PHPT in juvenile sporadic (S) and familial (F) patients. It’s a monocentric prospective study at a referral centre in 154 patients with ≤40 years. Patients were evaluated at diagnosis and at the last follow-up visit (median follow-up 2 years), comparing clinical presentation, biochemical, densitometric, histological parameters, percentage of cure after parathyroidectomy (PTx) between S and F. One hundred-twelve patients had SJ-PHPT, 31 patients had multiple endocrine neoplasia type 1 (MEN1) syndrome and 11 familiar isolated hyperparathyroidism (FIHP). Symptomatic nephrolithiasis was observed in 44% of SJ-PHPT and in 48.4% of FJ-PHPT and aspecific neuropsychic symptoms in 95% of all patients. Ninety SJ-PHPT and 27 FJ-PHPT underwent PTx. The histology showed in SJ-PHPT and FJ-PHPT respectively: a single adenoma in 86 and seven patients, hyperplasia in two and 19 patients, carcinoma in one SJ-PHPT and exploration without excision of parathyroid tissue was observed in one S-JPHPT and one F-JPHPT. Ionized serum calcium and PTH significantly decreased after PTx in both group. The persistence/recurrence rate of disease was 15% in sporadic cases and 52% in familial cases. There were not statistically significant (P<0.001) differences in biochemical and densitometric markers between sporadic and familial group. In both groups males showed a more statistically significant (P<0.001) severe PHPT for both biochemical and densitometric markers. When the overall patients were stratified for age ≤25 and >25 years, younger patients appeared to have a significantly (P<0.001) more severe disease.

In conclusion, J-PHPT is generally sintomatic and more severe in males; it has a higher rate of persistence/recurrence disease, even in sporadic patients; S and F patients show similar features.

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